Lenticonus in Alport's syndrome. A family study.
A South Indian family with three well documented cases of Alport's syndrome with anterior lenticonus are reported. Clinical features of the syndrome including ocular and laboratory findings have been presented and discussed. Macular pigmentation, 5 cases, subcapsular opacity and nephrotic syndrome, one case each, observed in the present series are of great interest and are quite rare in patients with Alport's syndrome. Critical analysis of the family pedigree revealed autosomal dominance with incomplete penetrance as the possible mode of genetic transmission of the disease.
D000293:Adolescent; D000328:Adult; D003638:Deafness / Q000235:genetics; D006801:Humans; D007908:Lens, Crystalline / Q000002:abnormalities*; D008266:Macula Lutea / Q000002:abnormalities; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014792:Visual Acuity