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. Case report The proband is a 13 year-old boy who consulted for low vision. Fundus examination revealed a peripher...

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Published inArchivos de la Sociedad Española de Oftalmología (English ed.) Vol. 92; no. 4; pp. 189 - 192
Main Authors Montecinos-Contreras, C, Sepúlveda-Vázquez, H.E, Pelcastre-Luna, E, Zenteno, J.C, Villanueva-Mendoza, C
Format Journal Article
LanguageEnglish
Published Elsevier España, S.L.U 01.04.2017
Subjects
Asyntomatic disease
Enfermedad asintomática
Exudative vitreoretinopathy
FZD4
Ophthalmology
Retinal vascularization
Vascularización retiniana
Vitreoretinopathy
Vitreorretinopatía
Vitreorretinopatía exudativa
Retinal vascularization
Vitreorretinopatía
Vascularización retiniana
FZD4
Vitreoretinopathy
Asyntomatic disease
Vitreorretinopatía exudativa
Exudative vitreoretinopathy
Enfermedad asintomática
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Abstract 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. 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.
AbstractList To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis of FZD4. 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. 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. Reportar un caso familiar de vitreorretinopatía exudativa familiar (VREF), con herencia autosómica dominante, identificado por el análisis molecular de FZD4. 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. 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.
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. 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.
Author Montecinos-Contreras, C
Sepúlveda-Vázquez, H.E
Villanueva-Mendoza, C
Pelcastre-Luna, E
Zenteno, J.C
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Cites_doi 10.1001/archophthalmol.2010.240
10.1080/13816810701663543
10.1136/bjo.2010.190116
10.4321/S0365-66912008001200004
10.1167/iovs.08-3320
10.1016/j.ophtha.2013.08.010
10.1001/archophthalmol.2009.322
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Keywords Retinal vascularization
Vitreorretinopatía
Vascularización retiniana
FZD4
Vitreoretinopathy
Asyntomatic disease
Vitreorretinopatía exudativa
Exudative vitreoretinopathy
Enfermedad asintomática
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Snippet Abstract Objective To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the...
To report a familial case of Familial Exudative Vitreoretinopathy (FEVR) with an autosomal dominant inheritance pattern identified with the molecular analysis...
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SubjectTerms Asyntomatic disease
Enfermedad asintomática
Exudative vitreoretinopathy
FZD4
Ophthalmology
Retinal vascularization
Vascularización retiniana
Vitreoretinopathy
Vitreorretinopatía
Vitreorretinopatía exudativa
Title Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis
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