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Article

Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis.

Ophthalmic genetics - 1 Feb 2020

Dikkaya Funda, Seyhan Serhat, Erdur Sevil Karaman, Şentürk Fevzi, Aras Cengiz

Abstract excerpt

Background: Leber congenital amaurosis (LCA) is both genetically and phenotypically heterogeneous group of retinal disorder. Mutations in retinal degeneration 3 (RD3) have been reported as an infrequent cause of LCA which account for less than 1% of all known LCA cases. This case report provides Optical Coherence Tomography (OCT) and Fundus Autofluorescence (FAF) findings of an infant with LCA related to a...

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Identifiers

PMID: 32083505
DOI: 10.1080/13816810.2020.1731837

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