Abstract
Purpose: :
First described in 1968, Familial Exudative Vitreoretinopathy (FEVR) has been a known entity for forty-one years. The purpose of this paper is to review patients seen over that period of time and to document their changes and progress.
Methods: :
A retrospective chart review of twenty-eight patients with FEVR was conducted to document their findings and progression.
Results: :
Of the twenty-eight patients, nineteen were male and nine were female. Four families were involved representing fourteen patients in the study. There were twenty-three Caucasian patients, two African-American and three from the Indian subcontinent. The ages at presentation ranged from six months to seventy-four years. The average age at the time of the first examination was twenty-four years with a median of sixteen. Eight of the patients (29%) had asymmetrical findings. There were six retinal detachments, four exudative and two rhegmatogenous. In one family a Frizzled-4-Gene defect was confirmed. In the course of following these patients seven eyes required enucleation.
Conclusions: :
Generally FEVR is an autosomal dominant inherited condition. A wide spectrum of clinical findings was noted, and when progression occurred it was often in childhood, but adults also occasionally developed vision threatening changes emphasizing the lifetime nature of the disease.
Keywords: retina • retinal neovascularization • genetics