Clinical and ultrastructural ocular histopathologic studies of adult-onset metachromatic leukodystrophy.
A twin brother and sister with adult-onset metachromatic leukodystrophy developed progressive central acuity loss and optic disk pallor. Both had normal electroretinograms and fluorescein angiography. Postmortem examination of the sister's eyes by histochemistry and electron microscopy revealed ganglion cell loss and optic atrophy. Cerebroside sulfate had accumulated in optic nerve glial cells. Optic atrophy was more advanced than in previously reported cases of infantile-onset metachromatic leukodystrophy. The pathologic process seemed to be retrograde optic nerve degeneration due to abnormal myelin metabolism.
D000328:Adult; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D009896:Optic Atrophy / Q000150:complications; D009900:Optic Nerve / Q000473:pathology; D012160:Retina / Q000473:pathology