title: A case of familial exudative vitreoretinopathy identified after genetic testing.
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.
authors.affiliation: Department of Ophthalmology, Naval Medical Center San Diego, San Diego, California. Electronic address: Kyle.Miller@med.navy.mil.
authors.forename: Kyle E
authors.initials: KE
authors.lastname: Miller
authors.affiliation: Department of Pediatrics, Naval Medical Center San Diego, San Diego, California.
authors.forename: Mary J
authors.initials: MJ
authors.lastname: Willis
authors.affiliation: Ophthalmology Department, Naval Medical Center San Diego, San Diego, California; Uniformed Services University of Health Sciences, Bethesda, Maryland; Loma Linda University Medical Center, Loma Linda, California.
authors.forename: Scott K
authors.initials: SK
authors.lastname: McClatchey
mesh_terms: D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D015785:Eye Diseases, Hereditary; D000080345:Familial Exudative Vitreoretinopathies; D005260:Female; D005451:Fluorescein Angiography; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics; D059470:Tetraspanins / Q000235:genetics
chemical_list: C545100:TSPAN12 protein, human; D059470:Tetraspanins