نتایج جستجو برای: familial exudative vitreoretionopathy

تعداد نتایج: 58744  

Journal: :Arquivos brasileiros de oftalmologia 2009
Laurentino Biccas Neto Arthur Silva de Mesquita Iuri Drumond Louro

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...

Journal: :Investigative ophthalmology & visual science 2016
Soo Hyun Seo Man Jin Kim Sung Wook Park Jeong Hun Kim Young Suk Yu Ji Yun Song Sung Im Cho Joo Hyun Ahn Yeon Hee Oh Jee-Soo Lee Seungjun Lee Moon-Woo Seong Sung Sup Park Ji Yeon Kim

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...

Journal: :Güncel retina 2023

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...

Journal: :Journal of pediatric ophthalmology and strabismus 2015
Rohan Chawla Ravi Bypareddy Parijat Chandra Rajpal Vohra

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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