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Unilateral Familial Exudative Vitreoretinopathy: Clinical Profile and Pathology

Authors
  • Boal, Nina S.
  • Distefano, Alberto G.
  • Christiansen, Stephen P.
  • Laver, Nora V.
Type
Published Article
Journal
Case Reports in Ophthalmology
Publisher
S. Karger AG
Publication Date
May 10, 2021
Volume
12
Issue
2
Pages
386–391
Identifiers
DOI: 10.1159/000516004
PMID: 34054489
PMCID: PMC8136333
Source
PubMed Central
Keywords
Disciplines
  • Case Report
License
Unknown

Abstract

We report a case of a newborn with unilateral retinal detachment that could not be repaired. At examination under anesthesia, the retina was markedly abnormal and a presumptive diagnosis of retinal dysplasia was made. Several years later, the eye was enucleated because it was blind and painful. Final pathology was consistent with familial exudative vitreoretinopathy (FEVR). The literature describing unilateral retinal dysplasia is sparse. This case adds to the clinical spectrum of pathologic findings in FEVR.

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