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Article

Leber congenital amaurosis caused by mutations in RPGRIP1.

Cold Spring Harbor perspectives in medicine - 20 Nov 2014

Li Tiansen

Abstract excerpt

Recessive null mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene are the cause of LCA6 and account for 5% to 6% of the total patient population. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. As a result, patients lose retinal functions at an early age but retain...

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Identifiers

PMID: 25414380
DOI: 10.1101/cshperspect.a017384
PMCID: PMC4382728

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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Leber congenital amaurosis caused by mutations in RPGRIP1.PMID 25414380Read ↗

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Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.Semantic proximity Read ↗

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