X-linked retinoschisis: report of a family with a rare deletion in the XLRS1 gene.
Publication/Presentation Date
9-1-2003
Abstract
PURPOSE: To describe the clinical features and identify the disease causing mutation in a family with X-linked retinoschisis.
DESIGN: Cohort study.
METHODS: Genealogical investigation and mutation screening of the XLRS1 gene were performed in a four generation family of Icelandic ancestry. Three affected family members were evaluated clinically over a 29-year period.
RESULTS: A rarely reported, four base pair deletion (375- 378 del AGAT) in exon 5 of the XLRS1 gene was found in all affected males. A high degree of intrafamilial variability was observed in the progression of the disorder over 29 years.
CONCLUSIONS: Identification of the disease causing mutation in this family allows for the diagnosis of individuals at risk for this inherited macular degeneration. Furthermore, the long-term follow-up of subjects with identical mutations helps to better characterize the highly variable clinical course of this disorder.
Volume
136
Issue
3
First Page
547
Last Page
549
ISSN
0002-9394
Published In/Presented At
Tantri, A., Vrabec, T. R., Cu-Unjieng, A., Frost, A., Annesley, W. H., Jr, & Donoso, L. A. (2003). X-linked retinoschisis: report of a family with a rare deletion in the XLRS1 gene. American journal of ophthalmology, 136(3), 547–549. https://doi.org/10.1016/s0002-9394(03)00236-8
Disciplines
Medicine and Health Sciences
PubMedID
12967815
Department(s)
Department of Medicine
Document Type
Article