title: Familial exudative vitreoretinopathy and related retinopathies.
abstract: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of ischaemia, causes the secondary complications of the disease. Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (autosomal dominant and recessive), LRP5 (autosomal dominant and recessive), TSPAN12 (autosomal dominant and recessive), and ZNF408 (autosomal dominant). Four of these genes have been shown to have a central role in Norrin/Frizzled4 signalling, suggesting a critical role for this pathway in retinal angiogenesis. In addition to the ocular features, LRP5 mutations can cause osteopenia and osteoporosis. All FEVR patients in whom molecular testing is not easily accessible should have dual energy X-ray absorptiometry (DEXA) scans to assess bone mineral density, as treatment can be initiated to reduce the risk of bone fractures.
authors.affiliation: 1] Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK [2] Glasgow Centre for Ophthalmic Research, Tennent Institute of Ophthalmology, NHS Greater Glasgow and Clyde, Glasgow, UK.
authors.forename: D F
authors.initials: DF
authors.lastname: Gilmour
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics; D015785:Eye Diseases, Hereditary; D005136:Eye Proteins / Q000235:genetics; D000080345:Familial Exudative Vitreoretinopathies; D051157:Frizzled Receptors / Q000235:genetics; D006801:Humans; D060492:Low Density Lipoprotein Receptor-Related Protein-5 / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D012164:Retinal Diseases / Q000150:complications / Q000235:genetics; D059470:Tetraspanins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D018630:Vitreoretinopathy, Proliferative / Q000150:complications* / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; C402930:FZD4 protein, human; D051157:Frizzled Receptors; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; C545100:TSPAN12 protein, human; D059470:Tetraspanins; D014157:Transcription Factors; C582974:ZNF408 protein, human