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Sex-Linked Hereditary Bilateral AnophthalmosPathologic and Radiologic Correlation
Philip J. Brunquell, MD;
John H. Papale, MD;
Jonathan C. Horton, PhD;
Roger S. Williams, MD;
Michael J. Zgrabik, MD;
Daniel M. Albert, MD;
E. Tessa Hedley-Whyte, MD
Arch Ophthalmol. 1984;102(1):108-113.
Abstract
• 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.
Author Affiliations
From the Charles S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital (Drs Brunquell, Williams, and Hedley-Whyte); Howe Laboratory, Massachusetts Eye and Ear Infirmary (Drs Papale, Zgrabik, and Albert); and the Departments of Neurology (Drs Brunquell and Williams), Ophthalmology (Drs Papale and Zgrabik), Neurobiology (Dr Horton), and Pathology (Dr Hedley-Whyte), Harvard Medical School, Boston.
Footnotes
Accepted for publication Jan 5, 1983.
Presented in part at the American Academy of Neurology meeting, San Diego, April 30, 1983.
Reprint requests to Department of Pathology, Massachusetts General Hospital, Boston, MA 02114 (Dr Hedley-Whyte).
Russell Kerschmann, MD, performed the nonneurophthalmologic portion of the autopsy.
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