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Article

Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.

Experimental eye research - 1 Dec 2019

Kondkar Altaf A, Abu-Amero Khaled K

Abstract excerpt

Retinal dystrophies are one of the leading causes of pediatric congenital blindness. Leber's congenital amaurosis (LCA) encompasses one of the most severe forms of inherited retinal dystrophy responsible for early-onset childhood blindness in infancy. These are clinically characterized by nystagmus, amaurotic pupil response and markedly reduced or in most instances completely absent full-field electroretinogram....

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PMID: 31639339
DOI: 10.1016/j.exer.2019.107834

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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