ABSTRACT
OBJETIVO: Reportar un caso familiar de vitreorretinopatía exudativa familiar (VREF), con herencia autosómica dominante, identificado por el análisis molecular de FZD4. CASO CLÍNICO: El caso índice tiene 13 años y consulta por baja visión. Al examen de fondo de ojo se demuestran zonas periféricas avasculares y tracción macular, diagnosticándose VREF. El análisis molecular de FZD4 demuestra una mutación patológica en el paciente y en su madre asintomática. DISCUSIÓN: El presente caso familiar fue identificado mediante el análisis molecular de FZD4, y demuestra la importancia de explorar a los familiares de primer grado en los casos esporádicos de VREF
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
Subject(s)
Humans , Vitreoretinopathy, Proliferative/genetics , Wet Macular Degeneration/genetics , Eye Diseases, Hereditary/genetics , Retinal Vessels/physiopathology , Chromosome Aberrations , Fluorescein AngiographyABSTRACT
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.