Foveal sparing in stargardt disease
Publication year
2014Source
Investigative Ophthalmology and Visual Science, 55, 11, (2014), pp. 7467-7478ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Ophthalmology
Human Genetics
Journal title
Investigative Ophthalmology and Visual Science
Volume
vol. 55
Issue
iss. 11
Page start
p. 7467
Page end
p. 7478
Subject
Radboudumc 12: Sensory disorders RIHS: Radboud Institute for Health Sciences; Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life SciencesAbstract
PURPOSE: To provide a clinical and genetic description of a patient cohort with Stargardt disease (STGD1) with identifiable foveal sparing. METHODS: Patients with retinal atrophy (defined as an absence of autofluorescence) that surrounded the fovea by at least 180 degrees and did not include the fovea were defined as having foveal sparing; eyes with visual acuity (VA) worse than 20/200 were excluded. We reviewed the medical files and extracted data regarding medical history, VA, ophthalmoscopy, static perimetry, fundus photography, spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography (FA), fundus autofluorescence (FAF), and electroretinography (ERG). We screened each patient's ABCA4 gene for mutations. RESULTS: Seventeen eyes with foveal sparing were identified in 13 unrelated patients. In 4 eyes, the fovea gradually became atrophic after the initial foveal sparing. The mean age at onset was 51 years (range, 32-67 years). Visual acuity was 20/40 or better in all foveal sparing eyes and was 20/25 or better in 41%. Fundus autofluorescence imaging revealed hyperautofluorescent flecks and parafoveal retinal atrophy; SD-OCT revealed sharply delineated atrophy; and perimetry revealed parafoveal scotomas with intact foveal sensitivity. Finally, genetic screening identified mutations in 19 of the 26 ABCA4 gene alleles. CONCLUSIONS: Foveal sparing occurs mainly in patients with late-onset STGD1 and represents the milder end of the clinical spectrum in STGD1. The anatomy, metabolism, and biochemistry of the retina, as well as genetic variations in genes other than ABCA4, can influence the etiology of foveal sparing. Identifying these fovea-protecting factors will facilitate the future development of strategies designed to treat STGD1.
This item appears in the following Collection(s)
- Academic publications [203856]
- Electronic publications [102283]
- Faculty of Medical Sciences [80326]
- Open Access publications [70938]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.