[Eye changes in familial juvenile nephronophthisis (author's transl)].
5 patients from three families with confirmed diagnoses of nephronophthisis and eye changes are described. All patients showed along with relatively slight decreased function changes in the pigment epithelium and the choroid. In three of these patients the ERG was pathologically reduced. Contrary to the known observations from the literature our patients showed no typical signs of congenital retinal Leber's amaurosis. The observed changes in the sclera reflect the gravity of the illness. With dialysis treatment the progress of the disease could in two patients be arrested for 4 years.
D000328:Adult; D001766:Blindness / Q000209:etiology; D004596:Electroretinography; D005128:Eye Diseases / Q000209:etiology*; D005132:Eye Manifestations; D006801:Humans; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics; D008297:Male
Augenveränderungen bei familiärer juveniler Nephronophthise