A case of familial exudative vitreoretinopathy identified after genetic testing

Kyle E. Miller; Mary J. Willis; Scott K. McClatchey

doi:10.1016/j.jaapos.2014.10.029

A case of familial exudative vitreoretinopathy identified after genetic testing

Kyle E. Miller
, Mary J. Willis
, Scott K. McClatchey

Naval Medical Center San Diego
Uniformed Services University of the Health Sciences
Loma Linda University Health

Producción científica › revisión exhaustiva

3 Citas (Scopus)

Resumen

We report the case of a 21-month-old girl who was found to have familial exudative vitreoretinopathy after genetic testing revealed a genetic deletion at 7q22. She had previously been followed for exotropia; however, fundus examinations in the office were thought to be normal. After the pediatric geneticist identified the link between 7q22 deletions and vitreoretinopathies an examination under anesthesia was performed. Fluorescein angiography during this examination confirmed the presence of avascular areas of the retina.

Idioma original	English
Páginas (desde-hasta)	178-180
Número de páginas	3
Publicación	Journal of AAPOS
Volumen	19
N.º	2
DOI	https://doi.org/10.1016/j.jaapos.2014.10.029
Estado	Published - 1 abr 2015
Publicado de forma externa	Sí

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abstract = "We report the case of a 21-month-old girl who was found to have familial exudative vitreoretinopathy after genetic testing revealed a genetic deletion at 7q22. She had previously been followed for exotropia; however, fundus examinations in the office were thought to be normal. After the pediatric geneticist identified the link between 7q22 deletions and vitreoretinopathies an examination under anesthesia was performed. Fluorescein angiography during this examination confirmed the presence of avascular areas of the retina.",

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AB - We report the case of a 21-month-old girl who was found to have familial exudative vitreoretinopathy after genetic testing revealed a genetic deletion at 7q22. She had previously been followed for exotropia; however, fundus examinations in the office were thought to be normal. After the pediatric geneticist identified the link between 7q22 deletions and vitreoretinopathies an examination under anesthesia was performed. Fluorescein angiography during this examination confirmed the presence of avascular areas of the retina.

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A case of familial exudative vitreoretinopathy identified after genetic testing

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