Familial exudative vitreoretinopathy associated with familial thrombocytopathy.

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Familial exudative vitreoretinopathy associated with familial thrombocytopathy.

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...

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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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Excessive 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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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...

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familial exudative vitreoretinopathy

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...

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ژورنال

عنوان ژورنال: British Journal of Ophthalmology

سال: 1983

ISSN: 0007-1161

DOI: 10.1136/bjo.67.11.755