Journal article
Autosomal Dominant Stargardt-Like Macular Dystrophy
Survey of Ophthalmology, Vol.46(2), pp.149-163
2001
DOI: 10.1016/S0039-6257(01)00251-X
PMID: 11578648
Abstract
Autosomal dominant Stargardt-like macular dystrophy is one of the early onset macular dystrophies. It is characterized clinically in its early stages by visual loss and by the presence of atrophic macular changes with or without the presence of yellowish flecks. It is an important retinal dystrophy to study, not only because it has implications in the care and treatment of patients with the condition, but because it also provides important information regarding retinal function. Review of the literature suggests that many of the reported families are linked to chromosome 6q. Genetic and genealogical evidence suggests that these families have descended from a common ancestor or founder. The recent identification of a disease-causing gene that is involved in fatty acid metabolism may have implications in the study of the more common age-related macular degeneration. We review the recent clinical, genetic, and genealogical aspects of autosomal dominant Stargardt-like macular dystrophy.
Details
- Title: Subtitle
- Autosomal Dominant Stargardt-Like Macular Dystrophy
- Creators
- Larry A Donoso - Henry and Corinne Bower Laboratory for Macular Degeneration, Eye Research Institute, Wills Eye Hospital, Philadelphia, PA USAAlbert O Edwards - Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX USAArcilee Frost - Henry and Corinne Bower Laboratory for Macular Degeneration, Eye Research Institute, Wills Eye Hospital, Philadelphia, PA USATamara Vrabec - Henry and Corinne Bower Laboratory for Macular Degeneration, Eye Research Institute, Wills Eye Hospital, Philadelphia, PA USAEdwin M Stone - Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USAGregory S Hageman - Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USAThomas Perski - Macular Degeneration International, Tucson, AZ, USA
- Resource Type
- Journal article
- Publication Details
- Survey of Ophthalmology, Vol.46(2), pp.149-163
- DOI
- 10.1016/S0039-6257(01)00251-X
- PMID
- 11578648
- NLM abbreviation
- Surv Ophthalmol
- ISSN
- 0039-6257
- eISSN
- 1879-3304
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 2001
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979916302771
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