Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

Samuel G Jacobson; Artur V Cideciyan; Tomas S Aleman; Alexander Sumaroka; Elizabeth A M Windsor; Sharon B Schwartz; Elise Heon; Edwin M Stone

doi:10.1167/iovs.08-2121

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Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

Journal article

Open access

Peer reviewed

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

Samuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, Alexander Sumaroka, Elizabeth A M Windsor, Sharon B Schwartz, Elise Heon and Edwin M Stone

Investigative ophthalmology & visual science, Vol.49(10), pp.4573-4577

10/2008

DOI: 10.1167/iovs.08-2121

PMCID: PMC2731624

PMID: 18539930

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https://www.ncbi.nlm.nih.gov/pmc/articles/2731624View

Open Access

Abstract

To study the topography of photoreceptor loss early in the course of Leber congenital amaurosis (LCA) caused by RPE65 mutations. Young patients with RPE65-LCA (n = 9; ages, 6-17 years) were studied with optical coherence tomography (OCT) in a wide region of central retina. Outer nuclear layer (ONL) thickness was mapped topographically and compared with that in normal subjects and in older patients with RPE65-LCA. Photoreceptor layer topography was abnormal in all young patients with RPE65-LCA. Foveal and extrafoveal ONL was reduced in most patients. There were interindividual differences, with ONL thicknesses at most retinal locations ranging from near the detectability limit to a significant fraction of normal. These differences were not clearly related to age. In most patients, there was a thinner ONL inferior to the fovea compared with that in the superior retina. Summary maps obtained by aligning and averaging photoreceptor topography across all young patients showed a relative preservation of ONL in the superior-temporal and temporal pericentral retina. These retinal regions also showed the greatest magnitude of interindividual variation. Photoreceptor loss in the foveal and extrafoveal retina was prominent, even in the youngest patients studied. Differences in the topography of residual photoreceptors in children with RPE65-LCA suggest that it may be advisable to use individualized ONL mapping to guide the location of subretinal injections for gene therapy and thereby maximize the potential for efficacy.

Genetic Therapy

Retinal Degeneration - diagnosis

Retinal Degeneration - genetics

Tomography, Optical Coherence

Blindness - diagnosis

Humans

Blindness - genetics

Retinal Ganglion Cells - pathology

Carrier Proteins - genetics

Retinal Degeneration - therapy

Adolescent

Adult

Blindness - therapy

Eye Proteins - genetics

Mutation

Child

Photoreceptor Cells, Vertebrate - pathology

cis-trans-Isomerases

Details

Title: Subtitle: Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations
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
Elizabeth A M Windsor
Sharon B Schwartz
Elise Heon
Edwin M Stone
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.49(10), pp.4573-4577
DOI: 10.1167/iovs.08-2121
PMID: 18539930
PMCID: PMC2731624
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: U10 EY017280-03 / NEI NIH HHS U10 EY017280 / NEI NIH HHS U10 EY017280-01 / NEI NIH HHS U10 EY017280-02 / NEI NIH HHS
Language: English
Date published: 10/2008
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979902802771

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