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Reference

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

Disease

BEST1-related recessive retinopathy

MONDO:0700239Mondo

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Findings

No curated finding names BEST1-related recessive retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any retinopathy caused by bi-allelic variants in the BEST1 gene.

Definition from the Mondo Disease Ontology (MONDO:0700239), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (1): autosomal recessive bestrophinopathy