HMX1

Summary

HMX1 (H6 family homeobox 1, HGNC:5017) is a protein-coding gene on chromosome 4p16.1, encoding Homeobox protein HMX1 (Q9NP08). DNA-binding protein that binds to the 5’-CAAG-3’ core sequence.

This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5’-CAAG-3’ core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear.

Source: NCBI Gene 3166 — RefSeq curated summary.

At a glance

• Gene–disease (curated): oculoauricular syndrome (Definitive, ClinGen)
• Clinical variants (ClinVar): 389 total — 3 pathogenic
• Phenotypes (HPO): 33
• MANE Select transcript: NM_018942

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5017
Approved symbol	HMX1
Name	H6 family homeobox 1
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Aliases	H6, NKX5-3
Ensembl gene	ENSG00000215612
Ensembl biotype	protein_coding
OMIM	142992
Entrez	3166

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000400677, ENST00000506970

RefSeq mRNA: 2 — MANE Select: NM_018942 NM_001306142, NM_018942

CCDS: CCDS47018, CCDS77900

Canonical transcript exons

ENST00000400677 — 2 exons

Exon	Start	End
ENSE00001544180	8867048	8868345
ENSE00002034655	8871221	8871839

Expression profiles

Bgee: expression breadth broad, 43 present calls, max score 82.46.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4885 / max 131.2477, expressed in 152 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51334	0.3366	108
51335	0.0936	40
51333	0.0584	16

Top tissues by expression

120 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.90	gold quality
amygdala	UBERON:0001876	63.32	gold quality
temporal lobe	UBERON:0001871	63.18	gold quality
putamen	UBERON:0001874	61.50	gold quality
hypothalamus	UBERON:0001898	60.93	gold quality
substantia nigra	UBERON:0002038	60.61	gold quality
Ammon’s horn	UBERON:0001954	59.77	gold quality
caudate nucleus	UBERON:0001873	56.16	gold quality
anterior cingulate cortex	UBERON:0009835	56.11	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	55.70	gold quality
nucleus accumbens	UBERON:0001882	55.32	gold quality
primary visual cortex	UBERON:0002436	54.64	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	54.30	gold quality
cerebral cortex	UBERON:0000956	53.93	gold quality
Brodmann (1909) area 9	UBERON:0013540	53.83	gold quality
right frontal lobe	UBERON:0002810	52.10	gold quality
brain	UBERON:0000955	52.09	gold quality
left testis	UBERON:0004533	51.54	gold quality
right testis	UBERON:0004534	51.29	gold quality
frontal cortex	UBERON:0001870	51.15	gold quality
testis	UBERON:0000473	50.96	gold quality
prefrontal cortex	UBERON:0000451	50.27	gold quality
superior frontal gyrus	UBERON:0002661	49.45	gold quality
ganglionic eminence	UBERON:0004023	47.92	gold quality
cortical plate	UBERON:0005343	47.72	silver quality
ventricular zone	UBERON:0003053	47.05	silver quality
right hemisphere of cerebellum	UBERON:0014890	41.59	gold quality
cerebellum	UBERON:0002037	40.62	gold quality
cerebellar cortex	UBERON:0002129	40.43	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
CXCL8
NTRK1
TH

Upstream regulators (CollecTRI, top): HMX3

miRNA regulators (miRDB)

12 targeting HMX1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-376A-5P	97.70	65.61	863
HSA-MIR-6849-3P	97.25	64.57	1371
HSA-MIR-9900	96.06	65.48	557
HSA-MIR-6089	89.72	61.35	324

Literature-anchored findings (GeneRIF, showing 4)

• Linkage analysis and mutation screening revealed in the first exon of the NKX5-3 gene a homozygous 26 nucleotide deletion, generating a truncating protein that lacked the complete homeodomain. (PMID:18423520)
• The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy. (PMID:21417677)
• Mutation analysis revealed a novel homozygous nonsense mutation c.487G>T in the second exon of the HMX1 that predicted to introduce a premature stop codon at position 163 (p.E163*). (PMID:29140751)
• Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia. (PMID:32552830)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	hmx1	ENSDARG00000095651
mus_musculus	Hmx1	ENSMUSG00000067438
rattus_norvegicus	Hmx1	ENSRNOG00000009154
caenorhabditis_elegans		WBGENE00003377

Paralogs (3): HOXA9 (ENSG00000078399), HMX3 (ENSG00000188620), HMX2 (ENSG00000188816)

Protein

Protein identifiers

Homeobox protein HMX1 — Q9NP08 (reviewed: Q9NP08)

Alternative names: Homeobox protein H6

All UniProt accessions (2): Q9NP08, F1T0J4

UniProt curated annotations — full annotation on UniProt →

Function. DNA-binding protein that binds to the 5’-CAAG-3’ core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear.

Subcellular location. Nucleus.

Disease relevance. Oculoauricular syndrome (OCACS) [MIM:612109] A syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the HMX homeobox family.

RefSeq proteins (2): NP_001293071, NP_061815* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR020479	HD_metazoa	Domain
IPR051300	HMX_Homeobox_TF	Family

Pfam: PF00046

UniProt features (12 total): compositionally biased region 5, sequence conflict 2, short sequence motif 2, chain 1, DNA-binding region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NP08-F1	63.45	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 130 (showing top): SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_DN, chr4p16, MZF1_02, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MEISSNER_BRAIN_HCP_WITH_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K4ME3_AND_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ATF2_UP.V1_UP, SRC_UP.V1_UP, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY

GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), sequence-specific double-stranded DNA binding (GO:1990837)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
negative regulation of RNA biosynthetic process	1
negative regulation of DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription cis-regulatory region binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
nucleic acid binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

216 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HMX1	PAX2	Q02962	600
HMX1	PPP2R2C	Q9Y2T4	458
HMX1	TSHZ2	Q9NRE2	336
HMX1	ELFN1	P0C7U0	331
HMX1	SH3KBP1	Q96B97	329
HMX1	SLC6A9	P48067	305
HMX1	SEPTIN4	O43236	277
HMX1	KCNJ14	Q9UNX9	270
HMX1	LRRFIP1	Q32MZ4	260
HMX1	KCNA7	Q96RP8	256
HMX1	SEMA3F	Q13275	254
HMX1	MSX1	P28360	253
HMX1	PPP2R2D	Q66LE6	248
HMX1	UHRF1	Q96T88	244
HMX1	PDGFD	Q9GZP0	241

IntAct

0 interactions, top by confidence:

BioGRID (1): HMX1 (Negative Genetic)

ESM2 similar proteins: A0A286YF58, A0A494C0N9, A0A494C0Y3, A0A7I2V3R4, A2VDX9, A6NIN4, D3YXK1, G3UXB3, O15370, O15522, O35392, O70218, O70220, O89113, P0DPE3, P12980, P17542, P22091, P28283, P82976, Q04890, Q05916, Q05917, Q13461, Q14V87, Q15270, Q19A40, Q5T230, Q5VY09, Q63244, Q6F5E0, Q6SPE9, Q6SPF0, Q7RTU7, Q80WY3, Q8TD94, Q8WY41, Q8WZ71, Q91XV7, Q96Q04

Diamond homologs: A1YF16, A1YG93, A2RU54, A2T764, A6NCS4, A6NHT5, G5EE18, M0R6D8, O02786, O35767, O42230, O57601, O60479, O70218, P10181, P13297, P15857, P19601, P20009, P23410, P28360, P28361, P28362, P35548, P35993, P40764, P42580, P42581, P43687, P43688, P48031, P50219, P50223, P50574, P50575, P50576, P50577, P52953, P53547, P53770

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

389 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	234
Likely benign	130
Benign	18

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
14865	NM_018942.3(HMX1):c.215_240del (p.Leu72fs)	Pathogenic
192315	NM_018942.3(HMX1):c.650A>C (p.Gln217Pro)	Pathogenic
2628024	NM_018942.3(HMX1):c.691_692dup (p.Glu232fs)	Pathogenic

SpliceAI

274 predictions. Top by Δscore:

Variant	Effect	Δscore
4:8868346:C:CC	acceptor_gain	0.9900
4:8871219:A:AC	donor_gain	0.9900
4:8871220:C:CC	donor_gain	0.9900
4:8871220:CTGT:C	donor_gain	0.9900
4:8871448:T:TA	donor_gain	0.9900
4:8868342:CTGG:C	acceptor_gain	0.9800
4:8868343:TGG:T	acceptor_gain	0.9800
4:8868344:GGC:G	acceptor_loss	0.9800
4:8868345:GC:G	acceptor_loss	0.9800
4:8868346:C:CG	acceptor_loss	0.9800
4:8871404:A:C	donor_gain	0.9700
4:8868341:GCTGG:G	acceptor_gain	0.9600
4:8868342:CTGGC:C	acceptor_gain	0.9600
4:8868343:TGGCT:T	acceptor_gain	0.9600
4:8868344:GG:G	acceptor_gain	0.9600
4:8868344:GGCTG:G	acceptor_gain	0.9600
4:8868345:GCTGC:G	acceptor_gain	0.9600
4:8871216:CTCA:C	donor_gain	0.9600
4:8871220:CT:C	donor_gain	0.9600
4:8871214:CACT:C	donor_loss	0.9500
4:8871217:TCA:T	donor_loss	0.9500
4:8871218:CA:C	donor_loss	0.9500
4:8871213:TCAC:T	donor_loss	0.9400
4:8868349:C:CT	acceptor_gain	0.9300
4:8871215:A:AC	donor_gain	0.9300
4:8871216:C:CC	donor_gain	0.9300
4:8871220:CTG:C	donor_gain	0.9300
4:8871219:ACTGT:A	donor_gain	0.9200
4:8871220:CTGTC:C	donor_gain	0.9200
4:8868350:A:T	acceptor_gain	0.9100

AlphaMissense

2165 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:8867963:C:A	K259N	1.000
4:8867963:C:G	K259N	1.000
4:8867964:T:A	K259M	1.000
4:8867965:T:C	K259E	1.000
4:8867969:C:A	K257N	1.000
4:8867969:C:G	K257N	1.000
4:8867970:T:A	K257M	1.000
4:8867971:T:C	K257E	1.000
4:8867972:G:C	N256K	1.000
4:8867972:G:T	N256K	1.000
4:8867974:T:C	N256D	1.000
4:8867976:C:G	R255P	1.000
4:8867977:G:T	R255S	1.000
4:8867979:C:G	R254P	1.000
4:8867980:G:C	R254G	1.000
4:8867980:G:T	R254S	1.000
4:8867981:G:C	N253K	1.000
4:8867981:G:T	N253K	1.000
4:8867982:T:A	N253I	1.000
4:8867982:T:C	N253S	1.000
4:8867982:T:G	N253T	1.000
4:8867983:T:C	N253D	1.000
4:8867983:T:G	N253H	1.000
4:8867984:C:A	Q252H	1.000
4:8867984:C:G	Q252H	1.000
4:8867985:T:G	Q252P	1.000
4:8867986:G:T	Q252K	1.000
4:8867987:G:C	F251L	1.000
4:8867987:G:T	F251L	1.000
4:8867988:A:C	F251C	1.000

dbSNP variants (sampled 300 via entrez): RS1000069281 (4:8854761 T>C), RS1000308784 (4:8850554 G>C), RS1000336046 (4:8862096 C>G,T), RS1000393901 (4:8855990 T>C), RS1000458662 (4:8851420 C>T), RS1000584291 (4:8858034 G>A), RS1000620669 (4:8861445 G>C), RS1000655774 (4:8858779 C>T), RS1000674455 (4:8861361 C>T), RS1000800569 (4:8845916 GGAGA>G,GGA), RS1000835542 (4:8864931 A>C), RS1000958069 (4:8858231 G>A,T), RS1000985939 (4:8862009 T>G), RS1000991958 (4:8858869 G>A), RS1000997658 (4:8855004 C>T)

Disease associations

OMIM: gene MIM:142992 | disease phenotypes: MIM:612109, MIM:613517

GenCC curated gene-disease

Disease	Classification	Inheritance
oculoauricular syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
oculoauricular syndrome	Definitive	AR

Mondo (3): inherited retinal dystrophy (MONDO:0019118), oculoauricular syndrome (MONDO:0012802), isolated microphthalmia 6 (MONDO:0013293)

Orphanet (3): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Oculoauricular syndrome, Schorderet type (Orphanet:157962), Isolated microphthalmia-anophthalmia-coloboma (Orphanet:2542)

HPO phenotypes

33 total (30 of 33 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000369	Low-set ears
HP:0000387	Absent earlobe
HP:0000402	Stenosis of the external auditory canal
HP:0000480	Retinal coloboma
HP:0000482	Microcornea
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000533	Chorioretinal atrophy
HP:0000541	Retinal detachment
HP:0000548	Cone/cone-rod dystrophy
HP:0000567	Chorioretinal coloboma
HP:0000568	Microphthalmia
HP:0000579	Nasolacrimal duct obstruction
HP:0000612	Iris coloboma
HP:0000627	Posterior embryotoxon
HP:0000639	Nystagmus
HP:0000647	Sclerocornea
HP:0000666	Horizontal nystagmus
HP:0000667	Phthisis bulbi
HP:0001104	Macular hypoplasia
HP:0003298	Spina bifida occulta
HP:0003778	Short mandibular rami
HP:0006934	Congenital nystagmus
HP:0007700	Ocular anterior segment dysgenesis
HP:0007906	Ocular hypertension
HP:0011484	Posterior synechiae of the anterior chamber
HP:0011523	Iris cyst
HP:0012376	Microphakia

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658
C567416	Oculoauricular Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
trichostatin A	affects expression, decreases reaction	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
pentanal	increases expression	1
tebuconazole	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Irinotecan	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation	1
Formaldehyde	decreases expression	1
Methapyrilene	increases methylation	1
Nickel	decreases reaction, affects expression	1
Selenium	increases expression	1
Tunicamycin	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Thapsigargin	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A2U1	SEES3-1V human HMX1, clone1	Embryonic stem cell	Male
CVCL_A2U2	SEES3-1V human HMX1, clone2	Embryonic stem cell	Male
CVCL_A2U3	SEES3-1V human HMX1, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

39 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
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.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
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