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Article

The RPGRIP1-related retinal phenotype in children.

The British journal of ophthalmology - 1 Jun 2013

Khan Arif O, Abu-Safieh Leen, Eisenberger Tobias, Bolz Hanno J, Alkuraya Fowzan S

Abstract excerpt

AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy. METHODS: This was a retrospective case series analysis. RESULTS: Nine children (seven families) with...

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Source

Identifiers

PMID: 23505306
DOI: 10.1136/bjophthalmol-2012-303050

Genes

RPGRIP1

Provenance

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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