Renal retinal dysplasia with diffuse glomerular cysts.
A 32-year-old male with renal retinal dysplasia is presented. He also showed hearing loss and growth retardation. Laboratory data showed mild proteinuria, renal dysfunction and type-1 renal tubular acidosis. Computed tomography showed multiple cysts at the corticomedullary junction of both kidneys. Ocular examinations disclosed retinitis pigmentosa. On light microscopy of renal biopsy specimens, diffuse cystic dilatation of Bowman's space as well as dilated tubules with interstitial fibrosis and cellular infiltration were noted. Electron microscopy revealed a peculiar chromatin condensation of epithelial cell nuclei in Bowman's capsules, glomeruli and tubules. The association of renal retinal dysplasia with diffuse glomerular cysts has not, to our knowledge, been previously reported.
D000141:Acidosis, Renal Tubular / Q000150:complications; D000328:Adult; D006130:Growth Disorders / Q000150:complications; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000473:pathology*; D007678:Kidney Glomerulus / Q000473:pathology*; D007679:Kidney Medulla / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D012174:Retinitis Pigmentosa / Q000150:complications / Q000473:pathology*; D013577:Syndrome