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Article

Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.

Ophthalmic genetics - 1 Dec 2022

Aleman Tomas S, O'Neil Erin C, Uyhazi Katherine E, Parchinski Kelsey M, Santos Arlene J, Weber Mariejel L, Colclough Sherice P, Billek Andrew S, Zhu Xiaosong, Leroy Bart P, Bedoukian Emma C

Abstract excerpt

PURPOSE: To provide a detailed ophthalmic phenotype of a small cohort of patients with Leber Congenital Amaurosis (LCA) caused by mutations in CEP290 (CEP290-LCA) with a focus on elucidating the origin of yellow-white lesions observed in 30% of patients with this condition. METHODS: This is a retrospective review of records of five patients with CEP290-LCA. Patients had comprehensive ophthalmic evaluations....

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Identifiers

PMID: 36469661
DOI: 10.1080/13816810.2022.2147960

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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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