A novel mutation in the RD/Peripherin gene caue adult-onet foveomacular dytrophy

Purpoe To decribe a novel mutation in the RD/Peripherin gene that reult in a moderately evere form of adult-onet foveomacular dytrophy. Deign Obervational cae erie. Method elected member of a family with adult-onet foveomacular dytrophy underwent complete ophthalmic evaluation, including fundu photography and fluorecein angiography, in a tertiary care referral center. The tudy population conited of 12 member of a Caucaian kindred. After providing informed conent, patient donated blood for genomic DNA extraction and mutational creening uing tandard technique. The main outcome meaure were the preence of a RD/Peripherin gene mutation in a patient with the dieae and it abence in unaffected family member and control. Reult Eight affected family member and no unaffected family member demontrated a ingle guanine bae deletion at nucleotide 112 that led to premature termination at amino acid 38 of RD/Peripherin polypeptide. Thi framehift mutation reult in truncation of nearly 90% of the gene product, thu probably repreenting a null allele. That reult in a relatively evere phenotype, with choroidal neovacularization developing in two patient and geographic atrophy involving the macula in three patient. Concluion We decribe a framehift null mutation in the RD/Peripherin gene aociated with a relatively evere manifetation of adult-onet foveomacular dytrophy in affected family member.