Congenital cataract: An ocular manifestation of classical homocystinuria
Molecular Genetics & Genomic Medicine, 2021 Background Homocystinuria is an autosomal recessive metabolic disorder occurring due to the defects in cystathionine‐β‐synthase enzyme. The study was carried out to investigate a Pakistani family presenting bilateral congenital cataract with symptoms of ...
Neelam Saba, Saba Irshad
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Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]
, 2018 Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico +10 more
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Cirurgia de catarata congênita com implante de lente intraocular em olhos microftálmicos: resultados visuais e complicações [PDF]
, 2013 PURPOSE: To report the visual outcomes and complications of congenital cataract surgery with primary intraocular lens implantation in microphthalmic eyes of children younger than 4 years of age.
Nosé, Walton +4 more
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European Journal of Therapeutics, 2010 Congenital cataract has a high amblyogenic potential and is an important subject in pediatric opthalmology. Because of amblyopia risk, congenital cataracts require an early diagnosis.Bilateral congenital cataract is genetic in at least 25% of cases. In contrast, unilateral congenital cataract is usually sporadic.
Oğuzhan Saygılı +3 more
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A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family
Indian Journal of Ophthalmology, 2016 Background: Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of ...
Juan Bu +5 more
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A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
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Delta Journal of OphthalmologyAim The aim of this study was to describe the anterior chamber angle in congenital cataract cases by using a hand-held anterior segment optical coherence tomography (HH-ASOCT) and to compare it to normal age-matched controls.
Pola S. Soliman +5 more
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Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]
, 2003 BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F. +5 more
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Journal of Ophthalmology, 2017 Purpose. To investigate the ocular features of children with congenital cataract in a tertiary referral eye center in East China. Methods. We retrospectively reviewed the clinical data of congenital cataract children who underwent cataract surgery ...
Wenwen He +6 more
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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome) [PDF]
, 2017 Published online: 08 May 2017Background: Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son.
Burdon, K. +7 more
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