Perimacular Changes in Alport's Syndrome

From 1962 to 1977, 79 patients with Alport's syndrome underwent serial fundoscopic examination. In 29 patients (24 males, 5 females), symmetric bilateral perimacular changes were found, consisting of bright, whitish or yellowish dense granulations, surrounding the foveal area. Fluorescein angiography was normal in 8/8 studied cases. All 29 patients had bilateral lenticonus and neural hearing loss; ultrastructural lesion of glomerular basement membrane was present in 11/11 studied patients. Chronic renal failure developed in 26 patients, with 20 treated by maintenance hemodialysis. In contrast, perimacular lesions were absent in the other 50 patients (27 males, 23 females). Anterior lenticonus was detected in none; perceptive deafness was demonstrated in only 20; kidney ultrastructural lesions in 16 of 30 studied cases. Patients with perimacular changes had significantly earlier renal failure (P less than 0.001) than patients without. In conclusion, perimacular changes appear as a simple and reliable indicator of Alport's syndrome, often associated with early renal failure.