Macular dystrophy in association with Alport's syndrome

Background: Alport's syndrome is a hereditary disease with renal, cochlear, and ocular involvement. We report a patient with Alport's syndrome who exh ibited morphologic macular changes similar to cone dystrophy. History and signs: A 46-year old man was evaluated for peculiar macular cha nges, which have caused a significant decrease in visual acuity over the la st years. His general history was remarkable for the presence of sensorineu ral hearing impairment since infancy as well as end stage renal failure fol lowed by renal transplantation. The ophthalmological findings in this patie nt included circumscribed macular lesions consisting of atrophy of the reti nal pigment epithelium and bilateral anterior lenticonus. Conclusion: Alport's syndrome is a characteristic prototype of a genetic ba sement membrane disease with ocular, renal, and cochlear involvement. Commo n ocular findings are the dot-and-fleck retinopathy and the anterior lentic onus. In contrary to the anterior lenticonus retinal changes are rarely ass ociated with visual impairment. An association with a macular lesion simila r to the cone dystrophy has only infrequently been reported.