Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing
نویسندگان
چکیده
منابع مشابه
TGFBI gene mutations in a Korean population with corneal dystrophy
PURPOSE To investigate the clinical and genetic features of Korean patients with corneal dystrophies associated with mutations in the human transforming growth factor-β-induced (TGFBI) gene. METHODS In this study, 387 subjects (71 families and 89 individuals - 268 patients having TGFBI corneal dystrophies and 119 normal relatives) were assessed. All subjects underwent a complete ophthalmologi...
متن کاملTwo cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene.
1. Shields JA, Shields CL, Ehya H, Eagle RC, De Potter P. Fine-needle aspiration biopsy of suspected intraocular tumors: the 1992 Urwick Lecture. Ophthalmology. 1993;100: 1677-1684. 2. Collaborative Ocular Melanoma Study Group. Accuracy of diagnosis of choroidal melanomas in the Collaborative Ocular Melanoma Study: COMS report No. 1. Arch Ophthalmol. 1990;108:1268-1273. 3. Schyberg E. Fine need...
متن کاملMolecular genetics of Chinese families with TGFBI corneal dystrophies
PURPOSE To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2). METHODS Clinical features of GCD1 and GCD2 in three Chinese families were studied with slit-lamp and in vivo laser scanning confocal microscopy (LSCM). Molecul...
متن کاملH626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people.
BACKGROUND/AIMS Mutations of the human transforming growth factor beta induced gene (TGFBI) were reported to cause lattice corneal dystrophy (LCD) in various nationalities. This study analysed the TGFBI gene in Vietnamese people with LCD. METHODS 13 unrelated families, including 34 patients and 21 unaffected members were examined. 50 normal Vietnamese people served as controls. Blood samples ...
متن کاملArg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
AIM To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD, also known as GCD3). METHODS In a five-generation Chinese family, eight members were identified with RBCD and the rest were unaffected. All members of the family underwent complete ophthalmologic examinations. Exons of TGFBI were amplified by polym...
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ژورنال
عنوان ژورنال: Eye
سال: 2019
ISSN: 0950-222X,1476-5454
DOI: 10.1038/s41433-019-0346-x