Familial exudative retinopathy TSPAN12 positive presenting as bilateral retinal stalks: late structural and functional findings
نویسندگان
چکیده
منابع مشابه
Large 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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We describe the case of a 70-year-old male patient with ethmoid sinus adenocarcinoma who developed an exudative retinal detachment (ERD) in the right eye as the first manifestation. Two weeks after presentation, total regression of the ERD was noted. Extensive investigations for local causes of ERD were unrewarding. Finally, we performed a computed tomography scanning of the head that revealed ...
متن کاملAdvanced Ethmoid Sinus Adenocarcinoma Presenting as Temporary Exudative Retinal Detachment
We describe the case of a 70-year-old male patient with ethmoid sinus adenocarcinoma who developed an exudative retinal detachment (ERD) in the right eye as the first manifestation. Two weeks after presentation, total regression of the ERD was noted. Extensive investigations for local causes of ERD were unrewarding. Finally, we performed a computed tomography scanning of the head that revealed ...
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PURPOSE Mutations in tetraspanin 12 (TSPAN12) have recently been identified as a cause of autosomal dominant familial exudative vitreoretinopathy (FEVR). The purpose of this study was to detect TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes. METHODS Sanger sequencing was used to analyze the seven coding exons and their adjacent regions of TSPAN12 in ...
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The HELLP syndrome is a pregnancy complication, life-threatening for mother and child, characterized by hypertension, elevated liver enzymes and low platelets. Blurred vision is the most common visual complaint. A rare case of bilateral exudative retinal detachment associated with the HELLP syndrome is described in a 30-year-old Caucasian woman at 33 weeks' gestation. The retinal detachment did...
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ژورنال
عنوان ژورنال: American Journal of Ophthalmology Case Reports
سال: 2019
ISSN: 2451-9936
DOI: 10.1016/j.ajoc.2019.100480