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Title
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Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree
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Author
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Abstract
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| Purpose: To report the clinical and electrophysiological findings in a three-generation pedigree with autosomal dominant vitreoretinochoroidopathy. Methods: Sixteen members of a three-generation pedigree with autosomal dominant vitreoretinochoroidopathy were examined clinically, including measurement of the corneal diameter. In 14 persons, Goldmann perimetry, axial length determination and electro-oculography were carried out. Electroretinography, according to ISCEV standards, was performed in 11 of 12 affected persons. Results: Characteristic annular peripheral pigmentary changes were present in all affected members, as well as chorioretinal atrophy varying from a tigroid aspect to marked atrophy. Four patients presented a microcornea and shallow anterior chamber without microphthalmia. The visual fields appeared to narrow with ageing. The electro-oculography was pathological in the affected patients and normal in the unaffected. The electroretinographic amplitude responses tended to worsen with age, with maintenance of near normal latencies. Conclusion: The clinical presentation of autosomal dominant vitreoretinopathy is variable. Electrooculography seems to be a discriminative test. The condition may be associated with anterior segment abnormalities other than presenile cataract, such as microcornea, shallow anterior chamber and angle closure glaucoma. |
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Language
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English
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Source (journal)
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Graefe's archive for clinical and experimental ophthalmology. - Berlin, 1982, currens
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Publication
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Berlin
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Springer
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2001
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ISSN
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0721-832X
[print]
1435-702X
[online]
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DOI
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10.1007/S004170100318
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Volume/pages
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239
:8
(2001)
, p. 575-582
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ISI
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000170888000005
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Full text (Publisher's DOI)
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