Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy
نویسندگان
چکیده
منابع مشابه
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...
متن کاملFamilial 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...
متن کاملTargeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy
PURPOSE Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese familie...
متن کاملFamilial exudative vitreoretinopathy presentation as persistent fetal vasculature
PURPOSE To illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that can be mistaken for unilateral persistent fetal vasculature (PFV) and the importance of wide angle fluorescein angiography in making this distinction. A patient was referred with a unilateral retrolental membrane and retinal detachment from PFV but was found to have FEVR. OBSERVATIONS A 4 month-old full-t...
متن کاملfamilial 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: Genetics in Medicine
سال: 2019
ISSN: 1098-3600,1530-0366
DOI: 10.1038/s41436-019-0571-5