Familial exudative vitreoretinopathy (FEVR) associated with infantile osteoporosis: case report
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منابع مشابه
Familial exudative vitreoretinopathy (FEVR) associated with infantile osteoporosis: case report.
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding condition characterized by abnormal development of the retinal vasculature. The authors describe a rare case of the disease associated with severe infantile osteoporosis in a young female patient. The patient was submitted to multiple vitreoretinal procedures in both eyes due to tractional macular detachments. The case was com...
متن کاملLarge Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).
Purpose Familial exudative vitreoretinopathy (FEVR) is a rare, hereditary visual disorder. The gene TSPAN12 is associated with autosomal dominant inheritance of FEVR. The prevalence and impact of large deletions/duplications of TSPAN12 on FEVR patients is unknown. To glean better insight of TSPAN12 on FEVR pathology, herein, we describe three FEVR patients with TSPAN12 deletions. Methods Thir...
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Two families with familial exudative vitreoretinopathy were studied in which platelet aggregation defects were found in all the affected members. The major defect observed was absent platelet aggregation with arachidonic acid. In addition platelet aggregation with collagen and adrenaline was reduced in one severely affected member. The implication of the platelet aggregation defect in the patho...
متن کاملFamilial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variabl...
متن کاملExcessive myopia and anisometropia associated with familial exudative vitreoretinopathy.
BACKGROUND To describe associations between familial exudative vitreoretinopathy (FEVR) and refractive status. METHODS We conducted retrospective studies of patients with clinical diagnoses of familial exudative vitreoretinopathy from June 1986 through September 2000. All patients had cycloplegic refraction, visual acuity with correction, and underwent fundus examination. Ocular history since...
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Oftalmologia
سال: 2009
ISSN: 0004-2749
DOI: 10.1590/s0004-27492009000200026