Ocular manifestations of genetic and developmental diseases

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Important advances were recently reported in mitochondrial diseases including Leber's optic neuropathy, Kearns-Sayre syndrome, and myo-neurogastrointestinal encephalopathy syndrome, combined hamartoma of the retina and retinal pigment epithelium, Hallermann-Streiff syndrome, Norrie's disease, von Hippel-Lindau disease, incontinentia pigmenti, and lattice corneal dystrophy type 2. Topics discussed include a general overview of mitochondrial DNA and mitochondrial-derived inheritance, phenotypic mutational variations in patients with Leber's optic neuropathy, detection of platelet mitochondrial DNA deletions in patients with Kearns-Sayre syndrome, and ophthalmic involvement in the myo-neurogastrointestinal encephalopathy syndrome. The suspected association between combined hamartoma of the retina and retinal pigment epithelium and epiretinal membranes with neurofibromatosis type 2 is discussed, as is the similarity between Hallermann-Streiff syndrome and oculodento-digital dysplasia. Use of restriction fragment-length polymorphisms to attain the prenatal diagnosis of Norrie's disease and the postnatal identification of at-risk individuals in families in which von Hippel-Lindau disease is segregating is presented, and an unusual case of incontinentia pigmenti in a man with Klinefelter's syndrome is described. Finally, a group of patients with lattice corneal dystrophy type 2 in whom a gelsolin gene mutation was identified is presented.

Current Opinion in Ophthalmology 1993, 4;VI:75-82

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