[Independence of retinopathy and optic atrophy in the DIDMOAD syndrome].
A brother and a sister with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness, etc.) are described. The 15-year-old girl was suffering from severe optic atrophy, severe sensorineural hearing loss but only slight diabetic retinopathy. The 16-year-old boy presented with symptoms which were the opposite: slight optic atrophy, slight sensorineural hearing loss but severe diabetic retinopathy. These complementary impairments of neuronal and (diabetic) retinal function suggest that optic atrophy and retinopathy develop independently in DIDMOAD syndrome.
D000293:Adolescent; D001301:Audiometry, Pure-Tone; D003638:Deafness / Q000235:genetics*; D003919:Diabetes Insipidus / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D005451:Fluorescein Angiography; D006316:Hearing Loss, High-Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000235:genetics*; D013577:Syndrome; D014794:Visual Fields
Unabhängigkeit von Retinopathie und Optikusatrophie beim DIDMOAD-Syndrom.