Clinical pectrum of chromoome 6–linked autoomal dominant druen and macular degeneration

PURPOE: To decribe the clinical phenotype and the intrafamilial variation in retinal finding in a North American family with an autoomal dominant druen diorder that map to chromoome 6q14. METHOD: Ophthalmic examination were carried out on participating family member. Fundu photograph were obtained whenever poible. Electroretinography wa performed on the proband and her father. Blood wa drawn for DNA analyi. REULT: Twelve family member had druen and/or atrophic macular degeneration. The dieae in aymptomatic young adult i characterized by fine druen that are mot conpicuou in the macula. The proband preented at 3 year of age with atrophic maculopathy and druen. Her couin wa found to have atrophic macular leion and druen in the firt year of life. Two older affected individual have reduced viion from cicatricial and atrophic macular change. The gene for the dieae wa mapped to chromoome 6q14 and appear to be adjacent to but ditinct from the locu for North Carolina macular dytrophy. CONCLUION: There i extreme variability in the clinical expreion of thi dominant form of druen and macular degeneration. Mot young adult have fine macular druen and good viion. Affected infant and children may have congenital atrophic maculopathy and druen. There i hitorical evidence of progreion of the dieae in late adulthood with moderate viual lo.