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Article

Biallelic occult macular dystrophy.

Ophthalmic genetics - 1 Aug 2024

Ghali Noor, Khan Arif O

Abstract excerpt

PURPOSE: Occult macular dystrophy (OMD) is a cause of visual loss in young adults with a grossly normal fundus appearance. It is considered an autosomal dominant disorder, related to heterozygous pathogenic variants in the gene RP1L1. The purpose of this study is to report a biallelic form of the disease. RESULTS: A 29-year-old female had undergone neurological workup and ophthalmic examinations for transient...

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Source

Identifiers

PMID: 38831741
DOI: 10.1080/13816810.2024.2352376

Genes

OMD
RP1L1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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