[Clinical and histopathological findings in an unknown oculocerebral abnormality syndrome].
2 brothers of a genetically healthy family were born with multiple identical malformations and died at the age of 11 and 15 years. Clinically they presented hydrocephalus with convulsions, spastic dysplegia and blindness. Ophthalmologic investigations revealed one macrophthalmic eye with retinal malformations and deeply pigmented, partly occluded choroid, abnormal scleral pigmentation and optic atrophy. The other small eye showed meso- and ectodermal dysgenesis of the anterior segment and total retinal detachment as well as optic dysplasia. The brain was remarkably abnormal as well.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001766:Blindness / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D002648:Child; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008297:Male; D013577:Syndrome
Klinische und histopathologische Befunde bei unbekanntem, okulozerebralem Missbildungssyndrom.