Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Ophthalmology. 2007 May;114(5):895-8. Epub 2007 Feb 16.

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

Author information

  • 1Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. jacobsos@mail.med.upenn.edu

Abstract

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 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.

MAIN OUTCOME MEASURE:

Optical coherence tomography results.

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.

CONCLUSIONS:

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.

PMID:
17306875
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk