Unique presentation of congenital cataract concurrent with microcornea, microphthalmia plus posterior capsule defect in monozygotic twins caused by a novel GJA8 mutation
نویسندگان
چکیده
منابع مشابه
A novel mutation in GJA8 causing congenital cataract–microcornea syndrome in a Chinese pedigree
PURPOSE To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DNA extracted from peripheral blood was amplified by polymerase chain reaction (PCR) method and the...
متن کاملcongenital cataract with pre-existing posterior capsule defect
purpose: to evaluate the diagnostic signs, intraoperative complications and postoperative outcomes in children with congenital cataract and pre-existing posterior capsule defect (ppcd). methods: this interventional case series was conducted on 14 eyes of 7 patients who underwent lensectomy-anterior vitrectomy for congenital cataract with ppcd. all children had bilateral cataract. preoperative d...
متن کاملNovel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
PURPOSE The purpose of this study was to estimate the importance of mutations in the connexin50 gene (GJA8) as a cause of congenital or developmental cataracts in the Indian population and to identify novel mutations in GJA8 that cause cataract in this population. METHODS The coding region of GJA8 was analyzed for mutation by single strand conformational polymorphism in 60 probands affected w...
متن کاملA novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
C ataract results from a loss in transparency of the crystalline lens. Worldwide, there are an estimated 20 million people blind (Snellen visual acuity of 3/60 or less) as a result of cataract. Despite effective surgical treatment, demand outstrips supply in both Western and developing countries, for many reasons, 3 and other disease modifying strategies must be considered. A strong genetic pre...
متن کاملCRYBB1 mutation associated with congenital cataract and microcornea.
PURPOSE The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported. METHODS Family history and clinical data were recorded. This phenotype was linked to a 7.6 cM region of chromosome 22q11.2-q12.2, spanning the beta-crystallin gene cluster (ZMax of 3.91 for marker D22S1114 at theta=0). Candidate genes were PCR amplified...
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ژورنال
عنوان ژورنال: Eye
سال: 2018
ISSN: 0950-222X,1476-5454
DOI: 10.1038/s41433-018-0277-y