Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

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

doi:10.1167/iovs.08-2696

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Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

Journal article

Open access

Peer reviewed

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

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

Investigative ophthalmology & visual science, Vol.50(5), pp.2368-2375

05/2009

DOI: 10.1167/iovs.08-2696

PMCID: PMC2731629

PMID: 19117922

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Abstract

To quantify the residual vision in Leber congenital amaurosis (LCA) caused by RPE65 mutations. Patients with RPE65-LCA (n = 30; ages, 4-55) were studied using electroretinography (ERG), full-field stimulus testing (FST), kinetic and static threshold perimetry, and optical coherence tomography (OCT). All patients with RPE65-LCA had abnormal ERGs even at the youngest ages. There were no detectable rod ERGs and only reduced cone ERGs. By chromatic FST, however, 59% of patients had measurable rod- and cone-mediated function. The remaining 41% had only cone-mediated function. Extent of kinetic fields varied widely in the first two decades of life but, by the end of the third decade, there was very little measurable field. Regional patterns of visual loss were evident using dark-adapted static threshold perimetry. The mildest dysfunctions showed relatively homogeneous sensitivity loss beyond the central field. Mid-peripheral dysfunction was a later feature; finally, only central and peripheral islands remained. Colocalized measures of visual function and retinal structure by OCT showed that visual function was detectable when a photoreceptor layer was detectable. Residual rod as well as cone function is detectable in RPE65-LCA. The finding of different regional patterns of visual loss in these patients suggests that the optimal retinal site(s) for subretinal gene delivery to achieve efficacy are likely to change with disease progression.

Visual Fields - physiology

Blindness - physiopathology

Humans

Middle Aged

Child, Preschool

Male

Photoreceptor Cells, Vertebrate - physiology

Young Adult

Vision Disorders - physiopathology

Adult

Female

Eye Proteins - genetics

Child

Visual Acuity - physiology

cis-trans-Isomerases

Electroretinography

Retinal Degeneration - genetics

Tomography, Optical Coherence

Dark Adaptation - physiology

Retinal Degeneration - physiopathology

Carrier Proteins - genetics

Vision Disorders - genetics

Adolescent

Visual Field Tests

Mutation

Details

Title: Subtitle: Defining the residual vision in 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
Tomas S Aleman
Artur V Cideciyan
Alejandro J Roman
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.50(5), pp.2368-2375
DOI: 10.1167/iovs.08-2696
PMID: 19117922
PMCID: PMC2731629
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 / NEI NIH HHS U10 EY017280-01 / NEI NIH HHS U10 EY017280-02 / NEI NIH HHS
Language: English
Date published: 05/2009
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979926602771

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