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Electrophysiological findings in familial exudative vitreoretinopathy

✍ Scribed by Hirofumi Ohkubo; Tsuyoshi Tanino


Publisher
Springer-Verlag
Year
1987
Tongue
English
Weight
677 KB
Volume
65
Category
Article
ISSN
0012-4486

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✦ Synopsis


Three patients in a family with familial exudative vitreoretinopathy (FEVR) were studied especially electrophysiologically. Two cases showed abnormal ERG, namely reduction of amplitude of oscillatory potentials, a and b wave of bright white flash ERG, scotopic and photopic b waves. One case showed reduced Light peak/Dark trough ratio of EOG. Next, the electrophysiological findings of cases with FEVR reported in the literature were analyzed. The result was that FEVR has electrophysiological varieties but a statistical significant relationship between electrophysiological findings and visual acuity. That is, cases with abnormal ERG or EOG have more impaired visual acuity than normal ones. Furthermore, there was a tendency that eyes with abnormal ERG or EOG showed more disturbed color vision and advanced fundus findings than normal ones. These results seemed to be understandable by anatomically characteristic fundus feature of FEVR.


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Complexity of the genotype–phenotype cor
✍ Minghui Qin; Hideyuki Hayashi; Kenji Oshima; Tomoko Tahira; Kenshi Hayashi; Hiro πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 524 KB

Familial exudative vitreoretinopathy (FEVR) is a hereditary blinding disorder that features defects in retinal vascular development. The mutations in the genes encoding the Wnt receptor pair, frizzled 4 (FZD4) and low-density-lipoprotein receptor-related protein 5 (LRP5), have been shown to cause FE