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Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected
C Montecinos-Contreras1, H E Sepúlveda-Vázquez2, E Pelcastre-Luna3
1Departamento de Oftalmología, Asociación Para Evitar la Ceguera en México, Hospital «Dr. Luis Sánchez Bulnes», Ciudad de México, México.
Objective:
To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4.
Case Report:
The proband is a 13 year-old boy who consulted for low vision. Fundus examination revealed a peripheral avascular zone and macular dragging, consistent with FEVR. Molecular analysis demonstrated a mutation of FZD4 in DNA from both the patient and his asymptomatic mother.
Discussion:
This familial case was identified with the molecular analysis of FZD4 and shows the importance to explore first degree relatives in a sporadic FEVR case.
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