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Article

Evaluation of genotype-phenotype associations in leber congenital amaurosis.

Retina (Philadelphia, Pa.) - 1 Jan 2000

Galvin Jennifer A, Fishman Gerald A, Stone Edwin M, Koenekoop Robert K

Abstract excerpt

PURPOSE: To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis (LCA). METHODS: One hundred ten LCA patients were screened for various probable disease-causing gene sequence variations. Those patients with a probable disease-causing sequence variation in one of six genotypes were recalled for a follow-up examination. Evaluations included assessment of...

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Identifiers

PMID: 16205573
DOI: 10.1097/00006982-200510000-00016

Genes

AIPL1
RPE65
CRB1
RPGRIP1
CRX

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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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