Article
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Feb 2005
Klevering B Jeroen, Deutman August F, Maugeri Alessandra, Cremers Frans P M, Hoyng Carel B
Abstract excerpt
BACKGROUND: The majority of studies on the retina-specific ATP-binding cassette transporter (ABCA4) gene have focussed on molecular genetic analysis; comparatively few studies have described the clinical aspects of ABCA4-associated retinal disorders. In this study, we demonstrate the spectrum of retinal dystrophies associated with ABCA4 gene mutations. METHODS: Nine well-documented patients representing distinct...
Topics
- ATP-Binding Cassette Transporters
- Adolescent
- Adult
- Age of Onset
- Aged
- Child
- DNA Mutational Analysis
- Electroretinography
- Female
- Fluorescein Angiography