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Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.

Bart Lafaut, Bart Loeys (UGent) , Bart Leroy (UGent) , W Spileers, Jean Delaey (UGent) and Philippe Kestelyn (UGent)
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Abstract
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.
Keywords
FAMILY, NEOVASCULAR INFLAMMATORY VITREORETINOPATHY

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Chicago
Lafaut, Bart, Bart Loeys, Bart Leroy, W Spileers, Jean Delaey, and Philippe Kestelyn. 2001. “Clinical and Electrophysiological Findings in Autosomal Dominant Vitreoretinochoroidopathy: Report of a New Pedigree.” Graefes Archive for Clinical and Experimental Ophthalmology 239 (8): 575–582.
APA
Lafaut, B., Loeys, B., Leroy, B., Spileers, W., Delaey, J., & Kestelyn, P. (2001). Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 239(8), 575–582.
Vancouver
1.
Lafaut B, Loeys B, Leroy B, Spileers W, Delaey J, Kestelyn P. Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY. 2001;239(8):575–82.
MLA
Lafaut, Bart, Bart Loeys, Bart Leroy, et al. “Clinical and Electrophysiological Findings in Autosomal Dominant Vitreoretinochoroidopathy: Report of a New Pedigree.” GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY 239.8 (2001): 575–582. Print.
@article{141072,
  abstract     = {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.},
  author       = {Lafaut, Bart and Loeys, Bart and Leroy, Bart and Spileers, W and Delaey, Jean and Kestelyn, Philippe},
  issn         = {0721-832X},
  journal      = {GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY},
  language     = {eng},
  number       = {8},
  pages        = {575--582},
  title        = {Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.},
  url          = {http://dx.doi.org/10.1007/s004170100318},
  volume       = {239},
  year         = {2001},
}

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