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• W2001391738 abstract "The ophthalmologic findings in 15 patients with childhood adrenoleukodystrophy (ALD) are reviewed. In this X-linked demyelinating disease with adrenal dysfunction, relentlessly progressive visual loss followed by optic atrophy occurs months to years after the diagnosis is established based on neurologic symptoms and biochemical abnormalities. Visual loss is mainly due to central nervous system (CNS) demyelination involving the visual tracts, but primary retinal ganglion cell degeneration may also be operative. All patients in this study were male. Vision ranged from 20/20 to no light perception (NLP). All but one patient with bilateral cataracts had normal anterior segment examinations. Seven patients had exotropia, and esotropia developed in one patient. Electroretinography (ERG) and electrooculography (EOG) findings were normal in two patients with severe visual loss. Macular pigmentary changes were observed in three patients. Optic pallor was noticed in seven patients. Optic nerve hypoplasia was seen in one patient. Visual-evoked responses were abnormal in two patients and borderline in one. Progressive visual field abnormalities were noticed in three patients, large field cuts in two patients, and normal fields in another two patients. The diagnosis of ALD should be considered in all boys presenting with unexplained visual loss, dementia, and adrenal dysfunction." @default.
• W2001391738 created "2016-06-24" @default.
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• W2001391738 date "1987-01-01" @default.
• W2001391738 modified "2023-09-25" @default.
• W2001391738 title "Ophthalmologic Manifestations of X-linked Childhood Adrenoleulcodystrophy" @default.
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• W2001391738 doi "https://doi.org/10.1016/s0161-6420(87)33504-3" @default.
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