title: Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis.
abstract: OBJECTIVE
  To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Departamento de Oftalmología, Asociación Para Evitar la Ceguera en México, Hospital «Dr. Luis Sánchez Bulnes», Ciudad de México, México.
authors.forename: C
authors.initials: C
authors.lastname: Montecinos-Contreras
authors.affiliation: Departamento de Retina, Asociación Para Evitar la Ceguera en México, Hospital «Dr. Luis Sánchez Bulnes», Ciudad de México, México.
authors.forename: H E
authors.initials: HE
authors.lastname: Sepúlveda-Vázquez
authors.affiliation: Unidad de Investigación y Genética, Instituto de Oftalmología «Conde de Valenciana», Ciudad de México, México.
authors.forename: E
authors.initials: E
authors.lastname: Pelcastre-Luna
authors.affiliation: Unidad de Investigación y Genética, Instituto de Oftalmología «Conde de Valenciana», Ciudad de México, México; Departamento de Bioquímica, Universidad Nacional Autónoma de México, Ciudad de México, México.
authors.forename: J C
authors.initials: JC
authors.lastname: Zenteno
authors.affiliation: Departamento de Genética, Asociación Para Evitar la Ceguera en México, Hospital «Dr. Luis Sánchez Bulnes», Ciudad de México, México. Electronic address: villanuevacristina@hotmail.com.
authors.forename: C
authors.initials: C
authors.lastname: Villanueva-Mendoza
mesh_terms: D000293:Adolescent; D058070:Asymptomatic Diseases; D015785:Eye Diseases, Hereditary; D000080345:Familial Exudative Vitreoretinopathies; D051157:Frizzled Receptors / Q000235:genetics*; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D012164:Retinal Diseases / Q000235:genetics*
chemical_list: C402930:FZD4 protein, human; D051157:Frizzled Receptors
keywords: Asyntomatic disease; Enfermedad asintomática; Exudative vitreoretinopathy; FZD4; Retinal vascularization; Vascularización retiniana; Vitreoretinopathy; Vitreorretinopatía; Vitreorretinopatía exudativa