congenital cataract
Glaucoma following congenital cataract surgery – the role of early surgery and posterior capsulotomy
... lated congenital cataract were incorporated into the ...with cataract associated with anterior segment dysgenesis, microcornea/microphthalmia, persistent fetal vasculature, trauma, connective tissue ...
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Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies
... bilateral congenital cataract, developmental delay and later demyelinating ...bilateral congenital cataract should be of- fered DNA testing for the CCFDN founder ...Newborn cataract ...
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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé Gripp syndrome)
... progressive cataract of cortical pulverulent opacities with anterior and posterior sutural densities, anterior segment dysgenesis and microphthalmia associated with the cytogenetically balanced chromosome ...
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Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family
... Results: A known missense mutation, c. 139G > A (p. D47N), in Cx50 was identified. This mutation co-segregated with all affected individuals and was not observed in the unaffected family members or in 100 unrelated ...
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Original Article Effect of EPHA2 gene mutation on congenital cataract and its underlying mechanism
... the congenital or acquired reasons. Actually, the congenital cataract is the leading cause for blindness in children ...of congenital cataracts is related to the changes of the genes ...of ...
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Original Article The novel affiliation treatment for children with deprivation amblyopia after congenital cataract surgery
... Congenital cataract, characterized by visual deprivation and formation of amblyopia, is an important, treatable cause of childhood visual handicap throughout the ...genital cataract is the most ...
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Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation
... Among genes encoding for membrane proteins (MIP), LIM2 gene (lens intrinsic membrane protein-2) involved in autosomal recessive congenital cataract [7,8]. It encodes an abundant integral lens membrane ...
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The Corneal Endothelium in Children after Congenital Cataract Surgery—A Comparison of Pre and Post Operative Results
... with congenital cataract does not show statistically significant changes in the density and the morphology of the corneal endothelial cells and the thickness of the cornea and in terms of corneal thickness ...
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Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder
... with congenital cataract, slowly progressive neurologic impairment, and diffuse white matter abnormalities on MR ...the congenital cataract was total in 6 ...
5
Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract
... to congenital cataracts, we sought to identify early post-twinning mutational and epigenetic events that may account for the discordant phenotypes of a twin ...a congenital cataract and her twin ...
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Different alpha crystallin expression in human age-related and congenital cataract lens epithelium
... and congenital cataract groups compared with the normal control ...age-related cataract group, the gene expression was approximately ...the congenital cataract group was ...the ...
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Original Article Targeted exome sequencing identified a novel GJA3 gene missense mutation causes autosomal dominant congenital cataract in a large Chinese family
... Congenital cataract is known as a major causa- tion of children impairment of vision or blind- ...genital cataract, lens opacities and childhood onset, congenital cataract has negative ...
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Improving diagnosis for congenital cataract by introducing NGS genetic testing
... A retrospective case note review was undertaken of 29 consecutive paediatric patients aged 10 years and under identi fi ed through the paediatric ophthalmic surgical list at the Manchester Royal Eye Hospital (MREH) from ...
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Case Report Rare case of congenital ocular disease with low intelligence level and extremity abnormalities in two siblings
... keratoconus (kC) is characterized by apical and paracentral thinning of the cornea. Some associations may point towards a common genetically determined cause; others may potentially cause corneal ectasia by recurrent ...
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A familial study of Hallermann–Streiff–François syndrome
... a cataract screening campaign for the management of a particular congenital cataract associated to other character- istic features of Hallermann–Streiff–François ...
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Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract
... lamellar cataract with variable sever- ity is starting to emerge in the literature for CRYAA ...in congenital cataract patients with a variety of cataract phenotypes including lamellar ...
8
Outcome of training of maternal and child health workers in Ifo Local Government Area, Ogun State, Nigeria, on common childhood blinding diseases: a pre test, post test, one group quasi experimental study
... congenital cataract, congenital glaucoma and newborn con- junctivitis from colored ...injury, congenital cataract congenital glaucoma, and newborn conjunctivitis) as well as ...
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Outcome of Strabismus in Children with Cataracts
... undergoing cataract extraction with or without intraocular lens (IOL) ...had congenital cataract; 18 (33%) had acquired ...at cataract surgery was ...after cataract surgery, 39 (72%) ...
5
The epidemiology of congenital and infantile cataract in the United Kingdom
... National congenital malformation monitoring systems and registers exist in many countries and mainly rely on passive notifications at birth or discharge from ...f congenital cataract have been ...
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Clinical and genetic heterogeneity of human cataract
... with congenital cataract about the risk to their offspring, it is again important to review other relatives and where possible examine clinical records to exclude any syndromic forms of cataract or ...
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