ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

Artur V Cideciyan; Malgorzata Swider; Tomas S Aleman; Alexander Sumaroka; Sharon B Schwartz; Marisa I Roman; Ann H Milam; Jean Bennett; Edwin M Stone; Samuel G Jacobson

doi:10.1167/iovs.05-0805

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ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

Journal article

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ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina

Artur V Cideciyan, Malgorzata Swider, Tomas S Aleman, Alexander Sumaroka, Sharon B Schwartz, Marisa I Roman, Ann H Milam, Jean Bennett, Edwin M Stone and Samuel G Jacobson

Investigative ophthalmology & visual science, Vol.46(12), pp.4739-4746

12/2005

DOI: 10.1167/iovs.05-0805

PMCID: PMC2579900

PMID: 16303974

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https://www.ncbi.nlm.nih.gov/pmc/articles/2579900View

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Abstract

To study the parapapillary retinal region in patients with ABCA4-associated retinal degenerations. Patients with Stargardt disease or cone-rod dystrophy and disease-causing variants in the ABCA4 gene were included. Fixation location was determined under fundus visualization, and central cone-mediated vision was measured. Intensity and texture abnormalities of autofluorescence (AF) images were quantified. Parapapillary retina of an eye donor with ungenotyped Stargardt disease was examined microscopically. AF images ranged from normal, to spatially homogenous abnormal increase of intensity, to a spatially heterogenous speckled pattern, to variably sized patches of low intensity. A parapapillary ring of normal-appearing AF was visible at all disease stages. Quantitative analysis of the intensity and texture properties of AF images showed the preserved region to be an annulus, at least 0.6 mm wide, surrounding the optic nerve head. A similar region of relatively preserved photoreceptor nuclei was apparent in the donor retina. In patients with foveal fixation, there was better cone sensitivity at a parapapillary locus in the nasal retina than at the same eccentricity in the temporal retina. In patients with eccentric fixation, approximately 30% had a preferred retinal locus in the parapapillary retina. Human retinal degenerations caused by ABCA4 mutations spare the structure of retina and RPE in a circular parapapillary region that commonly serves as the preferred fixation locus when central vision is lost. The retina between fovea and optic nerve head could serve as a convenient, accessible, and informative region for structural and functional studies to determine natural history or outcome of therapy in ABCA4-associated disease.

Retinal Degeneration - diagnosis

ATP-Binding Cassette Transporters - genetics

Lasers

Retinal Degeneration - genetics

Humans

Middle Aged

Female

Mutation

Ophthalmoscopy - methods

Visual Acuity

Retina - pathology

Optic Disk - pathology

Details

Title: Subtitle: ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina
Creators: Artur V Cideciyan - Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. cideciya@mail.med.upenn.edu
Malgorzata Swider
Tomas S Aleman
Alexander Sumaroka
Sharon B Schwartz
Marisa I Roman
Ann H Milam
Jean Bennett
Edwin M Stone
Samuel G Jacobson
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.46(12), pp.4739-4746
DOI: 10.1167/iovs.05-0805
PMID: 16303974
PMCID: PMC2579900
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: R01 EY013203-03 / NEI NIH HHS R01 EY013203-04 / NEI NIH HHS EY-13385 / NEI NIH HHS R01 EY013203 / NEI NIH HHS R01 EY013203-05 / NEI NIH HHS R01 EY013203-06 / NEI NIH HHS R01 EY013203-07 / NEI NIH HHS EY-10820 / NEI NIH HHS EY-12156 / NEI NIH HHS EY-13729 / NEI NIH HHS R01 EY013203-01 / NEI NIH HHS R01 EY013203-02 / NEI NIH HHS
Language: English
Date published: 12/2005
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980019302771

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