Archivos de la Sociedad Espanola de Oftalmologia · 2016
Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis.
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Montecinos-Contreras C, Sepúlveda-Vázquez H E, Pelcastre-Luna E, Zenteno J C, Villanueva-Mendoza C
Аннотация
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.
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.