{Reference Type}: Case Reports
{Title}: Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis.
{Author}: Montecinos-Contreras C;Sepúlveda-Vázquez HE;Pelcastre-Luna E;Zenteno JC;Villanueva-Mendoza C;
{Journal}: Arch Soc Esp Oftalmol
{Volume}: 92
{Issue}: 4
{Year}: Apr 2017
暂无{DOI}: 10.1016/j.oftal.2016.08.003
{Abstract}: <B>OBJECTIVE: </B>To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.