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Article

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

Ophthalmology - 1 May 2007

Jacobson Samuel G, Cideciyan Artur V, Aleman Tomas S, Sumaroka Alexander, Schwartz Sharon B, Roman Alejandro J, Stone Edwin M

Abstract excerpt

PURPOSE: To determine the treatment potential in Leber congenital amaurosis (LCA) resulting from an RPGRIP1 (retinitis pigmentosa GTPase regulating-interacting protein 1) mutation, a form of LCA with recent gene therapy success in an animal model. DESIGN: Case report of a rare genetic eye disease investigated for intervention potential. PARTICIPANTS: A 19-year-old man with LCA. METHODS: We studied the retinal...

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Source

Identifiers

PMID: 17306875
DOI: 10.1016/j.ophtha.2006.10.028

Genes

RPGRIP1
CRB1
RPE65

Provenance

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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