Journal
AMERICAN JOURNAL OF OPHTHALMOLOGY
Volume 156, Issue 3, Pages 487-501Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ajo.2013.05.003
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Funding
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust
- University College London, Institute of Ophthalmology (London, United Kingdom)
- Fight For Sight (London, United Kingdom)
- Moorfields Eye Hospital Special Trustees (London, United Kingdom)
- Macular Disease Society (London, United Kingdom)
- Foundation Fighting Blindness (Columbia, Maryland, USA)
- Suzuken Memorial Foundation (Nagoya, Aichi, Japan)
- Mitsukoshi Health and Welfare Foundation (Tokyo, Japan)
- Daiwa Anglo-Japanese Foundation (Tokyo, Japan)
- Ministry of Education, Culture, Sports, Science and Technology (Tokyo, Japan)
- Grants-in-Aid for Scientific Research [23592601] Funding Source: KAKEN
- National Institute for Health Research [NF-SI-0507-10204] Funding Source: researchfish
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PURPOSE: To describe a cohort of patients with Stargardt disease who show a foveal-sparing phenotype. DESIGN: Retrospective case series. METHODS: The foveal-sparing phenotype was defined as foveal preservation on autofluorescence imaging, despite a retinopathy otherwise consistent with Stargardt disease. Forty such individuals were ascertained and a full ophthalmic examination was undertaken. Following mutation screening of ABCA4, the molecular findings were compared with those of patients with Stargardt disease but no foveal sparing. RESULTS: The median age of onset and age at examination of 40 patients with the foveal-sparing phenotype were 43.5 and 46.5 years. The median logMAR visual acuity was 0.18. Twenty-two patients (22/40, 55%) had patchy parafoveal atrophy and flecks; 8 (20%) had numerous flecks at the posterior pole without atrophy; 7 (17.5%) had mottled retinal pigment epithelial changes; 2 (5%) had multiple atrophic lesions, extending beyond the arcades; and 1 (2.5%) had a bull's-eye appearance. The median central foveal thickness assessed with spectral-domain optical coherence tomographic images was 183.0 mu m (n = 33), with outer retinal tubulation observed in 15 (45%). Twenty-two of 33 subjects (67%) had electrophysiological evidence of macular dysfunction without generalized retinal dysfunction. Disease-causing variants were found in 31 patients (31/40, 78%). There was a higher prevalence of the variant p.Arg2030Gln in the cohort with foveal sparing compared to the group with foveal atrophy (6.45% vs 1.07%). CONCLUSIONS: The distinct clinical and molecular characteristics of patients with the foveal-sparing phenotype are described. The presence of 2 distinct phenotypes of Stargardt disease (foveal sparing and foveal atrophy) suggests that there may be more than 1 disease mechanism in ABCA4 retinopathy. ((C) 2013 by Elsevier Inc. All rights reserved.)
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