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Abstract #5933 Published in IGR 2-2
A DIDMOAD syndrome family with juvenile glaucoma and myopia findings
Bekir NA; Gungor K; Guran SActa Ophthalmologica Scandinavica 2000; 78: 480-482
The authors present two DIDMOAD syndrome cases (diabetes mellitus, diabetes insipidus, optic atrophy, deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. Diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both these DIDMOAD syndrome cases are the first ophthalmic manifestations described in DIDMOAD syndrome.
Dr. N.A. Bekir, Gaziantep University, Medical Faculty, Department of Ophthalmology, Kolejtepe, 27070 Gaziantep, Turkey
Classification:
1.2 Population genetics (Part of: 1 General aspects)
