Article
Clinical and genetic characteristics of late-onset Stargardt's disease.
Ophthalmology - 1 Jun 2012
Westeneng-van Haaften Sarah C, Boon Camiel J F, Cremers Frans P M, Hoefsloot Lies H, den Hollander Anneke I, Hoyng Carel B
Abstract excerpt
OBJECTIVE: To describe the genotype and phenotype of patients with a late-onset Stargardt's disease (STGD1). DESIGN: Retrospective case series. PARTICIPANTS: Twenty-one unrelated STGD1 patients with an age at onset of ≥45 years and ≥1 rare variant in the ABCA4 gene. METHODS: Ophthalmologic examination, including best-corrected visual acuity (VA), Amsler grid testing, fundus photography, fluorescein angiography...
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