Leber congenital amaurosis

Summary

Leber congenital amaurosis (MONDO:0018998) is a disease (an umbrella term covering 21 Mondo subtypes) caused by variants in PRPH2, CCT2, and LRAT, with 67 cohort genes and 22 clinical trials. The dominant Reactome pathway is Inactivation, recovery and regulation of the phototransduction cascade (6 cohort genes). Top therapeutic interventions include voretigene neparvovec, polymyxin b, and trimethoprim.

At a glance

• Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
• Causal genes: PRPH2 (GenCC Definitive), CCT2 (GenCC Strong), LRAT (GenCC Strong)
• Umbrella term: 21 Mondo subtypes
• Cohort genes: 67
• ClinVar variants: 1,788
• Phenotypes (HPO): 25
• Clinical trials: 22

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	2.5	Worldwide	Validated
Point prevalence	1-9 / 100 000		Europe	Validated
Point prevalence	1-9 / 100 000	1.23	United States	Validated
Prevalence at birth	1-9 / 100 000	2.5	Worldwide	Not yet validated

Signs & symptoms

Clinical features (HPO)

25 HPO clinical features (Orphanet curated; top 25 by frequency):

HPO ID	Term	Frequency
HP:0001141	Severely reduced visual acuity	Very frequent (80-99%)
HP:0007703	Abnormality of retinal pigmentation	Very frequent (80-99%)
HP:0012795	Abnormality of the optic disc	Very frequent (80-99%)
HP:0000512	Abnormal electroretinogram	Frequent (30-79%)
HP:0000518	Cataract	Frequent (30-79%)
HP:0000540	Hypermetropia	Frequent (30-79%)
HP:0000563	Keratoconus	Frequent (30-79%)
HP:0000613	Photophobia	Frequent (30-79%)
HP:0000639	Nystagmus	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001483	Eye poking	Frequent (30-79%)
HP:0002084	Encephalocele	Frequent (30-79%)
HP:0002269	Abnormality of neuronal migration	Frequent (30-79%)
HP:0004374	Hemiplegia/hemiparesis	Frequent (30-79%)
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	Frequent (30-79%)
HP:0030211	Slow pupillary light response	Frequent (30-79%)
HP:0030466	Abnormal full-field electroretinogram	Frequent (30-79%)
HP:0000365	Hearing impairment	Occasional (5-29%)
HP:0000543	Optic disc pallor	Occasional (5-29%)
HP:0000729	Autistic behavior	Occasional (5-29%)
HP:0001249	Intellectual disability	Occasional (5-29%)
HP:0001263	Global developmental delay	Occasional (5-29%)
HP:0001270	Motor delay	Occasional (5-29%)
HP:0012426	Optic disc drusen	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Leber congenital amaurosis
Mondo ID	MONDO:0018998
MeSH	D057130
OMIM	204000
Orphanet	65
DOID	DOID:14791
ICD-11	650490256
NCIT	C129075
SNOMED CT	193413001
UMLS	C0339527
MedGen	137922
GARD	0000634
MedDRA	10070667
NORD	1351
Is cancer (heuristic)	no

Also known as: amaurosis congenita of Leber · congenital absence of the rods and cones · congenital retinal blindness · Leber congenital amaurosis · Leber’s congenital tapetoretinal degeneration · Leber’s congenital tapetoretinal dysplasia

Data availability: 1,788 ClinVar variants · 27 GenCC gene-disease records · 22 cell lines.

Disease family

An umbrella term covering 21 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › Leber congenital amaurosis

Related subtypes (216): polymicrogyria, congenital myasthenic syndrome with tubular aggregates, prenatal-onset spinal muscular atrophy with congenital bone fractures, anencephaly, cerebral cavernous malformation, meningocele, progressive external ophthalmoplegia, congenital nystagmus, congenital toxoplasmosis, congenital contractural arachnodactyly, congenital trigeminal anesthesia, familial congenital palsy of trochlear nerve, Myhre syndrome, Aase-Smith syndrome, KBG syndrome, autosomal dominant primary microcephaly, Mobius syndrome, MYH7-related skeletal myopathy, congenital stationary night blindness autosomal dominant 2, Prader-Willi syndrome, congenital myopathy 7A, myosin storage, autosomal dominant, Smith-Magenis syndrome, spina bifida, Freeman-Sheldon syndrome, isolated cerebellar hypoplasia/agenesis, Chediak-Higashi syndrome, Cohen syndrome, multiple pterygium-malignant hyperthermia syndrome, corpus callosum, agenesis of, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, diastematomyelia, EEM syndrome, Mowat-Wilson syndrome, Johanson-Blizzard syndrome, intellectual disability, Buenos-Aires type, myasthenia, congenital, refractory to acetylcholinesterase inhibitors, congenital myasthenic syndrome 6, Bailey-Bloch congenital myopathy, congenital stationary night blindness 1B, radioulnar synostosis-developmental delay-hypotonia syndrome, Schinzel-Giedion syndrome, schizencephaly, intellectual disability, Wolff type, X-linked intellectual disability-plagiocephaly syndrome, X-linked adrenal hypoplasia congenita, syndromic X-linked intellectual disability 7, syndromic X-linked intellectual disability Shashi type, syndromic X-linked intellectual disability Lubs type, syndromic X-linked intellectual disability Abidi type, syndromic X-linked intellectual disability Siderius type, X-linked intellectual disability, Cabezas type, X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, syndromic X-linked intellectual disability Claes-Jensen type, moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 2, developmental and epileptic encephalopathy, 36, blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability-short stature-overweight syndrome, intellectual disability, X-linked, syndromic 33, syndromic X-linked intellectual disability 34, infantile-onset X-linked spinal muscular atrophy, syndromic X-linked intellectual disability 5, holoprosencephaly-hypokinesia-congenital contractures syndrome, X-linked intellectual disability with marfanoid habitus, Wieacker-Wolff syndrome, MERRF syndrome, macrocephaly-spastic paraplegia-dysmorphism syndrome, intellectual disability-sparse hair-brachydactyly syndrome, myofibrillar myopathy 1, isolated hereditary congenital facial paralysis, fibrosis of extraocular muscles, congenital, 2, Pierpont syndrome, congenital cataracts-facial dysmorphism-neuropathy syndrome, Bohring-Opitz syndrome, PHACE syndrome, B4GALT1-congenital disorder of glycosylation, developmental malformations-deafness-dystonia syndrome, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, AICA-ribosiduria, myofibrillar myopathy 3, fibrosis of extraocular muscles, congenital, 3c, myofibrillar myopathy 4, myofibrillar myopathy 5, cone-rod synaptic disorder, congenital nonprogressive, congenital stationary night blindness autosomal dominant 3, congenital stationary night blindness autosomal dominant 1, intellectual disability, autosomal recessive 12, progressive myoclonic epilepsy type 3, chromosome 15q13.3 microdeletion syndrome, combined pituitary hormone deficiencies, genetic form, congenital stationary night blindness 1D, DYRK1A-related intellectual disability syndrome, Pitt-Hopkins-like syndrome 2, developmental and epileptic encephalopathy, 15, Schuurs-Hoeijmakers syndrome, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, severe intellectual disability-progressive spastic diplegia syndrome, hypotonia, infantile, with psychomotor retardation and characteristic facies, developmental and epileptic encephalopathy, 18, CTCF-related neurodevelopmental disorder, autism spectrum disorder due to AUTS2 deficiency, developmental and epileptic encephalopathy, 23, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Bardet-Biedl syndrome 11, cerebellar-facial-dental syndrome, fibrosis of extraocular muscles, congenital, 5, congenital myasthenic syndrome 15, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, congenital myasthenic syndrome 18, autosomal recessive spinocerebellar ataxia 20, Houge-Janssens syndrome 1, intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, congenital stationary night blindness 1G, hypomyelinating leukodystrophy 10, developmental and epileptic encephalopathy, 50, congenital insensitivity to pain-hypohidrosis syndrome, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, SLC39A8-CDG, spastic paraplegia-severe developmental delay-epilepsy syndrome, cardiac anomalies - developmental delay - facial dysmorphism syndrome, severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, intellectual disability, autosomal recessive 53, TELO2-related intellectual disability-neurodevelopmental disorder, micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, autosomal recessive limb-girdle muscular dystrophy type 2Y, myofibrillar myopathy 7, short stature-brachydactyly-obesity-global developmental delay syndrome, autosomal recessive limb-girdle muscular dystrophy type 2R1, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, congenital laryngeal palsy, congenital or early infantile CACH syndrome, congenital epulis, severe congenital nemaline myopathy, intermediate nemaline myopathy, typical nemaline myopathy, childhood-onset nemaline myopathy, adult-onset nemaline myopathy, qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan, holoprosencephaly, congenital insensitivity to pain with hyperhidrosis, congenital hydrocephalus, familial congenital mirror movements, macrocephaly-short stature-paraplegia syndrome, cephalocele, mitochondrial neurogastrointestinal encephalomyopathy, X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome, 7p22.1 microduplication syndrome, congenital achiasma, congenital retinal arteriovenous communication, 3q27.3 microdeletion syndrome, Prader-Willi-like syndrome, 9q31.1q31.3 microdeletion syndrome, congenital oculomotor nerve palsy, congenital abducens nerve palsy, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, congenital insensitivity to pain with severe intellectual disability, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, lissencephaly spectrum disorders, hyaline body myopathy, 22q11.2 deletion syndrome, craniorachischisis, Ritscher-Schinzel syndrome, Rubinstein-Taybi syndrome, X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, X-linked intellectual disability, Pai type, X-linked intellectual disability, Stevenson type, X-linked intellectual disability, Stoll type, congenital muscular dystrophy, congenital vitreoretinal dysplasia, periventricular nodular heterotopia, postsynaptic congenital myasthenic syndrome, subcortical band heterotopia, congenital fibrosis of extraocular muscles type 1, Al Gazali Khidr Prem Chandran syndrome, distal arthrogryposis Moore weaver type, congenital myotonic dystrophy, myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, intellectual disability, autosomal dominant 47, intellectual disability, autosomal dominant 48, spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, myasthenic syndrome, congenital, 23, presynaptic, myasthenic syndrome, congenital, 24, presynaptic, myasthenic syndrome, congenital, 25, presynaptic, developmental and epileptic encephalopathy, 77, night blindness, congenital stationary, type1i, neuropathy, congenital hypomelinating, congenital axonal neuropathy with encephalopathy, developmental and epileptic encephalopathy, 73, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, isolated exencephaly, myasthenic syndrome, congenital, 22, intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 9q33.3q34.11 microdeletion syndrome, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, SIN3A-related intellectual disability syndrome, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, X-linked congenital stationary night blindness, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, FOXG1 disorder, alpha-actinopathy, TPM3-related myopathy, X-linked recessive mitochondrial myopathy, RYR1-related myopathy, TTN-related myopathy, TPM2-related myopathy, myopathy caused by variation in POMGNT1, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, segmental spinal dysgenesis, myopathy, myofibrillar, 13, with rimmed vacuoles, congenital neuronal ceroid lipofuscinosis 10

Subtypes (21): retinal aplasia, Leber congenital amaurosis 1, Leber congenital amaurosis 2, Leber congenital amaurosis 3, Leber congenital amaurosis 4, Leber congenital amaurosis 5, Leber congenital amaurosis 9, Leber congenital amaurosis 12, Leber congenital amaurosis 10, Leber congenital amaurosis 13, Leber congenital amaurosis 14, Leber congenital amaurosis 6, Leber congenital amaurosis 7, Leber congenital amaurosis 8, Leber congenital amaurosis 11, Leber congenital amaurosis 15, Leber congenital amaurosis 16, Leber congenital amaurosis 17, Leber congenital amaurosis 19, Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis 18

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

146 uncertain significance, 137 pathogenic/likely pathogenic, 98 pathogenic, 76 conflicting classifications of pathogenicity, 64 likely pathogenic, 61 likely benign, 12 benign, 6 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
156382	NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	AHI1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2736405	NM_014336.5(AIPL1):c.809G>A (p.Arg270His)	AIPL1	Pathogenic	reviewed by expert panel
1213956	NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)	ALMS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1213958	NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs)	ALMS1	Pathogenic	criteria provided, single submitter
1213959	NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)	ALMS1	Pathogenic	criteria provided, single submitter
18416	NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	CDHR1	Pathogenic	criteria provided, multiple submitters, no conflicts
1032903	NM_025114.4(CEP290):c.2632del (p.Ile878fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069579	NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069582	NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)	CEP290	Pathogenic	criteria provided, multiple submitters, no conflicts
1069639	NM_025114.4(CEP290):c.1668del (p.Arg557fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070079	NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070250	NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071036	NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071060	NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071248	NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071318	NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071910	NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071911	NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072859	NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)	CEP290	Pathogenic	criteria provided, multiple submitters, no conflicts
1073010	NM_025114.4(CEP290):c.955del (p.Ser319fs)	CEP290	Pathogenic	criteria provided, multiple submitters, no conflicts
1073163	NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1074481	NM_025114.4(CEP290):c.1258dup (p.Thr420fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1074543	NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075391	NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075924	NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1098750	NM_025114.4(CEP290):c.384_385del (p.Asp128fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1185813	NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)	CEP290	Pathogenic	criteria provided, multiple submitters, no conflicts
126260	NM_025114.4(CEP290):c.4621del (p.Thr1541fs)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1333	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	CEP290	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1335	NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	CEP290	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 186 · Orphanet: 161 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
AIPL1	Definitive	Autosomal recessive	Leber congenital amaurosis 4	4
CRB1	Definitive	Autosomal recessive	Leber congenital amaurosis 8	11
CRX	Definitive	Semidominant	Leber congenital amaurosis 7	10
GUCY2D	Definitive	Autosomal recessive	Leber congenital amaurosis 1	12
IMPDH1	Definitive	Autosomal dominant	Leber congenital amaurosis 11	8
KCNJ13	Definitive	Autosomal recessive	Leber congenital amaurosis 16	8
LCA5	Definitive	Autosomal recessive	Leber congenital amaurosis 5	6
NMNAT1	Definitive	Autosomal recessive	Leber congenital amaurosis 9	6
PRPH2	Definitive	Autosomal recessive	Leber congenital amaurosis	21
RD3	Definitive	Autosomal recessive	Leber congenital amaurosis 12	5
RDH12	Definitive	Autosomal recessive	Leber congenital amaurosis 13	7
RPE65	Definitive	Autosomal recessive	Leber congenital amaurosis 2	13
RPGRIP1	Definitive	Autosomal recessive	Leber congenital amaurosis 6	6
SPATA7	Definitive	Autosomal recessive	Leber congenital amaurosis 3	7
CCT2	Strong	Autosomal recessive	Leber congenital amaurosis	2
CEP290	Strong	Autosomal recessive	Leber congenital amaurosis 10	10
LRAT	Strong	Autosomal recessive	Leber congenital amaurosis 14	7
TULP1	Strong	Autosomal recessive	Leber congenital amaurosis 15	7
USP45	Strong	Autosomal recessive	Leber congenital amaurosis 19	4
GDF6	Supportive	Autosomal dominant	Leber congenital amaurosis	8
IFT140	Supportive	Autosomal dominant	Leber congenital amaurosis	11
IQCB1	Supportive	Autosomal dominant	Leber congenital amaurosis	5
PCYT1A	Supportive	Autosomal dominant	Leber congenital amaurosis	6
IFT38	Limited	Autosomal recessive	Leber congenital amaurosis
NXNL1	Limited	Unknown	Leber congenital amaurosis

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RPE65	Orphanet:364055	Severe early-childhood-onset retinal dystrophy
RPE65	Orphanet:65	Leber congenital amaurosis
RPE65	Orphanet:791	Retinitis pigmentosa
TULP1	Orphanet:65	Leber congenital amaurosis
TULP1	Orphanet:791	Retinitis pigmentosa
RPGRIP1	Orphanet:1872	Cone rod dystrophy
RPGRIP1	Orphanet:564	Meckel syndrome
RPGRIP1	Orphanet:65	Leber congenital amaurosis
NMNAT1	Orphanet:1872	Cone rod dystrophy
NMNAT1	Orphanet:65	Leber congenital amaurosis
RD3	Orphanet:65	Leber congenital amaurosis
RDH12	Orphanet:65	Leber congenital amaurosis
RDH12	Orphanet:791	Retinitis pigmentosa
USP45	Orphanet:65	Leber congenital amaurosis
SPATA7	Orphanet:364055	Severe early-childhood-onset retinal dystrophy
SPATA7	Orphanet:65	Leber congenital amaurosis
SPATA7	Orphanet:791	Retinitis pigmentosa
CRB1	Orphanet:251295	Pigmented paravenous retinochoroidal atrophy
CRB1	Orphanet:35612	Nanophthalmos
CRB1	Orphanet:65	Leber congenital amaurosis
CRB1	Orphanet:791	Retinitis pigmentosa
CRX	Orphanet:1872	Cone rod dystrophy
CRX	Orphanet:65	Leber congenital amaurosis
CRX	Orphanet:791	Retinitis pigmentosa
IQCB1	Orphanet:3156	Senior-Loken syndrome
IQCB1	Orphanet:65	Leber congenital amaurosis
CEP290	Orphanet:110	Bardet-Biedl syndrome
CEP290	Orphanet:2318	Joubert syndrome with oculorenal defect
CEP290	Orphanet:3156	Senior-Loken syndrome
CEP290	Orphanet:564	Meckel syndrome
CEP290	Orphanet:65	Leber congenital amaurosis
IFT140	Orphanet:140969	Saldino-Mainzer syndrome
IFT140	Orphanet:474	Jeune syndrome
IFT140	Orphanet:65	Leber congenital amaurosis
IFT140	Orphanet:730	Autosomal dominant polycystic kidney disease
IFT140	Orphanet:791	Retinitis pigmentosa
LCA5	Orphanet:364055	Severe early-childhood-onset retinal dystrophy
LCA5	Orphanet:65	Leber congenital amaurosis
AIPL1	Orphanet:1872	Cone rod dystrophy
AIPL1	Orphanet:65	Leber congenital amaurosis
GUCY2D	Orphanet:1872	Cone rod dystrophy
GUCY2D	Orphanet:65	Leber congenital amaurosis
GUCY2D	Orphanet:75377	Central areolar choroidal dystrophy
IMPDH1	Orphanet:65	Leber congenital amaurosis
IMPDH1	Orphanet:791	Retinitis pigmentosa
LRAT	Orphanet:364055	Severe early-childhood-onset retinal dystrophy
LRAT	Orphanet:65	Leber congenital amaurosis
LRAT	Orphanet:791	Retinitis pigmentosa
GDF6	Orphanet:2345	Isolated Klippel-Feil syndrome
GDF6	Orphanet:3237	Multiple synostoses syndrome

Cohort genes → proteins

67 cohort genes, 66 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	67

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RPE65	HGNC:10294	ENSG00000116745	Q16518	Retinoid isomerohydrolase	gencc,clinvar
TULP1	HGNC:12423	ENSG00000112041	O00294	Tubby-related protein 1	gencc,clinvar
RPGRIP1	HGNC:13436	ENSG00000092200	Q96KN7	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	gencc,clinvar
CCT2	HGNC:1615	ENSG00000166226	P78371	T-complex protein 1 subunit beta	gencc,clinvar
NMNAT1	HGNC:17877	ENSG00000173614	Q9HAN9	Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1	gencc,clinvar
IFT38	HGNC:19009	ENSG00000103351	Q96AJ1	Clusterin-associated protein 1	gencc,clinvar
RD3	HGNC:19689	ENSG00000198570	Q7Z3Z2	Protein RD3	gencc,clinvar
RDH12	HGNC:19977	ENSG00000139988	Q96NR8	Retinol dehydrogenase 12	gencc,clinvar
USP45	HGNC:20080	ENSG00000123552	Q70EL2	Ubiquitin carboxyl-terminal hydrolase 45	gencc,clinvar
SPATA7	HGNC:20423	ENSG00000042317	Q9P0W8	Spermatogenesis-associated protein 7	gencc,clinvar
CRB1	HGNC:2343	ENSG00000134376	P82279	Protein crumbs homolog 1	gencc,clinvar
CRX	HGNC:2383	ENSG00000105392	O43186	Cone-rod homeobox protein	gencc,clinvar
IQCB1	HGNC:28949	ENSG00000173226	Q15051	IQ calmodulin-binding motif-containing protein 1	gencc,clinvar
CEP290	HGNC:29021	ENSG00000198707	O15078	Centrosomal protein of 290 kDa	gencc,clinvar
IFT140	HGNC:29077	ENSG00000187535	Q96RY7	Intraflagellar transport protein 140 homolog	gencc,clinvar
LCA5	HGNC:31923	ENSG00000135338	Q86VQ0	Lebercilin	gencc,clinvar
AIPL1	HGNC:359	ENSG00000129221	Q9NZN9	Aryl-hydrocarbon-interacting protein-like 1	gencc,clinvar
GUCY2D	HGNC:4689	ENSG00000132518	Q02846	Retinal guanylyl cyclase 1	gencc,clinvar
IMPDH1	HGNC:6052	ENSG00000106348	P20839	Inosine-5’-monophosphate dehydrogenase 1	gencc,clinvar
LRAT	HGNC:6685	ENSG00000121207	O95237	Lecithin retinol acyltransferase	gencc,clinvar
NXNL1	HGNC:25179	ENSG00000171773	Q96CM4	Nucleoredoxin-like protein 1	gencc
GDF6	HGNC:4221	ENSG00000156466	Q6KF10	Growth/differentiation factor 6	gencc
KCNJ13	HGNC:6259	ENSG00000115474	O60928	Inward rectifier potassium channel 13	gencc
PCYT1A	HGNC:8754	ENSG00000161217	P49585	Choline-phosphate cytidylyltransferase A	gencc
PRPH2	HGNC:9942	ENSG00000112619	P23942	Peripherin-2	gencc
RGS9	HGNC:10004	ENSG00000108370	O75916	Regulator of G-protein signaling 9	clinvar
RHO	HGNC:10012	ENSG00000163914	P08100	Rhodopsin	clinvar
RP2	HGNC:10274	ENSG00000102218	O75695	Protein XRP2	clinvar
RPGR	HGNC:10295	ENSG00000156313	Q92834	X-linked retinitis pigmentosa GTPase regulator	clinvar
TEAD3	HGNC:11716	ENSG00000007866	Q99594	Transcriptional enhancer factor TEF-5	clinvar
GIGYF2	HGNC:11960	ENSG00000204120	Q6Y7W6	GRB10-interacting GYF protein 2	clinvar
CFAP410	HGNC:1260	ENSG00000160226	O43822	Cilia- and flagella-associated protein 410	clinvar
USH2A	HGNC:12601	ENSG00000042781	O75445	Usherin	clinvar
CDHR1	HGNC:14550	ENSG00000148600	Q96JP9	Cadherin-related family member 1	clinvar
PRPF31	HGNC:15446	ENSG00000105618	Q8WWY3	U4/U6 small nuclear ribonucleoprotein Prp31	clinvar
GPHN	HGNC:15465	ENSG00000171723	Q9NQX3	Gephyrin	clinvar
NBAS	HGNC:15625	ENSG00000151779	A2RRP1	NBAS subunit of NRZ tethering complex	clinvar
PANK2	HGNC:15894	ENSG00000125779	Q9BZ23	Pantothenate kinase 2, mitochondrial	clinvar
ADAMTS18	HGNC:17110	ENSG00000140873	Q8TE60	A disintegrin and metalloproteinase with thrombospondin motifs 18	clinvar
RIMS1	HGNC:17282	ENSG00000079841	Q86UR5	Regulating synaptic membrane exocytosis protein 1	clinvar
WDR19	HGNC:18340	ENSG00000157796	Q8NEZ3	WD repeat-containing protein 19	clinvar
PMPCA	HGNC:18667	ENSG00000165688	Q10713	Mitochondrial-processing peptidase subunit alpha	clinvar
NPHP4	HGNC:19104	ENSG00000131697	O75161	Nephrocystin-4	clinvar
TTC8	HGNC:20087	ENSG00000165533	Q8TAM2	Tetratricopeptide repeat protein 8	clinvar
ZFYVE26	HGNC:20761	ENSG00000072121	Q68DK2	Zinc finger FYVE domain-containing protein 26	clinvar
INPP5E	HGNC:21474	ENSG00000148384	Q9NRR6	Phosphatidylinositol polyphosphate 5-phosphatase type IV	clinvar
CNGB3	HGNC:2153	ENSG00000170289	Q9NQW8	Cyclic nucleotide-gated channel beta-3	clinvar
AHI1	HGNC:21575	ENSG00000135541	Q8N157	Jouberin	clinvar
RLIG1	HGNC:25322	ENSG00000133641	Q8N999	RNA ligase 1	clinvar
RPGRIP1L	HGNC:29168	ENSG00000103494	Q68CZ1	Protein fantom	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RPE65	Retinoid isomerohydrolase	Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins.
TULP1	Tubby-related protein 1	Required for normal development of photoreceptor synapses.
RPGRIP1	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	May function as scaffolding protein.
CCT2	T-complex protein 1 subunit beta	Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis.
NMNAT1	Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1	Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP.
IFT38	Clusterin-associated protein 1	Required for cilia biogenesis.
RD3	Protein RD3	Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors.
RDH12	Retinol dehydrogenase 12	Retinoids dehydrogenase/reductase with a clear preference for NADP.
USP45	Ubiquitin carboxyl-terminal hydrolase 45	Catalyzes the deubiquitination of SPDL1.
SPATA7	Spermatogenesis-associated protein 7	Involved in the maintenance of both rod and cone photoreceptor cells.
CRB1	Protein crumbs homolog 1	Plays a role in photoreceptor morphogenesis in the retina.
CRX	Cone-rod homeobox protein	Transcription factor that binds and transactivates the sequence 5’-TAATC[CA]-3’ which is found upstream of several photoreceptor-specific genes, including the opsin genes.
IQCB1	IQ calmodulin-binding motif-containing protein 1	Involved in ciliogenesis.
CEP290	Centrosomal protein of 290 kDa	Involved in early and late steps in cilia formation.
IFT140	Intraflagellar transport protein 140 homolog	Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs).
LCA5	Lebercilin	Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.
AIPL1	Aryl-hydrocarbon-interacting protein-like 1	May be important in protein trafficking and/or protein folding and stabilization.
GUCY2D	Retinal guanylyl cyclase 1	Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors.
IMPDH1	Inosine-5’-monophosphate dehydrogenase 1	Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of…
LRAT	Lecithin retinol acyltransferase	Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters.
NXNL1	Nucleoredoxin-like protein 1	Thioredoxin-like protein that protects retinal rod and cone photoreceptors against oxidative stress and photo-oxidative damage.
GDF6	Growth/differentiation factor 6	Growth factor that controls proliferation and cellular differentiation in the retina and bone formation.
KCNJ13	Inward rectifier potassium channel 13	Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it.
PCYT1A	Choline-phosphate cytidylyltransferase A	Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.
PRPH2	Peripherin-2	Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure.
RGS9	Regulator of G-protein signaling 9	Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.
RHO	Rhodopsin	Photoreceptor required for image-forming vision at low light intensity.
RP2	Protein XRP2	Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane.
RPGR	X-linked retinitis pigmentosa GTPase regulator	Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP.
TEAD3	Transcriptional enhancer factor TEF-5	Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis.
GIGYF2	GRB10-interacting GYF protein 2	Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation.
CFAP410	Cilia- and flagella-associated protein 410	Plays a role in cilia formation and/or maintenance.
USH2A	Usherin	Involved in hearing and vision as member of the USH2 complex.
CDHR1	Cadherin-related family member 1	Potential calcium-dependent cell-adhesion protein.
PRPF31	U4/U6 small nuclear ribonucleoprotein Prp31	Involved in pre-mRNA splicing as component of the spliceosome.
GPHN	Gephyrin	Microtubule-associated protein involved in membrane protein-cytoskeleton interactions.
NBAS	NBAS subunit of NRZ tethering complex	Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER.
PANK2	Pantothenate kinase 2, mitochondrial	Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4’-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.
RIMS1	Regulating synaptic membrane exocytosis protein 1	Rab effector involved in exocytosis.
WDR19	WD repeat-containing protein 19	As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly.
PMPCA	Mitochondrial-processing peptidase subunit alpha	Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.
NPHP4	Nephrocystin-4	Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module.
TTC8	Tetratricopeptide repeat protein 8	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
ZFYVE26	Zinc finger FYVE domain-containing protein 26	Phosphatidylinositol 3-phosphate-binding protein required for the abscission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abscission.
INPP5E	Phosphatidylinositol polyphosphate 5-phosphatase type IV	Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bispho…
CNGB3	Cyclic nucleotide-gated channel beta-3	Pore-forming subunit of the cone cyclic nucleotide-gated channel.
AHI1	Jouberin	Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium.
RLIG1	RNA ligase 1	Functions as an RNA ligase, in vitro.
RPGRIP1L	Protein fantom	Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R).
SLC38A8	Solute carrier family 38 member 8	Electrogenic sodium-dependent amino acid transporter with a preference for L-glutamine, L-alanine, L-histidine, L-aspartate and L-arginine.

Protein-family classification

Druggable: 21 · Difficult: 11 · Unknown: 35 · Druggable fraction: 0.31

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	10	1.8×	0.551
Nuclear receptor	1	5.8×	0.586
Ion channel	2	3.3×	0.586
Protease	3	1.6×	0.761
Transporter	1	1.2×	0.915
Scaffold/PPI	4	1.0×	0.915
Other/Unknown	35	0.9×	0.915
Transcription factor	7	0.9×	0.915
GPCR	2	0.7×	0.915
Antibody/Immunoglobulin	1	0.4×	0.915
Kinase	1	0.4×	0.915

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RPE65	Enzyme (other)	yes	3.1.1.64	Carotenoid_Oase
TULP1	Other/Unknown	no		Tubby_C, Tubby_C_CS, Tubby-like_C
RPGRIP1	Other/Unknown	no		C2_dom, C2-C2_1, RPGRIP1_fam
CCT2	Enzyme (other)	yes	3.6.4.B10	Chaperonin_TCP-1_CS, Cpn60/GroEL/TCP-1, Chap_CCT_beta
NMNAT1	Enzyme (other)	yes	2.7.7.1	Cyt_trans-like, NadD/NMNAT, Rossmann-like_a/b/a_fold
IFT38	Other/Unknown	no		Clusterin-associated_protein-1
RD3	Other/Unknown	no		RD3
RDH12	Enzyme (other)	yes	1.1.1.105	SDR_fam, NAD(P)-bd_dom_sf
USP45	Protease	yes		Peptidase_C19_UCH, Znf_UBP, Znf_RING/FYVE/PHD
SPATA7	Other/Unknown	no		SPATA7
CRB1	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G
CRX	Transcription factor	no		HD, Homeodomain-like_sf, Otx_TF_C
IQCB1	Other/Unknown	no		IQ_motif_EF-hand-BS, ARM-type_fold, P-loop_NTPase
CEP290	Other/Unknown	no		Cep290, Cep209_CC5
IFT140	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf
LCA5	Other/Unknown	no		Lebercilin-like, Lebercilin_dom
AIPL1	Other/Unknown	no		TPR-like_helical_dom_sf, TPR_rpt, AIP/AIPL1/TTC9
GUCY2D	Kinase	yes	4.6.1.2	Prot_kinase_dom, A/G_cyclase, Ser-Thr/Tyr_kinase_cat_dom
IMPDH1	Enzyme (other)	yes	1.1.1.205	CBS_dom, IMP_DH_GMPRt, IMP_DH
LRAT	Enzyme (other)	yes	2.3.1.135	LRAT_dom, LRAT
NXNL1	Other/Unknown	no		Thioredoxin-like_fold, Thioredoxin_domain, RdCVF
GDF6	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGF-beta-like
KCNJ13	Ion channel	yes		KCNJ13, K_chnl_inward-rec_Kir_cyto, Ig_E-set
PCYT1A	Enzyme (other)	yes	2.7.7.15	Cyt_trans-like, Rossmann-like_a/b/a_fold, CCT
PRPH2	Other/Unknown	no		Peripherin/rom-1, Tetraspanin_EC2_sf, Peripherin/rom-1_CS
RGS9	Other/Unknown	no		DEP_dom, G-protein_gamma-like_dom, RGS
RHO	GPCR	yes		GPCR_Rhodpsn, Rhodopsin, Opsin
RP2	Other/Unknown	no		CARP_motif, Tubulin-bd_cofactor_C_dom, CAP/MinC_C
RPGR	Other/Unknown	no		Reg_chr_condens, RCC1/BLIP-II, Signaling_Regulatory_Domain
TEAD3	Other/Unknown	no		TEA/ATTS_dom, TEF_metazoa, TEF-5
GIGYF2	Other/Unknown	no		GYF, GYF-like_dom_sf, GRB10-interact_GYF
CFAP410	Other/Unknown	no		Leu-rich_rpt, U2A’_phosphoprotein32A_C, LRR_dom_sf
USH2A	Antibody/Immunoglobulin	yes		Laminin_G, LE_dom, FN3_dom
CDHR1	Other/Unknown	no		Cadherin-like_dom, Cadherin-like_sf, Cadherin_CS
PRPF31	Other/Unknown	no		Nop_dom, NOSIC, Prp31_C
GPHN	Other/Unknown	no		MoaB/Mog_dom, MoeA_linker/N, MoeA_C_domain_IV
NBAS	Scaffold/PPI	no		Quino_amine_DH_bsu, Sec39_domain, WD40/YVTN_repeat-like_dom_sf
PANK2	Enzyme (other)	yes	2.7.1.33	Type_II_PanK, ATPase_NBD
ADAMTS18	Protease	yes		TSP1_rpt, Peptidase_M12B, Peptidase_M12B_N
RIMS1	Transcription factor	no		C2_dom, PDZ, Rab_BD
WDR19	Transcription factor	no		WD40_rpt, TPR-like_helical_dom_sf, WD40/YVTN_repeat-like_dom_sf
PMPCA	Protease	yes	3.4.24.64	Pept_M16_Zn_BS, Peptidase_M16_C, Metalloenz_LuxS/M16
NPHP4	Other/Unknown	no		NPHP4, Ig_NPHP4_4th, Ig_NPHP4_3rd
TTC8	Other/Unknown	no		TPR-like_helical_dom_sf, TPR_rpt, BBS8
ZFYVE26	Transcription factor	no		Znf_FYVE, Znf_FYVE_PHD, Znf_RING/FYVE/PHD
INPP5E	Enzyme (other)	yes	3.1.3.36	IPPc, Endo/exonu/phosph_ase_sf, INPP5E
CNGB3	Ion channel	yes		cNMP-bd_dom, Ion_trans_dom, RmlC-like_jellyroll
AHI1	Scaffold/PPI	no		SH3_domain, WD40_rpt, WD40/YVTN_repeat-like_dom_sf
RLIG1	Other/Unknown	no		RLIG1
RPGRIP1L	Other/Unknown	no		C2_dom, C2-C2_1, RPGRIP1_fam

Expression context

Cohort genes with no expression data: 0.

61 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	67
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	12
primordial germ cell in gonad	10
right uterine tube	10
bronchial epithelial cell	8
pigmented layer of retina	7
buccal mucosa cell	7
calcaneal tendon	6
sperm	5
secondary oocyte	5
ventricular zone	5
retina	4
endothelial cell	4
oocyte	4
monocyte	4
left testis	3
right testis	3
skin of leg	3
sural nerve	3
adenohypophysis	3
right lobe of liver	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RPE65	92	tissue_specific	marker	pigmented layer of retina, retina, male germ line stem cell (sensu Vertebrata) in testis
TULP1	134	tissue_specific	marker	primordial germ cell in gonad, tendon of biceps brachii, retina
RPGRIP1	168	tissue_specific	marker	left testis, sperm, right testis
CCT2	301	ubiquitous	marker	sperm, primordial germ cell in gonad, male germ cell
NMNAT1	225	ubiquitous	yes	hindlimb stylopod muscle, muscle of leg, mucosa of transverse colon
IFT38	285	ubiquitous	marker	bronchial epithelial cell, calcaneal tendon, epithelium of bronchus
RD3	90	tissue_specific	yes	primordial germ cell in gonad, buccal mucosa cell, right lung
RDH12	180	tissue_specific	marker	upper arm skin, skin of leg, mammalian vulva
USP45	225	ubiquitous	marker	calcaneal tendon, secondary oocyte, epithelial cell of pancreas
SPATA7	263	ubiquitous	marker	right testis, sperm, left testis
CRB1	163	broad	marker	ganglionic eminence, ventricular zone, endothelial cell
CRX	54	tissue_specific	marker	pigmented layer of retina, retina, primordial germ cell in gonad
IQCB1	275	ubiquitous	marker	oocyte, epithelium of nasopharynx, nasopharynx
CEP290	278	ubiquitous	marker	right uterine tube, male germ line stem cell (sensu Vertebrata) in testis, ventricular zone
IFT140	214	ubiquitous	marker	right uterine tube, right lobe of thyroid gland, left lobe of thyroid gland
LCA5	214	ubiquitous	marker	mucosa of paranasal sinus, bronchial epithelial cell, bronchus
AIPL1	62	tissue_specific	marker	buccal mucosa cell, pancreatic ductal cell, tendon of biceps brachii
GUCY2D	121	tissue_specific	marker	buccal mucosa cell, esophagus mucosa, lower esophagus mucosa
IMPDH1	249	ubiquitous	marker	granulocyte, monocyte, leukocyte
LRAT	149	broad	marker	pigmented layer of retina, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad
NXNL1	92	tissue_specific	yes	primordial germ cell in gonad, right adrenal gland cortex, left adrenal gland cortex
GDF6	104	broad	marker	placenta, primordial germ cell in gonad, ventricular zone
KCNJ13	166	broad	marker	choroid plexus epithelium, pigmented layer of retina, retina
PCYT1A	274	ubiquitous	marker	sural nerve, monocyte, skin of leg
PRPH2	176	tissue_specific	marker	quadriceps femoris, vastus lateralis, hindlimb stylopod muscle
RGS9	178	ubiquitous	marker	putamen, caudate nucleus, islet of Langerhans
RHO	38	tissue_specific	marker	optic choroid, neuron projection bundle connecting eye with brain, diaphragm
RP2	242	ubiquitous	marker	monocyte, mononuclear cell, leukocyte
RPGR	281	ubiquitous	marker	sperm, bronchial epithelial cell, right uterine tube
TEAD3	247	ubiquitous	marker	muscle layer of sigmoid colon, lower esophagus, lower esophagus muscularis layer

Protein interactions among cohort

Intra-cohort edges: 219.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CCT2	7,097
PMPCA	3,679
RHO	3,578
IQCB1	3,562
RDH12	3,526
PRPF31	3,427
PROM1	3,302
IMPDH1	3,227
ALMS1	2,976
GIGYF2	2,914

Intra-cohort edges

A	B	Sources
ABCA4	CDHR1	string_interaction
ABCA4	CNGB3	string_interaction
ABCA4	GUCY2D	string_interaction
ABCA4	NXNL1	string_interaction
ABCA4	PROM1	string_interaction
ABCA4	PRPH2	string_interaction
ABCA4	RDH12	string_interaction
ABCA4	RHO	string_interaction
ABCA4	RPE65	string_interaction
ABCA4	RPGR	string_interaction
ABCA4	TULP1	string_interaction
ADAMTS18	LRP5	string_interaction
ADAMTS18	USH2A	string_interaction
AHI1	CEP290	string_interaction
AHI1	IQCB1	biogrid_interaction, string_interaction
AHI1	NPHP1	intact, string_interaction
AHI1	NPHP4	string_interaction
AHI1	RPGRIP1L	string_interaction
AHI1	SPATA7	intact
AIPL1	CDHR1	string_interaction
AIPL1	CEP290	string_interaction
AIPL1	CRX	string_interaction
AIPL1	DTHD1	string_interaction
AIPL1	GUCA1B	string_interaction
AIPL1	GUCY2D	string_interaction
AIPL1	IMPDH1	string_interaction
AIPL1	KCNJ13	string_interaction
AIPL1	LCA5	string_interaction
AIPL1	LRAT	string_interaction
AIPL1	NMNAT1	string_interaction
AIPL1	PRPH2	string_interaction
AIPL1	RD3	string_interaction
AIPL1	RDH12	string_interaction
AIPL1	RPE65	string_interaction
AIPL1	RPGRIP1	string_interaction
AIPL1	SPATA7	string_interaction
AIPL1	TULP1	string_interaction
ALMS1	CEP290	string_interaction
ALMS1	RHO	string_interaction
CCT2	RPE65	biogrid_interaction, intact
CDHR1	GUCY2D	string_interaction
CDHR1	PROM1	biogrid_interaction, string_interaction
CDHR1	PRPH2	string_interaction
CDHR1	RIMS1	string_interaction
CDHR1	RPGRIP1	string_interaction
CEP290	CFAP410	intact
CEP290	INPP5E	string_interaction
CEP290	IQCB1	biogrid_interaction, intact, string_interaction
CEP290	KCNJ13	string_interaction
CEP290	LCA5	string_interaction

Structural data

PDB: 33 · AlphaFold-only: 33 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CCT2	P78371	65
PRPF31	Q8WWY3	30
IMPDH1	P20839	18
TEAD3	Q99594	10
CNGB3	Q9NQW8	9
ABCA4	P78363	8
NMNAT1	Q9HAN9	6
AIPL1	Q9NZN9	6
KCNJ13	O60928	5
GRM6	O15303	5
IFT140	Q96RY7	4
RHO	P08100	4
WDR19	Q8NEZ3	4
RP2	O75695	3
RPGR	Q92834	3
GIGYF2	Q6Y7W6	3
TULP1	O00294	2
NPHP1	O15259	2
RPGRIP1	Q96KN7	1
RD3	Q7Z3Z2	1
CRB1	P82279	1
CRX	O43186	1
PRPH2	P23942	1
CFAP410	O43822	1
GPHN	Q9NQX3	1
PANK2	Q9BZ23	1
RIMS1	Q86UR5	1
ZFYVE26	Q68DK2	1
INPP5E	Q9NRR6	1
AHI1	Q8N157	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
RPE65	Q16518	95.34
FSCN2	O14926	93.79
RDH12	Q96NR8	92.21
RLIG1	Q8N999	92.03
PDE6A	P16499	89.80
PDE6B	P35913	89.72
PMPCA	Q10713	88.46
PROM1	O43490	85.68
TTC8	Q8TAM2	84.48
SLC38A8	A6NNN8	83.83
LRAT	O95237	83.69
IQCB1	Q15051	83.05
GUCY2D	Q02846	82.37
CDHR1	Q96JP9	78.79
LRP5	O75197	78.65
IFT38	Q96AJ1	78.02
PCYT1A	P49585	76.82
NXNL1	Q96CM4	74.82
NBAS	A2RRP1	74.42
RGS9	O75916	74.35
ADAMTS18	Q8TE60	73.83
NPHP4	O75161	72.44
GUCA1B	Q9UMX6	71.38
GDF6	Q6KF10	70.88
DTHD1	Q6ZMT9	69.99
PEX1	O43933	67.19
USP45	Q70EL2	66.28
LCA5	Q86VQ0	64.05
OTX2	P32243	60.99
CEP290	O15078	60.90

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 132. Enrichment computed across 67 evidence-associated genes (44 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 44 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Inactivation, recovery and regulation of the phototransduction cascade	6	43.3×	5e-07	GUCY2D, RGS9, RHO, GUCA1B, PDE6A, PDE6B
The canonical retinoid cycle in rods (twilight vision)	5	59.0×	1e-06	RPE65, RDH12, LRAT, RHO, ABCA4
Anchoring of the basal body to the plasma membrane	7	18.0×	4e-06	IQCB1, CEP290, NPHP4, AHI1, RPGRIP1L, ALMS1, NPHP1
Cilium Assembly	6	14.8×	9e-05	CCT2, IQCB1, CEP290, INPP5E, AHI1, ALMS1
Activation of the phototransduction cascade	3	64.9×	3e-04	RHO, PDE6A, PDE6B
Organelle biogenesis and maintenance	6	9.0×	0.001	CCT2, IQCB1, CEP290, INPP5E, AHI1, ALMS1
Retinoid cycle disease events	2	129.8×	0.001	LRAT, ABCA4
Diseases associated with visual transduction	2	129.8×	0.001	LRAT, ABCA4
Diseases of the neuronal system	2	129.8×	0.001	LRAT, ABCA4
Trafficking of myristoylated proteins to the cilium	2	103.8×	0.002	RP2, NPHP3
Visual phototransduction	3	17.7×	0.008	RPE65, LRAT, ABCA4
Intraflagellar transport	3	13.7×	0.015	IFT38, IFT140, WDR19
Hedgehog ‘off’ state	3	12.2×	0.019	IFT140, WDR19, RPGRIP1L
Defective visual phototransduction due to RDH12 loss of function	1	259.6×	0.032	RDH12
Defective visual phototransduction due to ABCA4 loss of function	1	259.6×	0.032	ABCA4
BBSome-mediated cargo-targeting to cilium	2	22.6×	0.032	CCT2, TTC8
Nucleotide biosynthesis	1	129.8×	0.056	IMPDH1
Defective visual phototransduction due to LRAT loss of function	1	129.8×	0.056	LRAT
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	2	13.7×	0.065	CCT2, RGS9
Sensory Perception	3	6.5×	0.072	RPE65, LRAT, ABCA4
ARL13B-mediated ciliary trafficking of INPP5E	1	86.5×	0.072	INPP5E
Centrosome maturation	2	11.5×	0.077	CEP290, ALMS1
Cargo trafficking to the periciliary membrane	2	11.3×	0.077	CCT2, INPP5E
Signaling by LRP5 mutants	1	37.1×	0.135	LRP5
Molybdenum cofactor biosynthesis	1	37.1×	0.135	GPHN
Ca2+ pathway	2	8.1×	0.135	PDE6A, PDE6B
Coenzyme A biosynthesis	1	32.4×	0.137	PANK2
RUNX3 regulates YAP1-mediated transcription	1	32.4×	0.137	TEAD3
Opsins	1	28.8×	0.137	RHO
Signaling by RNF43 mutants	1	28.8×	0.137	LRP5

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 66 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
visual perception	25	30.1×	2e-28	RPE65, TULP1, RPGRIP1, RD3, RDH12, SPATA7, CRX, AIPL1 (+17 more)
photoreceptor cell maintenance	15	81.5×	2e-23	TULP1, RDH12, USP45, SPATA7, CRB1, IQCB1, LCA5, RHO (+7 more)
retina development in camera-type eye	10	38.7×	1e-11	TULP1, RD3, CRX, NPHP4, GRM6, NPHP1, NR2E3, PDE6A (+2 more)
photoreceptor cell outer segment organization	6	95.8×	2e-09	CRB1, IFT140, CDHR1, NPHP4, AHI1, PRPH2
cilium assembly	12	13.4×	6e-09	IFT38, IQCB1, CEP290, IFT140, RP2, RPGR, CFAP410, WDR19 (+4 more)
eye photoreceptor cell development	5	63.8×	8e-07	TULP1, CEP290, RPGR, FSCN2, NR2E3
detection of light stimulus involved in visual perception	5	49.1×	3e-06	RPE65, TULP1, CRB1, GRM6, PRPH2
non-motile cilium assembly	6	26.4×	5e-06	RPGRIP1, CEP290, IFT140, TTC8, RPGRIP1L, NPHP3
phototransduction, visible light	4	78.6×	7e-06	AIPL1, RHO, ABCA4, PDE6B
maintenance of animal organ identity	3	153.2×	2e-05	IQCB1, USH2A, NPHP3
retinoid metabolic process	4	30.0×	3e-04	RPE65, RDH12, LRAT, ABCA4
retinal cell apoptotic process	2	255.3×	5e-04	GDF6, PDE6B
establishment or maintenance of cell polarity	4	24.3×	7e-04	CRB1, RPGRIP1L, FSCN2, NPHP3
retina homeostasis	3	51.1×	7e-04	RPE65, TULP1, AIPL1
camera-type eye photoreceptor cell differentiation	2	102.1×	0.004	TTC8, PROM1
regulation of smoothened signaling pathway	3	28.4×	0.004	IFT140, RPGRIP1L, OTX2
visual behavior	2	85.1×	0.005	NPHP4, NPHP1
neural tube patterning	2	85.1×	0.005	IFT140, RPGRIP1L
vitamin A metabolic process	2	73.0×	0.006	RPE65, LRAT
protein localization to photoreceptor outer segment	2	73.0×	0.006	TULP1, SPATA7
phototransduction	3	22.5×	0.006	RHO, GUCA1B, NR2E3
retina morphogenesis in camera-type eye	2	56.7×	0.010	LRP5, PROM1
regulation of opsin-mediated signaling pathway	2	51.1×	0.011	AIPL1, GUCY2D
retinal rod cell development	2	51.1×	0.011	RPGRIP1, RPGRIP1L
positive regulation of bicellular tight junction assembly	2	51.1×	0.011	NPHP4, NPHP1
receptor guanylyl cyclase signaling pathway	2	39.3×	0.018	GUCY2D, GUCA1B
embryonic camera-type eye development	2	36.5×	0.020	IFT140, WDR19
intraciliary retrograde transport	2	34.0×	0.022	IFT140, WDR19
establishment of planar polarity	2	31.9×	0.024	TTC8, RPGRIP1L
cellular response to light stimulus	2	31.9×	0.024	CRB1, RHO

Therapeutics

Drugs indicated for this disease

1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Voretigene Neparvovec	Approved (phase 4)

Drug target analysis

Approved (phase 4): 5 · Phase ≥3: 6 · Phased (≥1): 9 · Undrugged: 58

Druggability breadth: 22 of 67 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
IMPDH1	MYCOPHENOLIC ACID
PCYT1A	ENCORAFENIB
GRM6	MICONAZOLE
PDE6A	VARDENAFIL
PDE6B	VARDENAFIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PDE6A	8	4
PDE6B	6	4
GRM6	3	4
IMPDH1	2	4
CCT2	1	2
LRAT	1	3
PCYT1A	1	4
TEAD3	1	2
PRPF31	1	2
RPE65	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MYCOPHENOLIC ACID	4	IMPDH1
ENCORAFENIB	4	PCYT1A
MICONAZOLE	4	GRM6
VARDENAFIL	4	PDE6A, PDE6B
SILDENAFIL	4	PDE6A, PDE6B
TADALAFIL	4	PDE6A, PDE6B
DIPYRIDAMOLE	4	PDE6A, PDE6B
ANTAZOLINE	4	PDE6A
FRAMYCETIN	3	LRAT
GLUTAMIC ACID	3	GRM6
MOLIBRESIB	2	CCT2, PRPF31
MERIMEPODIB	2	IMPDH1
PIRLINDOLE	2	TEAD3
EGLUMETAD	2	GRM6
ZAPRINAST	2	PDE6A, PDE6B
TBA-7371	2	PDE6A, PDE6B
JNJ-42396302	1	PDE6A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 12.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
GRM6	103	Functional:55, Binding:48
PDE6A	69	Binding:65, ADMET:3, Functional:1
PDE6B	57	Binding:54, ADMET:3
IMPDH1	46	Binding:40, Functional:6
TEAD3	39	Binding:39
KCNJ13	9	Binding:9
CCT2	8	Binding:8
PRPF31	6	Binding:6
NR2E3	6	Functional:5, Binding:1
GIGYF2	5	Binding:5
NMNAT1	3	Binding:3
USP45	3	Binding:3
AIPL1	1	Binding:1
LRAT	1	Binding:1
PCYT1A	1	Binding:1
RHO	1	Binding:1
CFAP410	1	Binding:1
NBAS	1	Binding:1
PANK2	1	Binding:1
PMPCA	1	Binding:1
LRP5	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
RPE65	3.1.1.64, 5.3.3.22	retinoid isomerohydrolase, lutein isomerase
CCT2	3.6.4.B10
NMNAT1	2.7.7.1, 2.7.7.18	nicotinamide-nucleotide adenylyltransferase, nicotinate-nucleotide adenylyltransferase
RDH12	1.1.1.105, 1.1.1.300	all-trans-retinol dehydrogenase (NAD+), NADP-retinol dehydrogenase
GUCY2D	4.6.1.2	guanylate cyclase
IMPDH1	1.1.1.205	IMP dehydrogenase
LRAT	2.3.1.135	phosphatidylcholine-retinol O-acyltransferase
PCYT1A	2.7.7.15	choline-phosphate cytidylyltransferase
PANK2	2.7.1.33	pantothenate kinase
PMPCA	3.4.24.64	mitochondrial processing peptidase
INPP5E	3.1.3.36	phosphoinositide 5-phosphatase
PEX1	3.6.4.7	peroxisome-assembly ATPase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
GRM6	103

Pharmacogenomics

Cohort genes with a PharmGKB record: 66; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

17 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
MYCOPHENOLIC ACID	4	IMPDH1
ENCORAFENIB	4	PCYT1A
MICONAZOLE	4	GRM6
VARDENAFIL	4	PDE6A, PDE6B
SILDENAFIL	4	PDE6A, PDE6B
TADALAFIL	4	PDE6A, PDE6B
DIPYRIDAMOLE	4	PDE6A, PDE6B
ANTAZOLINE	4	PDE6A
FRAMYCETIN	3	LRAT
GLUTAMIC ACID	3	GRM6
MOLIBRESIB	2	CCT2, PRPF31
MERIMEPODIB	2	IMPDH1
PIRLINDOLE	2	TEAD3
EGLUMETAD	2	GRM6
ZAPRINAST	2	PDE6A, PDE6B
TBA-7371	2	PDE6A, PDE6B
JNJ-42396302	1	PDE6A

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	5	IMPDH1, PCYT1A, GRM6, PDE6A, PDE6B
B	Phased (≥1) drug, not yet approved	4	CCT2, LRAT, TEAD3, PRPF31
C	Druggable family + PDB, no drug	8	NMNAT1, KCNJ13, RHO, PANK2, INPP5E, CNGB3, ABCA4, NR2E3
D	Druggable family + AlphaFold only, no drug	8	RPE65, RDH12, USP45, GUCY2D, USH2A, ADAMTS18, PMPCA, PEX1
E	Difficult family or no structure, no drug	42	TULP1, RPGRIP1, IFT38, RD3, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140 (+32 more)

Undrugged target profiles

58 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
RPE65	0	LRAT
TULP1	0	LRAT
RD3	0	PDE6B
RDH12	0	IMPDH1
SPATA7	0	LRAT
NXNL1	0	PDE6B
PRPH2	0	PDE6B
FSCN2	0	PRPF31
GUCA1B	0	PDE6B
RPGRIP1	0	—
NMNAT1	3	—
IFT38	0	—
USP45	3	—
CRB1	0	—
CRX	0	—
IQCB1	0	—
CEP290	0	—
IFT140	0	—
LCA5	0	—
AIPL1	1	—
GUCY2D	0	—
GDF6	0	—
KCNJ13	9	—
RGS9	0	—
RHO	1	—
RP2	0	—
RPGR	0	—
GIGYF2	5	—
CFAP410	1	—
USH2A	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 22.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1/PHASE2	8
Not specified	7
PHASE3	2
PHASE2/PHASE3	2
PHASE1	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00999609	PHASE3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
NCT03913143	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
NCT06891443	PHASE3	RECRUITING	Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT01208389	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2
NCT03920007	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
NCT05203939	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
NCT05906953	PHASE1/PHASE2	RECRUITING	Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)
NCT00749957	PHASE1/PHASE2	COMPLETED	Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis
NCT01496040	PHASE1/PHASE2	COMPLETED	Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
NCT02781480	PHASE1/PHASE2	COMPLETED	Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)
NCT03913130	PHASE1/PHASE2	TERMINATED	Extension Study to Study PQ-110-001 (NCT03140969)
NCT00516477	PHASE1	COMPLETED	Safety Study in Subjects With Leber Congenital Amaurosis
NCT00821340	PHASE1	COMPLETED	Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
NCT06088992	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT07026565	Not specified	NOT_YET_RECRUITING	Psychotherapy Group for Parents of Children With LCA
NCT02575430	Not specified	COMPLETED	Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT
NCT02714816	Not specified	COMPLETED	Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
NCT02946879	Not specified	COMPLETED	Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)
NCT02970266	Not specified	COMPLETED	Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
VORETIGENE NEPARVOVEC	4	3
POLYMYXIN B	4	1
TRIMETHOPRIM	4	1
SEPOFARSEN	2	4
CHEMBL15720	0	1
CHEMBL2397513	0	1
CHEMBL373756	0	1
CHEMBL3989738	0	1
CHEMBL4636958	0	1
CHEMBL5281080	0	1