Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

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

doi:10.1016/j.ophtha.2006.10.028

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Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

Journal article

Peer reviewed

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

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

Ophthalmology (Rochester, Minn.), Vol.114(5), pp.895-898

05/2007

DOI: 10.1016/j.ophtha.2006.10.028

PMID: 17306875

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Abstract

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. Case report of a rare genetic eye disease investigated for intervention potential. A 19-year-old man with LCA. We studied the retinal structure and function in an LCA patient with a novel homozygous Val1211Glu mutation in the RPGRIP1 gene using optical coherence tomography and colocalized dark-adapted thresholds. Optical coherence tomography results. Central retinal laminar architecture was preserved, and there was a measurable outer nuclear layer. The retained retinal structure corresponded to the region of visual sensitivity. With increasing eccentricity, there was no measurable visual function, and retinal laminar disorganization suggested a remodeling process. The RPGRIP1-LCA patient has treatment potential for a gene replacement strategy if targeted to central, but not pericentral or peripheral, retina. The results differ from similarly studied RPE65-LCA and CRB1-LCA patients. Preclinical progress toward therapy in LCA patients warrants detailed structure-function studies in humans to determine feasibility and candidacy for clinical trials.

Proteins - genetics

Genetic Therapy

Tomography, Optical Coherence

Blindness - diagnosis

Humans

Adult

Male

Blindness - congenital

Mutation

Visual Acuity

Retina - pathology

Blindness - genetics

Details

Title: Subtitle: Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential
Creators: Samuel G Jacobson - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. jacobsos@mail.med.upenn.edu
Artur V Cideciyan
Tomas S Aleman
Alexander Sumaroka
Sharon B Schwartz
Alejandro J Roman
Edwin M Stone
Resource Type: Journal article
Publication Details: Ophthalmology (Rochester, Minn.), Vol.114(5), pp.895-898
DOI: 10.1016/j.ophtha.2006.10.028
PMID: 17306875
NLM abbreviation: Ophthalmology
ISSN: 0161-6420
eISSN: 1549-4713
Publisher: United States
Language: English
Date published: 05/2007
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980385602771

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