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

Graefes Arch Clin Exp Ophthalmol. 2001 Aug;239(8):575-82. doi: 10.1007/s004170100318.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anterior Eye Segment / abnormalities
  • Child
  • Choroid Diseases / complications*
  • Choroid Diseases / diagnosis
  • Choroid Diseases / genetics
  • Electrooculography
  • Electroretinography
  • Eye Abnormalities / complications
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics
  • Eye Diseases / complications*
  • Eye Diseases / diagnosis
  • Eye Diseases / genetics
  • Eye Diseases, Hereditary / complications*
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics
  • Female
  • Fluorescein Angiography
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Retinal Diseases / complications*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics
  • Visual Field Tests
  • Visual Fields
  • Vitreous Body / pathology*