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. 2000 Nov;84(11):1298–1302. doi: 10.1136/bjo.84.11.1298

Ocular changes in heredo-oto-ophthalmo-encephalopathy

T Bek
PMCID: PMC1723312  PMID: 11049958

Abstract

BACKGROUND— Heredo-oto-ophthalmo-encephalopathy (HOOE) is a dominantly inherited disease characterised by gradual loss of vision from the age of 20, 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 neovascularisations leading to vitreous haemorrhages 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 Müller cells were seen to occlude the lumen of retinal vessels.
CONCLUSION— 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 neovascularisations. 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.



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Figure 1  .

Figure 1  

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Pedigree of the studied family with HOOE. Asterisks indicate family members who have not reached the age where ocular symptoms may develop.

Figure 2  .

Figure 2  

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The fundus of the right eye of VI.1. A cotton wool spot is seen at the lower temporal vascular arcade (arrow).

Figure 3  .

Figure 3  

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The temporal part of the macular area in the left fundus of V.2. The fovea is indicated with a black dot. The retina shows pronounced pathology with haemorrhages, exudates, and calibre changes of the retinal venules. The pale spots temporally in the macular area represent laser scars.

Figure 4  .

Figure 4  

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Nearby sections through a mid-peripheral part of the retina from one eye of IV.4. Bars = 25 µm. (A) Alkaline Congo staining material accumulated diffusely in the retina and in the walls of medium sized retinal vessels, in some cases leading to total obliteration of the vascular lumen (arrows). (B) von Willebrand factor immunoreactivity corresponding to vascular endothelial cells (arrow) with amyloid accumulated externally (asterisk).(C) Fibronectin immunoreactivity (arrow) external to the accumulated amyloid (asterisk).(D) S-100 protein immunoreactivity corresponding to perivascular glial cells located on the vitreal side of a retinal vessel (arrow). (E) Glial fibrillary acid protein immunoreactivity representing Müller cell processes that obliterate the lumen of retinal vessels (arrows).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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