Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

Wei Chieh Huang; Artur V Cideciyan; Alejandro J Roman; Alexander Sumaroka; Rebecca Sheplock; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson

doi:10.1167/iovs.13-13768

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Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

Journal article

Open access

Peer reviewed

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations

Wei Chieh Huang, Artur V Cideciyan, Alejandro J Roman, Alexander Sumaroka, Rebecca Sheplock, Sharon B Schwartz, Edwin M Stone and Samuel G Jacobson

Investigative ophthalmology & visual science, Vol.55(3), pp.1810-1822

03/20/2014

DOI: 10.1167/iovs.13-13768

PMCID: PMC3968929

PMID: 24550365

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Abstract

To investigate in vivo inner and outer retinal microstructure and effects of structural abnormalities on visual function in patients with retinal degeneration caused by ABCA4 mutations (ABCA4-RD). Patients with ABCA4-RD (n = 45; age range, 9-71 years) were studied by spectral-domain optical coherence tomography (OCT) scans extending from the fovea to 30° eccentricity along horizontal and vertical meridians. Thicknesses of outer and inner retinal laminae were analyzed. Serial OCT measurements available over a mean period of 4 years (range, 2-8 years) allowed examination of the progression of outer and inner retinal changes. A subset of patients had dark-adapted chromatic static threshold perimetry. There was a spectrum of photoreceptor layer thickness changes from localized central retinal abnormalities to extensive thinning across central and near midperipheral retina. The inner retina also showed changes. There was thickening of the inner nuclear layer (INL) that was mainly associated with regions of photoreceptor loss. Serial data documented only limited change in some patients while others showed an increase in outer nuclear layer (ONL) thinning accompanied by increased INL thickening in some regions imaged. Visual function in regions both with and without INL thickening was describable with a previously defined model based on photoreceptor quantum catch. Inner retinal laminar abnormalities, as in other human photoreceptor diseases, can be a feature of ABCA4-RD. These changes are likely due to the retinal remodeling that accompanies photoreceptor loss. Rod photoreceptor-mediated visual loss in retinal regionswith inner laminopathy at the stages studied did not exceed the prediction from photoreceptor loss alone.

Retinal Degeneration - genetics

Tomography, Optical Coherence

Humans

Middle Aged

Male

Retinal Photoreceptor Cell Outer Segment - pathology

Retinal Degeneration - metabolism

DNA - genetics

Young Adult

ATP-Binding Cassette Transporters - genetics

DNA Mutational Analysis

Adolescent

ATP-Binding Cassette Transporters - metabolism

Retinal Photoreceptor Cell Inner Segment - pathology

Adult

Female

Aged

Mutation

Retinal Degeneration - pathology

Child

Details

Title: Subtitle: Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations
Creators: Wei Chieh Huang - Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
Artur V Cideciyan
Alejandro J Roman
Alexander Sumaroka
Rebecca Sheplock
Sharon B Schwartz
Edwin M Stone
Samuel G Jacobson
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.55(3), pp.1810-1822
DOI: 10.1167/iovs.13-13768
PMID: 24550365
PMCID: PMC3968929
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: R01 EY013203 / NEI NIH HHS EY 013203 / NEI NIH HHS
Language: English
Date published: 03/20/2014
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979993202771

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