Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Advances in Ophthalmology and OptometryAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- The risk of cataract among survivors of childhood and adolescent cancer: a report from the Childhood Cancer Survivor Study.Radiat Res. 2016; 185: 366-374
- Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK.Invest Ophthalmol Vis Sci. 2001; 42: 1444-1448
- The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.Ophthalmology. 2019; 126: 888-907
- Clinical spectrum and genetic diagnosis of 54 consecutive patients aged 0-25 with bilateral cataracts.Genes. 2021; 12: 1-11
- Epidemiology and molecular genetics of congenital cataracts.Int J Ophthalmol. 2011; 4: 422-432
- Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.Eye (Lond). 2016; 30: 1175-1181
- Next-generation sequencing in the diagnosis of metabolic disease marked by pediatric cataract.Ophthalmology. 2016; 123: 217-220
- Genetics of congenital cataract.Dev Ophthalmol. 2016; 57: 1-14
- Biological glass: structural determinants of eye lens transparency.Philos Trans R Soc Lond B Biol Sci. 2011; 366: 1250-1264
- Congenital cataracts and their molecular genetics.Semin Cell Dev Biol. 2008; 19: 134-149
- Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.BMC Med Genet. 2019; 20: 14
- Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex.Am J Hum Genet. 2018; 103: 777-785
- Alpha-crystallin: a review of its structure and function.Clin Exp Optom. 2004; 87: 356-366
- Molecular genetics of cataract.Prog Mol Biol Translational Sci. 2015; 134: 203-218
- Insights into the beaded filament of the eye lens.Exp Cell Res. 2007; 313: 2180-2188
- Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1).Mol Biol Cell. 2003; 14: 2470-2481
- Connexin mutants and cataracts.Front Pharmacol. 2013; 4: 43
- Focus on lens connexins.BMC Cel Biol. 2017; 18: 6
- Mutations and mechanisms in congenital and age-related cataracts.Exp Eye Res. 2017; 156: 95-102
- Aquaporin water channels: unanswered questions and unresolved controversies.Curr Opin Cell Biol. 1995; 7: 472-483
- Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2.Invest Ophthalmol Vis Sci. 2007; 48: 500-508
- Cat-Map: putting cataract on the map.Mol Vis. 2010; 16: 2007-2015
- EPHA2 mutations contribute to congenital cataract through diverse mechanisms.Mol Vis. 2016; 22: 18-30
- Bi-allelic loss-of-function variants in DNMBP cause infantile cataracts.Am J Hum Genet. 2018; 103: 568-578
- EPHA2 Segregates with microphthalmia and congenital cataracts in two unrelated families.Int J Mol Sci. 2021; 22: 1-14
- Human cataract mutations in EPHA2 SAM domain alter receptor stability and function.PLoS ONE. 2012; 7: e36564
- Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Hum Mutat. 2018; 39: 471-494
- Homeodomain protein Pitx3 maintains the mitotic activity of lens epithelial cells.Mech Dev. 2009; 126: 18-29
- Congenital cataract and multisystem disorders.Eye. 1999; 13: 464-473
- Health supervision for children with Down syndrome.Pediatrics. 2011; 128: 393-406
- Two new mutations in exon 3 of theNDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.Hum Mutat. 1997; 9: 53-56
- X-linked cataract and Nance-Horan syndrome are allelic disorders.Hum Mol Genet. 2009; 18: 2643-2655
- The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.Hum Mol Genet. 2010; 19: 2421-2432
- The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.Clin Genet. 2008; 26: 30-35
- Myotonic dystrophy type 1: frequency of ophthalmologic findings.Arquivos de Neuro-Psiquiatria. 2016; 74: 183-188
- Myotonic dystrophy.Neurol Clin. 2014; 32: 705-719
- Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.Acta Otorhinolaryngol Ital. 2016; 36: 345-367
- A unified nomenclature for peroxisome biogenesis factors.J Cell Biol. 1996; 135: 1-3
- Zellweger spectrum disorders: clinical overview and management approach.Orphanet J Rare Dis. 2015; 10: 151
- Repair of oxidatively generated DNA damage in Cockayne syndrome.Mech Ageing Dev. 2013; 134: 253-260
- Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.J Biol Chem. 1991; 266: 7779-7783
- Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.Orphanet J Rare Dis. 2014; 9: 179
- Sweet and sour: an update on classic galactosemia.J Inherit Metab Dis. 2017; 40: 325-342
- Pediatric cataract.Indian J Ophthalmol. 2017; 65: 1340
- Galactose and cataract.Surv Ophthalmol. 1988; 32: 333-349
- Hereditary galactosemia.Metabolism. 2018; 83: 188-196
- Infectious agents in congenital cataract in a tertiary care referral center in North India.Diagn Microbiol Infect Dis. 2016; 85: 477-481
- How to use… neonatal TORCH testing.Arch Dis Child Educ Pract Ed. 2013; 98: 93-98
- TORCH testing in non-familial paediatric cataract.Eye. 2016; 30: 1275-1276
- Epidemiology and intermediate-term outcomes of open- and closed-globe injuries in traumatic childhood cataract.Eur J Ophthalmol. 2014; 24: 124-130
- Degree, duration, and causes of visual loss in uveitis.Br J Ophthalmol. 2004; 88: 1159-1162
- What causes steroid cataracts? A review of steroid-induced posterior subcapsular cataracts.Clin Exp Optom. 2002; 85: 61-75
- Update on congenital cataract surgery management.Curr Opin Ophthalmol. 2017; 28: 87-92
- Intraocular lens implantation during early childhood.Ophthalmology. 2019; 126: 1454-1461
- The infant aphakia treatment study contact lens experience to age 5 years.Eye Contact Lens. 2017; 43: 352-357
Scientific Department TRC of O. Cataract Surgery Guidelines.; 2010.
- Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.NPJ Genomic Med. 2018; 3: 16
- Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genet Med. 2020; 22: 745-751
- A newly developed web-based resource on genetic eye disorders for users with visual impairment (Gene.Vision): usability study.J Med Internet Res. 2021; 23: e19151
Article info
Publication history
Published online: June 29, 2022
Identification
Copyright
© 2022 Elsevier Inc. All rights reserved.
