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Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

American journal of ophthalmology - 1 Oct 2024

Daich Varela Malena, Jeste Mrunmayi, de Guimaraes Thales A C, Mahroo Omar A, Arno Gavin, Webster Andrew R, Michaelides Michel

Abstract excerpt

PURPOSE: To present the clinical characteristics, retinal features, natural history, and genetics of RPGRIP1-associated early-onset severe retinal dystrophy (EOSRD)/Leber congenital amaurosis (LCA). DESIGN: Retrospective case series. METHODS: Review of clinical notes, multimodal retinal imaging, and molecular diagnosis of 18 patients (17 families) with EOSRD/LCA and disease-causing variants in RPGRIP1. RESULTS:...

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Identifiers

PMID: 38768745
DOI: 10.1016/j.ajo.2024.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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