Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation inthe COL4A5 gene

PURPOSE: To describe an unusual form of dot-and-fleck retinopathy in a slow er progressive form of X-linked Alport syndrome, caused by a novel missense mutation in the COL4A5 gene. METHOD: Ophthalmic examination, polymerase chain reaction, and single-stran d conformational polymorphism analysis of genomic DNA were performed in the proband. RESULTS: Ophthalmoscopy revealed classic dot-and-fleck retinopathy but loca ted in an unusual sire. A novel COL4A5 gene mutation changing glycine to cy steine at 177 was identified. CONCLUSIONS: Although there is no correlation between mutation site and the resulting phenotype in Alport syndrome, our findings suggest that further novel mutations and different ocular manifestations may be associated with Alport syndrome. (C) 2000 by Elsevier Science Inc. All rights reserved.