[Ischemic lesions of the retina in a child with neurofibromatosis 1].
A rare case is described: unilateral diffuse retinal ischemia in a 3-year-old girl with type I neurofibromatosis. Besides retinal involvement, the child developed melanocytic iridial hamartomas in the ipsilateral eye and skin disorders presenting as "milk-and-coffee" spots and freckles in the armpits. Differential diagnosis and pathogenesis of retinal ischemia in neurofibromatosis are discussed.
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D002675:Child, Preschool; D003937:Diagnosis, Differential; D005123:Eye / Q000000981:diagnostic imaging; D005260:Female; D005654:Fundus Oculi; D006222:Hamartoma / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007499:Iris Diseases / Q000150:complications / Q000175:diagnosis; D007511:Ischemia / Q000150:complications / Q000175:diagnosis; D009456:Neurofibromatosis 1 / Q000150:complications*; D012164:Retinal Diseases / Q000150:complications / Q000175:diagnosis; D014463:Ultrasonography