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A reference for what the literature reports. Not medical advice.

Disease

CACNA1F-related retinopathy

MONDO:0700243Mondo

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Findings

No curated finding names CACNA1F-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any retinopathy caused by a variant in the CACNA1F gene.

Definition from the Mondo Disease Ontology (MONDO:0700243), read 2026-09-29. CC BY 4.0.

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

CACNA1FHGNC:1393
- Definitive · ClinGen · X-linked · 2023

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (3): Aland island eye disease
congenital stationary night blindness 2A
X-linked cone-rod dystrophy 3