نتایج جستجو برای: familial exudative vitreoretionopathy
تعداد نتایج: 58744 فیلتر نتایج به سال:
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...
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...
Congenital X-linked retinoschisis (CXLRS) is characterized by symmetric bilateral macular involvement, usually beginning in the first decade of life and affecting males. In fundus examination, a wheel pattern developing due to schisis areas observed macula. Fundus examination optical coherence tomography (OCT) are essential for diagnosis early stages disease exhibit characteristic findings. Per...
To the Editors: A male infant born at 36 weeks of gestation with a birth weight of 2,500 grams presented to our department at 37 weeks’ post-conceptional age. The infant was not admitted in any neonatal intensive care unit, had not received oxygen, and did not have a history of neonatal sepsis. He was otherwise healthy. The infant was brought for a retinal check-up because his elder sibling was...
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