[Dominant infantile optic nerve atrophy].
The authors present an account of a family with an autosomal dominant infantile atrophy of the optic nerve. In three generations two men and three women were affected. With the clinical picture of simple atrophy of the optic nerve with a different degree of expressivity corresponded functional and fluoroangiographic changes. Disorders of colour vision were within the range of deuteroanomaly, deuteroanopia. The proband suffered also from tritanopia. The disease did not call for amaurotic training.
Szedélyová
L
L
Vaisová
Z
Z
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
Dominantná infantilná atrofia optiku.