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A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.

Ophthalmic genetics - 1 Dec 2025

Farooqui Saadia Z, Quinodoz Mathieu, Tan Tien-En, Tang Rachael W C, Chan Choi Mun, Mathur Ranjana, Chen Li Yu, Poh Joey S Z, Chia Audrey W L, Bylstra Yasmin, Lim Weng Khong, Rivolta Carlo, Fenner Beau J

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA) and early-onset severe retinal degeneration (EOSRD) are inherited retinal diseases (IRDs) characterized by visual impairment beginning in infancy or childhood. This study aimed to describe the clinical and genetic characteristics of the first prospectively enrolled Singaporean patient cohort with disease-causing variants in genes associated with LCA, EOSRD, or related...

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Source

Identifiers

PMID: 40858513
DOI: 10.1080/13816810.2025.2550693

Genes

CEP290
CRB1
NMNAT1
RDH12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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