Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene.
Publication/Presentation Date
9-1-2003
Abstract
PURPOSE: To describe the clinical features and identify the mutation responsible for an autosomal dominant macular degeneration occurring in a four-generation family.
METHODS: Family members underwent clinical examination and genealogical characterization. Mutation screening of the ELOVL4 gene was performed.
RESULTS: Patients reported visual loss occurring at a mean age of 20 years. Fundus examination revealed varying degrees of central macular atrophy with or without flecks in all affected individuals. DNA sequence analysis showed a 5-bp deletion in exon 6 of the ELOVL4 gene, confirming the diagnosis of autosomal dominant Stargardt-like macular dystrophy. Genealogical analysis showed that this family represents a new affected branch of a previously described 12-generation family (31 branches) with this disorder.
CONCLUSIONS: We characterized a new branch of a family with autosomal dominant Stargardt-like macular dystrophy. Identification of the disease-causing gene allows for improved genetic counseling of affected individuals.
Volume
136
Issue
3
First Page
542
Last Page
545
ISSN
0002-9394
Published In/Presented At
Vrabec, T. R., Tantri, A., Edwards, A., Frost, A., & Donoso, L. A. (2003). Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene. American journal of ophthalmology, 136(3), 542–545. https://doi.org/10.1016/s0002-9394(03)00227-7
Disciplines
Medicine and Health Sciences
PubMedID
12967813
Department(s)
Department of Medicine
Document Type
Article