FMC1

Summary

FMC1 (formation of mitochondrial complex V assembly factor 1, HGNC:26946) is a protein-coding gene on chromosome 7q34, encoding Protein FMC1 homolog (Q96HJ9). Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V).

Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion.

Source: NCBI Gene 154791 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 1 total — 1 likely-pathogenic
• MANE Select transcript: NM_197964

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26946
Approved symbol	FMC1
Name	formation of mitochondrial complex V assembly factor 1
Location	7q34
Locus type	gene with protein product
Status	Approved
Aliases	HSPC268
Ensembl gene	ENSG00000164898
Ensembl biotype	protein_coding
OMIM	620766
Entrez	154791

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000297534, ENST00000468383, ENST00000481123, ENST00000482181, ENST00000488886

RefSeq mRNA: 1 — MANE Select: NM_197964 NM_197964

CCDS: CCDS5853

Canonical transcript exons

ENST00000297534 — 2 exons

Exon	Start	End
ENSE00001636858	139341337	139341522
ENSE00001929279	139345501	139346328

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 98.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.4772 / max 100.5920, expressed in 1224 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81444	17.0956	1808
81440	1.2169	619
81443	0.9811	628
81439	0.2791	144

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.42	gold quality
right testis	UBERON:0004534	98.15	gold quality
testis	UBERON:0000473	97.31	gold quality
apex of heart	UBERON:0002098	96.17	gold quality
gastrocnemius	UBERON:0001388	94.88	gold quality
skeletal muscle tissue	UBERON:0001134	94.84	gold quality
heart left ventricle	UBERON:0002084	94.74	gold quality
muscle of leg	UBERON:0001383	94.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.74	gold quality
right atrium auricular region	UBERON:0006631	93.44	gold quality
heart	UBERON:0000948	93.31	gold quality
pituitary gland	UBERON:0000007	92.96	gold quality
adenohypophysis	UBERON:0002196	92.95	gold quality
right lobe of liver	UBERON:0001114	92.79	gold quality
substantia nigra	UBERON:0002038	92.05	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.94	gold quality
putamen	UBERON:0001874	91.66	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.66	gold quality
right adrenal gland	UBERON:0001233	91.60	gold quality
lower esophagus	UBERON:0013473	91.59	gold quality
right adrenal gland cortex	UBERON:0035827	91.59	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.50	gold quality
left lobe of thyroid gland	UBERON:0001120	91.39	gold quality
left adrenal gland cortex	UBERON:0035825	91.25	gold quality
left adrenal gland	UBERON:0001234	91.23	gold quality
adult mammalian kidney	UBERON:0000082	91.20	gold quality
fundus of stomach	UBERON:0001160	91.17	gold quality
caudate nucleus	UBERON:0001873	91.10	gold quality
hypothalamus	UBERON:0001898	91.10	gold quality
amygdala	UBERON:0001876	91.03	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	30.90
E-ANND-3	yes	16.95
E-MTAB-6524	no	88.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting FMC1, 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-3163	100.00	77.23	8605
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-6080	99.43	69.43	373
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-628-3P	99.04	68.37	814
HSA-MIR-1909-5P	98.94	64.01	484
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-4511	98.32	67.97	1500

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch1073-314i13.4	ENSDARG00000074266
mus_musculus	Fmc1	ENSMUSG00000019689
rattus_norvegicus	Fmc1	ENSRNOG00000005618
drosophila_melanogaster	CG34117	FBGN0083953
caenorhabditis_elegans		WBGENE00016209

Protein

Protein identifiers

Protein FMC1 homolog — Q96HJ9 (reviewed: Q96HJ9)

Alternative names: ATP synthase assembly factor FMC1, mitochondrial, Formation of mitochondrial complex V assembly factor 1 homolog

All UniProt accessions (1): Q96HJ9

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V).

Subunit / interactions. Interacts with ATPAF2.

Subcellular location. Mitochondrion.

Similarity. Belongs to the FMC1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96HJ9-1	1	yes
Q96HJ9-2	2

RefSeq proteins (1): NP_932068* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037667	FMC1_homologue	Family

Pfam: PF13233

UniProt features (4 total): chain 1, region of interest 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HJ9-F1	86.24	0.57

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): GOBP_BEHAVIOR, TGCGCANK_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_LIPID_METABOLIC_PROCESS, WHN_B, GOBP_NEGATIVE_REGULATION_OF_LIPID_CATABOLIC_PROCESS, GOBP_DOPAMINERGIC_NEURON_DIFFERENTIATION

GO Biological Process (8): apoptotic mitochondrial changes (GO:0008637), response to toxic substance (GO:0009636), mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615), negative regulation of lipid catabolic process (GO:0050995), regulation of type B pancreatic cell proliferation (GO:0061469), motor behavior (GO:0061744), dopaminergic neuron differentiation (GO:0071542), mitochondrion organization (GO:0007005)

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

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic process	1
mitochondrion organization	1
response to chemical	1
mitochondrion	1
mitochondrial respiratory chain complex assembly	1
proton-transporting ATP synthase complex assembly	1
negative regulation of catabolic process	1
lipid catabolic process	1
negative regulation of lipid metabolic process	1
regulation of lipid catabolic process	1
type B pancreatic cell proliferation	1
regulation of epithelial cell proliferation	1
behavior	1
neuron differentiation	1
organelle organization	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

808 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FMC1	LYRM9	A8MSI8	601
FMC1	LYRM1	O43325	582
FMC1	LYRM2	Q9NU23	580
FMC1	ETFRF1	Q6IPR1	578
FMC1	SDHAF1	A6NFY7	526
FMC1	LYRM7	Q5U5X0	507
FMC1	SDHAF3	Q9NRP4	449
FMC1	CLEC2L	P0C7M8	446
FMC1	LYRM4	Q9HD34	431
FMC1	KLRG2	A4D1S0	419
FMC1	UBN2	Q6ZU65	377
FMC1	NDUFB9	Q9Y6M9	370
FMC1	IFT56	A0AVF1	370
FMC1	TMEM186	Q96B77	358
FMC1	TRMT5	Q32P41	347
FMC1	TIMM29	Q9BSF4	347

IntAct

43 interactions, top by confidence:

A	B	Type	Score
DLD	PDHX	psi-mi:“MI:0914”(association)	0.880
GRPEL2	DBT	psi-mi:“MI:0914”(association)	0.710
FECH	PGRMC1	psi-mi:“MI:0914”(association)	0.700
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
COX4I1	DBT	psi-mi:“MI:0914”(association)	0.560
ATPAF2	NDUFAB1	psi-mi:“MI:0914”(association)	0.530
OXLD1	NUDT19	psi-mi:“MI:0914”(association)	0.350
SLC1A1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
FECH	PGRMC1	psi-mi:“MI:0914”(association)	0.350
LIG3	NDUFS6	psi-mi:“MI:0914”(association)	0.350
SSH3	HSPA8	psi-mi:“MI:0914”(association)	0.350
ATP5F1A	PMPCB	psi-mi:“MI:0914”(association)	0.350
FMC1	NDUFAB1	psi-mi:“MI:0914”(association)	0.350
ATP5F1A	NRDC	psi-mi:“MI:0914”(association)	0.350
FMC1	DNM1L	psi-mi:“MI:0914”(association)	0.350
FMC1	POLRMT	psi-mi:“MI:0914”(association)	0.350
RPS6KB2	SRSF1	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
S100A6	VWA8	psi-mi:“MI:0914”(association)	0.350
ABHD10	VWA8	psi-mi:“MI:0914”(association)	0.350
CALML3	MYO1C	psi-mi:“MI:0914”(association)	0.350
MTRF1	MEIS1	psi-mi:“MI:0914”(association)	0.350
OXLD1	PRORP	psi-mi:“MI:0914”(association)	0.350
GIP	GNPAT	psi-mi:“MI:0914”(association)	0.350

BioGRID (96): C7orf55 (Affinity Capture-MS), C7orf55 (Affinity Capture-MS), C7orf55 (Affinity Capture-MS), C7orf55 (Affinity Capture-MS), C7orf55 (Affinity Capture-MS), C7orf55-LUC7L2 (Affinity Capture-MS), ATPAF2 (Affinity Capture-MS), MRPL57 (Affinity Capture-MS), C7orf55-LUC7L2 (Affinity Capture-MS), NT5DC2 (Affinity Capture-MS), CYCS (Affinity Capture-MS), CLPX (Affinity Capture-MS), POLDIP2 (Affinity Capture-MS), SLC25A51 (Affinity Capture-MS), MRPL46 (Affinity Capture-MS)

ESM2 similar proteins: A3KNJ8, A3LNG8, A5DH70, A5DY61, A6S5Q0, A7EDS9, A7S1A4, A7S1H9, A7TI92, A9UL63, A9UMQ3, B5FXA0, B5FYC7, B5X5U9, B5XCZ6, B8JLQ0, B9WD12, C4R7H7, C4Y4R9, C5DEI4, C5DR94, C5MJD6, C7ZKY9, C9SBR9, D1Z4E1, G2TRM0, G2TRP8, O43325, O60068, P82116, Q04401, Q0UIG9, Q503U1, Q54F42, Q5A7N3, Q6BQH4, Q6CHK8, Q6CTI7, Q6CUY0, Q6FMR7

Diamond homologs: A7S1A4, A9UL63, Q3SZA2, Q4G012, Q8MNU8, Q96HJ9, Q9CR13

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitochondrial protein degradation	6	18.0×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2503066	NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)	Likely pathogenic

SpliceAI

358 predictions. Top by Δscore:

Variant	Effect	Δscore
7:139341521:GG:G	donor_gain	1.0000
7:139341522:GG:G	donor_gain	1.0000
7:139341523:G:GA	donor_loss	1.0000
7:139345620:GG:G	donor_gain	1.0000
7:139345621:GG:G	donor_gain	1.0000
7:139341523:G:GG	donor_gain	0.9900
7:139345659:TCTC:T	donor_gain	0.9900
7:139341505:GCTT:G	donor_gain	0.9800
7:139345496:TCTA:T	acceptor_loss	0.9800
7:139345498:TA:T	acceptor_loss	0.9800
7:139345499:AGGT:A	acceptor_loss	0.9800
7:139345606:G:GT	donor_gain	0.9800
7:139341519:TCGG:T	donor_gain	0.9700
7:139345634:TGGAG:T	donor_gain	0.9700
7:139345635:GGAGG:G	donor_gain	0.9700
7:139341501:G:GT	donor_gain	0.9600
7:139345617:C:T	donor_gain	0.9600
7:139345686:G:T	donor_gain	0.9600
7:139345761:A:AG	donor_gain	0.9500
7:139341567:G:GT	donor_gain	0.9400
7:139345498:TAGG:T	acceptor_gain	0.9400
7:139345499:A:AG	acceptor_gain	0.9400
7:139345500:G:GG	acceptor_gain	0.9400
7:139345740:A:T	donor_gain	0.9400
7:139341563:G:GT	donor_gain	0.9300
7:139341518:ATCGG:A	donor_gain	0.9200
7:139341528:G:GT	donor_gain	0.9200
7:139345497:CTAGG:C	acceptor_gain	0.9200
7:139341564:G:T	donor_gain	0.9100
7:139345499:AGG:A	acceptor_gain	0.9000

AlphaMissense

709 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:139345549:G:C	A63P	0.980
7:139345568:T:C	L69P	0.968
7:139345609:T:C	F83L	0.964
7:139345611:T:A	F83L	0.964
7:139345611:T:G	F83L	0.964
7:139345576:A:C	S72R	0.961
7:139345578:C:A	S72R	0.961
7:139345578:C:G	S72R	0.961
7:139341508:T:C	F42L	0.956
7:139341510:C:A	F42L	0.956
7:139341510:C:G	F42L	0.956
7:139345646:C:A	A95D	0.955
7:139345558:T:G	Y66D	0.949
7:139345550:C:A	A63D	0.945
7:139345583:G:C	R74P	0.935
7:139341433:G:A	E17K	0.932
7:139345543:T:C	F61L	0.926
7:139345545:C:A	F61L	0.926
7:139345545:C:G	F61L	0.926
7:139345519:T:C	C53R	0.925
7:139345571:T:C	L70P	0.921
7:139345661:T:C	L100P	0.916
7:139345505:C:T	T48I	0.915
7:139345521:C:G	C53W	0.910
7:139345598:T:C	L79P	0.910
7:139341425:T:A	L14H	0.907
7:139341425:T:C	L14P	0.907
7:139345520:G:A	C53Y	0.907
7:139345577:G:T	S72I	0.903
7:139345645:G:C	A95P	0.902

dbSNP variants (sampled 300 via entrez): RS1000087403 (7:139339108 C>T), RS1000174566 (7:139339878 G>A), RS1000404486 (7:139345066 C>T), RS1000585773 (7:139342477 T>TG), RS1000614876 (7:139340084 T>C), RS1000737181 (7:139344804 G>A), RS1001216087 (7:139338730 A>G), RS1001705626 (7:139340270 G>A,T), RS1001777698 (7:139340457 C>A), RS1001826239 (7:139343467 T>C), RS1001918871 (7:139345606 G>C), RS1002427465 (7:139341923 C>A), RS1002782368 (7:139341089 C>G,T), RS1002947813 (7:139346819 T>C), RS1003390611 (7:139340755 C>G,T)

Disease associations

OMIM: gene MIM:620766 | disease phenotypes: MIM:276900

GenCC curated gene-disease

Mondo (1): Usher syndrome (MONDO:0019501)

Orphanet (1): Usher syndrome (Orphanet:886)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002875_124	Diisocyanate-induced asthma	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D052245	Usher Syndromes	C09.218.458.341.186.500.500; C09.218.458.341.887.886; C10.597.751.418.341.186.500.500; C10.597.751.418.341.887.886; C10.597.751.941.162.625.500; C11.768.585.658.500.813; C11.966.075.375.500; C16.131.077.299.500; C16.320.290.684.500; C23.888.592.763.393.341.887.886

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	5
trichostatin A	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
FR900359	affects phosphorylation	1
beauvericin	affects cotreatment, increases expression	1
bafilomycin A1	decreases expression, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
enniatins	affects cotreatment, increases expression	1
entinostat	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Carbonyl Cyanide m-Chlorophenyl Hydrazone	decreases expression, decreases reaction	1
Cisplatin	decreases expression	1
Estradiol	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydrogen Peroxide	affects expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Quercetin	decreases expression	1
Rotenone	increases expression, increases reaction, decreases expression	1
Tobacco Smoke Pollution	increases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	affects cotreatment, decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B5JR	HAP1 C7orf55 (-) 2	Cancer cell line	Male
CVCL_XM39	HAP1 C7orf55 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT02065011	PHASE2	ACTIVE_NOT_RECRUITING	A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B
NCT01505062	PHASE1/PHASE2	TERMINATED	Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
NCT04355689	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
NCT06789445	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT00004345	Not specified	TERMINATED	Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
NCT00016471	Not specified	COMPLETED	A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
NCT00106743	Not specified	COMPLETED	Natural History and Genetic Studies of Usher Syndrome
NCT01954953	Not specified	UNKNOWN	Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT03319524	Not specified	COMPLETED	Clinical and Genetic Testing of Patients With Usher Syndrome
NCT03901391	Not specified	COMPLETED	Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
NCT03990727	Not specified	UNKNOWN	Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
NCT04665726	Not specified	RECRUITING	Natural History Study of Usher Syndrome ( Light4Deaf )
NCT04906135	Not specified	COMPLETED	Auditory Neural Function in Implanted Patients With Usher Syndrome
NCT05355415	Not specified	RECRUITING	Adaptive Optics Imaging of Outer Retinal Diseases
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