title: Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy.
abstract: Familial exudative vitreoretinopathy and osteoporosis pseudoglioma syndrome are conditions that result from mutations in the LRP5 gene. Persistent fetal vasculature is a rare congenital malformation that can mimic end-stage familial exudative vitreoretinopathy. The authors report a case of familial exudative vitreoretinopathy in the spectrum of osteoporosis pseudoglioma syndrome associated with novel mutations of the LRP5 and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature. Both conditions can result in bilateral early-onset blindness. A high index of suspicion, dilated fundus examination and angiography of the parents, and genetic testing are necessary to ensure a correct diagnosis.
authors.forename: Gregory D
authors.initials: GD
authors.lastname: Kramer
authors.forename: Emil Anthony T
authors.initials: EA
authors.lastname: Say
authors.forename: Carol L
authors.initials: CL
authors.lastname: Shields
mesh_terms: D015502:Absorptiometry, Photon; D015519:Bone Density; D015785:Eye Diseases, Hereditary; D000080345:Familial Exudative Vitreoretinopathies; D005451:Fluorescein Angiography; D006801:Humans; D007223:Infant; D060492:Low Density Lipoprotein Receptor-Related Protein-5 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D054514:Persistent Hyperplastic Primary Vitreous / Q000175:diagnosis / Q000235:genetics; D012163:Retinal Detachment / Q000175:diagnosis; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D059470:Tetraspanins / Q000235:genetics*
chemical_list: C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; C545100:TSPAN12 protein, human; D059470:Tetraspanins