LRIT3

Summary

LRIT3 (leucine rich repeat, Ig-like and transmembrane domains 3, HGNC:24783) is a protein-coding gene on chromosome 4q25, encoding Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 (Q3SXY7). Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells.

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F.

Source: NCBI Gene 345193 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital stationary night blindness 1F (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 463 total — 4 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 9
• MANE Select transcript: NM_198506

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24783
Approved symbol	LRIT3
Name	leucine rich repeat, Ig-like and transmembrane domains 3
Location	4q25
Locus type	gene with protein product
Status	Approved
Aliases	FLJ44691, FIGLER4, CSNB1F
Ensembl gene	ENSG00000183423
Ensembl biotype	protein_coding
OMIM	615004
Entrez	345193

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000327908, ENST00000594814, ENST00000876618

RefSeq mRNA: 1 — MANE Select: NM_198506 NM_198506

CCDS: CCDS3688

Canonical transcript exons

ENST00000594814 — 4 exons

Exon	Start	End
ENSE00001310990	109867641	109867946
ENSE00001576743	109869645	109872315
ENSE00003166914	109848107	109848317
ENSE00003180982	109851504	109851976

Expression profiles

Bgee: expression breadth ubiquitous, 114 present calls, max score 78.85.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0188 / max 18.5591, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49250	0.0188	4

Top tissues by expression

128 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	78.85	gold quality
superior frontal gyrus	UBERON:0002661	55.92	gold quality
cerebellar hemisphere	UBERON:0002245	55.91	gold quality
cerebellar cortex	UBERON:0002129	55.89	gold quality
cerebellum	UBERON:0002037	55.76	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.58	gold quality
primary visual cortex	UBERON:0002436	54.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	54.29	gold quality
cortex of kidney	UBERON:0001225	54.28	gold quality
metanephros cortex	UBERON:0010533	54.23	gold quality
tibial nerve	UBERON:0001323	53.13	gold quality
granulocyte	CL:0000094	53.04	gold quality
right frontal lobe	UBERON:0002810	52.73	gold quality
skeletal muscle tissue	UBERON:0001134	52.64	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	52.11	gold quality
skin of leg	UBERON:0001511	51.32	gold quality
right coronary artery	UBERON:0001625	51.25	gold quality
zone of skin	UBERON:0000014	51.07	gold quality
skin of abdomen	UBERON:0001416	50.64	gold quality
right lobe of liver	UBERON:0001114	50.48	silver quality
adult mammalian kidney	UBERON:0000082	50.47	gold quality
endometrium	UBERON:0001295	50.42	silver quality
right uterine tube	UBERON:0001302	50.38	gold quality
nucleus accumbens	UBERON:0001882	50.30	gold quality
cerebral cortex	UBERON:0000956	50.09	gold quality
kidney	UBERON:0002113	50.05	gold quality
muscle tissue	UBERON:0002385	49.85	silver quality
frontal cortex	UBERON:0001870	49.77	gold quality
popliteal artery	UBERON:0002250	49.77	gold quality
tibial artery	UBERON:0007610	49.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

71 targeting LRIT3, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440

Literature-anchored findings (GeneRIF, showing 3)

• The exact role of this LRR protein in cCSNB remains to be elucidated. (PMID:23246293)
• In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. (PMID:27428514)
• LRIT3 is likely involved in coordination of the transsynaptic communication between cones and ON-BCs during synapse formation and (PMID:28334377)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	lrit3a	ENSDARG00000055463
danio_rerio	lrit3b	ENSDARG00000057054
mus_musculus	Lrit3	ENSMUSG00000093865
rattus_norvegicus	Lrit3	ENSRNOG00000061097
drosophila_melanogaster	Con	FBGN0005775
drosophila_melanogaster	kek3	FBGN0028370
caenorhabditis_elegans	lron-9	WBGENE00011971
caenorhabditis_elegans		WBGENE00020649

Paralogs (22): CHADL (ENSG00000100399), LGI1 (ENSG00000108231), LGR6 (ENSG00000133067), CHAD (ENSG00000136457), LRIG3 (ENSG00000139263), LGR5 (ENSG00000139292), LRIG1 (ENSG00000144749), LRRTM2 (ENSG00000146006), LRIT1 (ENSG00000148602), LGI2 (ENSG00000153012), LGI4 (ENSG00000153902), LRRC52 (ENSG00000162763), ELFN2 (ENSG00000166897), LGI3 (ENSG00000168481), LRG1 (ENSG00000171236), CPN2 (ENSG00000178772), LRRC26 (ENSG00000184709), LRIG2 (ENSG00000198799), LGR4 (ENSG00000205213), ELFN1 (ENSG00000225968), LRRC24 (ENSG00000254402), TRIL (ENSG00000255690)

Protein

Protein identifiers

Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 — Q3SXY7 (reviewed: Q3SXY7)

All UniProt accessions (2): A0A0A0MR64, Q3SXY7

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells. Required for normal transmission of a light-evoked stimulus from the cone photoreceptor cells to the ON-bipolar cells and ON-ganglion cells in the inner retina. Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips. Seems to play a specific role in synaptic contacts made by ON-bipolar cells with cone photoreceptor pedicles. May also have a role in cone synapse formation. Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi. Could be a regulator of the FGFRs.

Subcellular location. Cell projection. Dendrite. Perikaryon. Endoplasmic reticulum membrane.

Tissue specificity. Detected in the outer plexiform layer (OPL) of the retina where it localizes to ON-bipolar cells (at protein level).

Post-translational modifications. Glycosylated.

Disease relevance. Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058] An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q3SXY7-1	1	yes
Q3SXY7-2	2

RefSeq proteins (1): NP_940908* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050467	LRFN	Family

Pfam: PF13855, PF13927

UniProt features (29 total): sequence variant 8, repeat 5, domain 3, splice variant 2, topological domain 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1, disulfide bond 1, mutagenesis site 1, sequence conflict 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3SXY7-F1	70.06	0.35

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 275–328

Glycosylation sites (1): 296

Mutagenesis-validated functional residues (1):

Position	Phenotype
53	no effect on lrit3 function.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 79 (showing top): chr4q25, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_SYNAPSE_ASSEMBLY, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_FIBROBLAST_GROWTH_FACTOR, GOBP_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_NERVE_DEVELOPMENT, GOBP_RESPONSE_TO_RADIATION, GOBP_SYNAPTIC_SIGNALING, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_RESPONSE_TO_GROWTH_FACTOR, GOBP_SENSORY_PERCEPTION, GOBP_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY

GO Biological Process (7): visual perception (GO:0007601), intracellular protein localization (GO:0008104), response to light stimulus (GO:0009416), gene expression (GO:0010467), regulation of fibroblast growth factor receptor signaling pathway (GO:0040036), synapse assembly involved in innervation (GO:0060386), synaptic signaling (GO:0099536)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): endoplasmic reticulum membrane (GO:0005789), dendrite (GO:0030425), perikaryon (GO:0043204), synapse (GO:0045202), cell tip (GO:0051286), endoplasmic reticulum (GO:0005783), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
sensory perception of light stimulus	1
macromolecule localization	1
response to radiation	1
macromolecule biosynthetic process	1
fibroblast growth factor receptor signaling pathway	1
regulation of signal transduction	1
regulation of cellular response to growth factor stimulus	1
synapse assembly	1
innervation	1
cell-cell signaling	1
synapse	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
neuron projection	1
dendritic tree	1
neuronal cell body	1
cell junction	1
cell pole	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1984 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRIT3	TRPM1	Q7Z4N2	853
LRIT3	GPR179	Q6PRD1	774
LRIT3	CACNA1F	O60840	772
LRIT3	CABP4	P57796	756
LRIT3	GRM6	O15303	723
LRIT3	SLC24A1	O60721	641
LRIT3	GNAT1	P11488	604
LRIT3	NYX	Q9GZU5	594
LRIT3	CACNA2D4	Q7Z3S7	593
LRIT3	RGS11	O94810	582
LRIT3	RGS7	P49802	576
LRIT3	CACNA1S	Q13698	562
LRIT3	PDE6B	P35913	527
LRIT3	GNB5	O14775	523
LRIT3	EGFLAM	Q63HQ2	517

IntAct

3 interactions, top by confidence:

A	B	Type	Score
LRIT3	TRAF2	psi-mi:“MI:0914”(association)	0.350
rep	DHFR	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (5): LRIT3 (Proximity Label-MS), BIRC2 (Affinity Capture-MS), TRAF2 (Affinity Capture-MS), NCDN (Affinity Capture-MS), GPR107 (Affinity Capture-MS)

ESM2 similar proteins: A0N0X6, A4IIW9, B0BLW3, B1H134, B1H234, B4F7C5, D3ZAL8, D3ZTV3, D4A7P2, E5DHB5, F1NUK7, F7D3V9, O43155, O43300, O94898, P58681, Q32Q07, Q3SXY7, Q3URE9, Q504C1, Q50L44, Q52KR2, Q5R482, Q5R6T0, Q5RDJ4, Q61809, Q66HV9, Q6RKD8, Q6UXK5, Q70AK3, Q7L985, Q80XG9, Q80ZD7, Q80ZD8, Q80ZD9, Q86VH4, Q86VH5, Q8BGA3, Q8BGT1, Q8BLU0

Diamond homologs: A3KNN3, A6H789, A6H793, A6NJW4, A8WHP9, E7FE13, F1MLX5, G5EFX6, O02678, O02833, O35367, O46378, O46379, O46542, O60938, O62702, O75093, O75094, O88279, O88280, O94813, P07359, P07585, P21793, P24014, P28654, P28675, P35858, P35859, P51884, P51885, P51886, P51888, P51890, P58874, P59034, P59035, P70186, P70389, P83286

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	270
Likely benign	136
Benign	26

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1323248	NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)	Pathogenic
1803094	NM_198506.5(LRIT3):c.59_61del (p.Leu20del)	Pathogenic
39440	NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)	Pathogenic
39441	NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs)	Pathogenic
3381802	NM_198506.5(LRIT3):c.269dup (p.Tyr90Ter)	Likely pathogenic

SpliceAI

631 predictions. Top by Δscore:

Variant	Effect	Δscore
4:109848314:CAAG:C	donor_loss	1.0000
4:109848316:AGGTA:A	donor_loss	1.0000
4:109848317:GGTA:G	donor_loss	1.0000
4:109848318:G:T	donor_loss	1.0000
4:109848319:T:A	donor_loss	1.0000
4:109851502:AGGTT:A	acceptor_gain	1.0000
4:109851503:GGTTG:G	acceptor_gain	1.0000
4:109869643:A:AG	acceptor_gain	1.0000
4:109869644:G:GG	acceptor_gain	1.0000
4:109869644:GTA:G	acceptor_gain	1.0000
4:109851498:CACTA:C	acceptor_loss	0.9900
4:109851499:ACTAG:A	acceptor_gain	0.9900
4:109851500:CTAGG:C	acceptor_loss	0.9900
4:109851501:TA:T	acceptor_loss	0.9900
4:109851502:A:AC	acceptor_loss	0.9900
4:109851503:G:GT	acceptor_loss	0.9900
4:109851503:GGTT:G	acceptor_gain	0.9900
4:109851974:TTGG:T	donor_loss	0.9900
4:109851975:TGGTA:T	donor_loss	0.9900
4:109851976:GGT:G	donor_loss	0.9900
4:109851977:GT:G	donor_loss	0.9900
4:109851978:T:TT	donor_loss	0.9900
4:109867935:T:G	donor_gain	0.9900
4:109867942:TACAG:T	donor_loss	0.9900
4:109867945:AG:A	donor_loss	0.9900
4:109867946:GG:G	donor_loss	0.9900
4:109867948:T:G	donor_loss	0.9900
4:109869639:TTCCA:T	acceptor_loss	0.9900
4:109869641:CCAGT:C	acceptor_loss	0.9900
4:109869643:A:AC	acceptor_loss	0.9900

AlphaMissense

4414 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:109867910:T:A	W287R	0.999
4:109867910:T:C	W287R	0.999
4:109867912:G:C	W287C	0.999
4:109867912:G:T	W287C	0.999
4:109869731:T:A	C328S	0.999
4:109869732:G:C	C328S	0.999
4:109867874:T:A	C275S	0.998
4:109867874:T:C	C275R	0.998
4:109867875:G:C	C275S	0.998
4:109869680:T:C	S311P	0.998
4:109869731:T:C	C328R	0.998
4:109869745:T:A	N332K	0.998
4:109869745:T:G	N332K	0.998
4:109867658:T:A	W203R	0.997
4:109867658:T:C	W203R	0.997
4:109867869:T:C	L273P	0.997
4:109867875:G:A	C275Y	0.996
4:109867876:T:G	C275W	0.996
4:109869679:G:C	W310C	0.996
4:109869679:G:T	W310C	0.996
4:109869725:T:G	Y326D	0.996
4:109869733:T:G	C328W	0.996
4:109869737:G:C	A330P	0.996
4:109869764:G:C	A339P	0.995
4:109851716:T:C	L110S	0.994
4:109867660:G:C	W203C	0.994
4:109867660:G:T	W203C	0.994
4:109867880:G:C	A277P	0.994
4:109867911:G:C	W287S	0.994
4:109851751:T:A	W122R	0.993

dbSNP variants (sampled 300 via entrez): RS10000621 (4:109847511 T>A,C), RS1000120547 (4:109846552 C>G), RS1000313073 (4:109865298 C>A), RS1000367001 (4:109865700 T>C), RS1000380582 (4:109850579 C>A,T), RS1000442588 (4:109858591 T>A), RS1000551533 (4:109871014 A>G), RS1000616683 (4:109872300 A>G,T), RS1000622020 (4:109862824 A>G), RS10006613 (4:109849109 T>C), RS10007135 (4:109858653 G>A,C), RS1000911362 (4:109863253 A>G,T), RS10011256 (4:109871751 A>G), RS1001173448 (4:109853957 G>A,C,T), RS1001189464 (4:109857428 A>G)

Disease associations

OMIM: gene MIM:615004 | disease phenotypes: MIM:615058, MIM:248200

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital stationary night blindness 1F	Strong	Autosomal recessive
congenital stationary night blindness	Supportive	Autosomal dominant

Mondo (5): congenital stationary night blindness 1F (MONDO:0014026), optic atrophy (MONDO:0003608), Stargardt disease (MONDO:0019353), inherited retinal dystrophy (MONDO:0019118), congenital stationary night blindness (MONDO:0016293)

Orphanet (3): Congenital stationary night blindness (Orphanet:215), Stargardt disease (Orphanet:827), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

9 total (10 of 9 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000486	Strabismus
HP:0000662	Nyctalopia
HP:0007642	Early-onset non-progressive night blindness
HP:0007663	Reduced visual acuity
HP:0007984	ERG: Reduced dark-adapted b-wave amplitude
HP:0011003	High myopia
HP:0011463	Childhood onset
HP:0011958	Retinal perforation
HP:0000556	Retinal dystrophy

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D058499	Retinal Dystrophies	C11.768.585.658
D000080362	Stargardt Disease	C11.270.872; C11.768.585.439.339; C16.320.290.724
C536122	Night blindness, congenital stationary (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Copper	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03772665	PHASE3	COMPLETED	Safety and Efficacy of Emixustat in Stargardt Disease
NCT05244304	PHASE3	COMPLETED	Phase 3, Randomized, Placebo-Controlled Study of Tinlarebant to Explore Safety and Efficacy in Adolescent Stargardt Disease
NCT07419334	PHASE3	RECRUITING	Study of ALK-001 on the Progression of Stargardt Disease
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
NCT02402660	PHASE2	ENROLLING_BY_INVITATION	Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease
NCT03033108	PHASE2	COMPLETED	Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease
NCT04239625	PHASE2	ACTIVE_NOT_RECRUITING	Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE)
NCT04489511	PHASE2	COMPLETED	Study of STG-001 in Subjects With Stargardt Disease
NCT05417126	PHASE2	COMPLETED	Safety and Effects of a Single Intravitreal Injection of vMCO-010 Optogenetic Therapy in Subjects With Stargardt Disease
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
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