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Abstract #15813 Published in IGR 2-3
Ocular changes in heredo-oto-ophthalmo-encephalopathy
Bek TBritish Journal of Ophthalmology 2000; 84: 1298-1302
BACKGROUND: Heredo-oto-ophthalmo-encephalopathy (HOOE) is a dominantly inherited disease characterized by gradual loss of vision from the age of 20 years, progressive hearing loss from the late 20s, cerebellar ataxia in the 30s, and death in dementia in the fourth or fifth decade. Currently, no detailed description has been given of the ocular changes seen in HOOE. Therefore, the ocular changes of HOOE were described on the basis of clinical and histological data from six affected family members. METHODS: Three members of the family affected by HOOE were subjected to a full ophthalmological re-examination, and postmortem examination was done on three eyes from two affected family members. RESULTS: Visual loss in HOOE was caused by posterior subcapsular cataract and retinal neovascularization leading to vitreous hemorrhages and neovascular glaucoma. In the retina there was extensive accumulation of an amyloid material, both diffusely and in the walls of the retinal vessels. The retinal glial cells showed extensive pathological changes and retinal Muller cells were seen to occlude the lumen of retinal vessels. CONCLUSIONS: Heredo-oto-ophthalmo-encephalopathy is a familial amyloidosis of the central nervous system which is different from previously reported cases of amyloidosis by including cataract and retinal neovascularizations. The disease is accompanied by extensive changes in retinal glial cells that may play a part in the pathophysiology of the ocular complications of the disease.
Dr. T. Bek, Department of Ophthalmology, Arhus University Hospital, DK-8000 Arhus C, Denmark
Classification:
1.2 Population genetics (Part of: 1 General aspects)