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

Purpose: To report the clinical and electrophysiological findings in a thre e-generation pedigree with autosomal dominant vitreoretinochoroidopathy. Me thods: Sixteen members of a three-generation pedigree with autosomal domina nt vitreoretinochoroidopathy were examined clinically, including measuremen t 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 t igroid 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 aff ected patients and normal in the unaffected. The electroretinographic ampli tude responses tended to worsen with age, with maintenance of near normal l atencies. Conclusion: The clinical presentation of autosomal dominant vitre oretinopathy is variable. Electrooculography seems to be a discriminative t est. The condition may be associated with anterior segment abnormalities ot her than presenile cataract, such as microcornea, shallow anterior chamber and angle closure glaucoma.