X-linked retinochii: report of a family with a rare deletion in the xLR1 gene

Purpoe To decribe the clinical feature and identify the dieae cauing mutation in a family with X-linked retinochii. Deign Cohort tudy. Method Genealogical invetigation and mutation creening of the XLR1 gene were performed in a four generation family of Icelandic ancetry. Three affected family member were evaluated clinically over a 29-year period. Reult A rarely reported, four bae pair deletion (375– 378 del AGAT) in exon 5 of the XLR1 gene wa found in all affected male. A high degree of intrafamilial variability wa oberved in the progreion of the diorder over 29 year. Concluion Identification of the dieae cauing mutation in thi family allow for the diagnoi of individual at rik for thi inherited macular degeneration. Furthermore, the long-term follow-up of ubject with identical mutation help to better characterize the highly variable clinical coure of thi diorder