A Case of Alport's Syndrome with Retinitis Pigmentosa sine Pigmento

抄録

A female patient found to be suffering from Alport's syndrome is reported. The patient was first seen to have proteinuria at the age of 25. Thereafter diagnoses of retinitis pigmentosa sine pigmento and nerve deafness were made. She died of uremia at the age of 64. Chronic nephritis, nerve deafness, and myopia were found in her family. The histologic pattern of the kidneys was consistent with chronic glomerulonephritis. Electron microscopy showed diffuse irregular thickening and splitting of the lamina densa in the glomerular basement membrane. The association of Alport's syndrome with retinitis pigmentosa sine pigmento has not here-to-fore been reported.