Sex-linked hereditary bilateral anophthalmos. Pathologic and radiologic correlation.
A 27-year-old man had X-linked true anophthalmos. No evidence of optic globe, nerves, or chiasm was found. Rudimentary structures suggesting optic tracts were present. Lateral geniculate nuclei were present but gliotic. Calcarine cortex was thinner but had usual lamination. The normal patches of cytochrome oxidase activity in layers II and III of visual cortex were absent.
D000328:Adult; D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D005829:Geniculate Bodies / Q000473:pathology; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D014793:Visual Cortex / Q000473:pathology; D014960:X Chromosome