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Histopathology and Ultrastructure of the Eye

Seymour Brownstein, MD; Stirling Carpenter, MD; Robert C. Polomeno, MD; John M. Little, MD

Arch Ophthalmol. 1980;98(6):1089-1097.

Abstract
• Sandhoff's disease (G_m2gangliosidosis type 2) was diagnosed in an infant in whom a progressive neurologic disorder and cherry-red foveal spots developed. At autopsy, ultrastructural examination of the retina and optic nerve disclosed abundant pleomorphic storage cytosomes in all neurons of the retina, including the inner segments of the photoreceptor cells, and in glial cells of the optic nerve. Electron microscopy of the cornea showed, within the keratocytes, distended clear lysosomes that contained some fibrillogranular material and an occasional collection of lamellae. We discuss the pathogenesis of the clinical and pathologic ocular findings with regard to the inherited absence of the enzymes hexosaminidase A and B and an accumulation of the substrates, G_m2 ganglioside and asialo G_m2, in the nervous system (including retina and optic nerve) and globoside and other hexosamine-containing substances in the viscera (including cornea).

Author Affiliations
From the Departments of Ophthalmology (Drs Brownstein, Polomeno, and Little), Pathology (Drs Brownstein and Carpenter), and NeurologyNeurosurgery (Dr Carpenter), McGill University, Montreal Children's Hospital, Royal Victoria Hospital, and Montreal Neurological Institute.

Footnotes
Accepted for publication Nov 26, 1979.

Reprint requests to Department of Ophthalmology, Royal Victoria Hospital, 687 Pine Ave W, Room E4.61, Montreal, Quebec, Canada H3A 1A1 (Dr Brownstein).

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