Dot-and-fleck retinopathy in Alport yndrome caued by a novel mutation in the COL4A5 gene

%PURPOE: To decribe an unuual form of dot-and-fleck retinopathy in a lower progreive form of X-linked Alport yndrome, caued by a novel miene mutation in the COL4A5 gene. METHOD: Ophthalmic examination, polymerae chain reaction, and ingle-trand conformational polymorphim analyi of genomic DNA were performed in the proband. REULT: Ophthalmocopy revealed claic dot-and-fleck retinopathy but located in an unuual ite. A novel COL4A5 gene mutation changing glycine to cyteine at 177 wa identified. CONCLUION: Although there i no correlation between mutation ite and the reulting phenotype in Alport yndrome, our finding ugget that further novel mutation and different ocular manifetation may be aociated with Alport yndrome.