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Article

A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.

Klinische Monatsblatter fur Augenheilkunde - 1 Apr 2016

Abouzeid H, Othman I S, Schorderet D F

Abstract excerpt

BACKGROUND: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital amaurosis and cone-rod dystrophy. PATIENT AND METHODS: We analysed a consanguineous family from Egypt in which one individual, a four-year-old girl, was affected...

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Source

Identifiers

PMID: 27116508
DOI: 10.1055/s-0041-111815

Genes

RPGRIP1

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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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