familial exudative vitreoretinopathy
نویسندگان
چکیده
purpose: to report a relatively rare case of familial exudative vitreoretinopathy (fevr). patient and findings: a 13-year-old boy referred with decreased visual acuity of both eyes, specially right eye from 6 years ago. he had several ophthalmologist and optometrist visits and spectacle prescription without any improvement of vision. best corrected visual acuity (bcva) was 25 cm of count finger in right eye and 10/10 in left eye. right eye had +2 apd without positive finding on slit-lamp examination. blurred optic disk margin with large and diffuse exudate involing macular region and avascular zone, especially on temporal side with fibrovascular tissue between avascular zone were detected on funduscopy in the right eye. following several laboratory examination, diagnosis of fevr was determined and patient underwent full panretinal photocoagulation. conclusion: early detection of fevr plays an important role on preventing the progression of the diseases and improving the vision of patient and his/her family.
منابع مشابه
Familial 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...
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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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متن کاملFamilial exudative vitreoretinopathy presentation as persistent fetal vasculature
PURPOSE To illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that can be mistaken for unilateral persistent fetal vasculature (PFV) and the importance of wide angle fluorescein angiography in making this distinction. A patient was referred with a unilateral retrolental membrane and retinal detachment from PFV but was found to have FEVR. OBSERVATIONS A 4 month-old full-t...
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عنوان ژورنال:
بیناجلد ۱۱، شماره ۲، صفحات ۲۵۳-۲۵۶
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