congenital cataract
SaudiVarKB evidence summary derived from retained literature mentions.
149Phenotype mentions
100Publications
50Associated gene records
48Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| CRYAB | HGNC:2389 | 5 | 5 |
| CRYBB1 | HGNC:2397 | 4 | 4 |
| CYP51A1 | HGNC:2649 | 3 | 3 |
| CYP27A1 | HGNC:2605 | 2 | 2 |
| FYCO1 | HGNC:14673 | 2 | 2 |
| PAX6 | HGNC:8620 | 2 | 2 |
| LAMB2 | HGNC:6487 | 2 | 2 |
| PEX7 | HGNC:8860 | 2 | 2 |
| RIC1 | HGNC:17686 | 2 | 2 |
| LONP1 | HGNC:9479 | 2 | 2 |
| PITX3 | HGNC:9006 | 2 | 2 |
| GEMIN4 | HGNC:15717 | 2 | 2 |
| RNLS | HGNC:25641 | 2 | 2 |
| GCNT2 | HGNC:4204 | 2 | 2 |
| AGK | HGNC:21869 | 2 | 2 |
| BFSP2 | HGNC:1041 | 2 | 2 |
| CRYAA | HGNC:2388 | 2 | 2 |
| WDR87 | HGNC:29934 | 2 | 2 |
| AKR1E2 | HGNC:23437 | 2 | 2 |
| AIDA | HGNC:25761 | 1 | 1 |
| FGFR3 | HGNC:3690 | 1 | 1 |
| CD40 | HGNC:11919 | 1 | 1 |
| GLA | HGNC:4296 | 1 | 1 |
| COL18A1 | HGNC:2195 | 1 | 1 |
| RAB3GAP2 | HGNC:17168 | 1 | 1 |
| ATP7B | HGNC:870 | 1 | 1 |
| G6PD | HGNC:4057 | 1 | 1 |
| EPG5 | HGNC:29331 | 1 | 1 |
| AGL | HGNC:321 | 1 | 1 |
| ABCB1 | HGNC:40 | 1 | 1 |
| LDLR | HGNC:6547 | 1 | 1 |
| GUCY2D | HGNC:4689 | 1 | 1 |
| BRAF | HGNC:1097 | 1 | 1 |
| SPAST | HGNC:11233 | 1 | 1 |
| ASPM | HGNC:19048 | 1 | 1 |
| ATP8B1 | HGNC:3706 | 1 | 1 |
| GNPAT | HGNC:4416 | 1 | 1 |
| TELO2 | HGNC:29099 | 1 | 1 |
| EGFR | HGNC:3236 | 1 | 1 |
| GALT | HGNC:4135 | 1 | 1 |
| FAR1 | HGNC:26222 | 1 | 1 |
| SLC26A3 | HGNC:3018 | 1 | 1 |
| FBN1 | HGNC:3603 | 1 | 1 |
| NOD2 | HGNC:5331 | 1 | 1 |
| AGPS | HGNC:327 | 1 | 1 |
| PRG4 | HGNC:9364 | 1 | 1 |
| TSPAN12 | HGNC:21641 | 1 | 1 |
| STX3 | HGNC:11438 | 1 | 1 |
| CD44 | HGNC:1681 | 1 | 1 |
| PEX5 | HGNC:9719 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.171del | c.171del | 1 | 1 |
| c.2206C>T | c.2206C>T | 1 | 1 |
| c.315T>A | c.315T>A | 1 | 1 |
| p.Cys105Ter | p.Cys105Ter | 1 | 1 |
| c.980C>G | c.980C>G | 1 | 1 |
| c.4751T>A | c.4751T>A | 1 | 1 |
| p.W577C | p.W577C | 1 | 1 |
| G894T | G894T | 1 | 1 |
| c.1369-1G>C | c.1369-1G>C | 1 | 1 |
| p.Ile120Thr | p.Ile120Thr | 1 | 1 |
| IVS3 | IVS3 | 1 | 1 |
| c.2232delG | c.2232delG | 1 | 1 |
| c.903del | c.903del | 1 | 1 |
| c.619T>C | c.619T>C | 1 | 1 |
| p.Ser207Pro | p.Ser207Pro | 1 | 1 |
| c.233G>A | c.233G>A | 1 | 1 |
| p.G78D | p.G78D | 1 | 1 |
| p.Arg89Gln | p.Arg89Gln | 1 | 1 |
| c.493G>C | c.493G>C | 1 | 1 |
| p.Gly165Arg | p.Gly165Arg | 1 | 1 |
| c.34C>T | c.34C>T | 1 | 1 |
| p.R12C | p.R12C | 1 | 1 |
| c.31C>T | c.31C>T | 1 | 1 |
| p.R11C | p.R11C | 1 | 1 |
| c.122A>G | c.122A>G | 1 | 1 |
| p.E41G | p.E41G | 1 | 1 |
| rs13053109 | rs13053109 | 1 | 1 |
| rs3761382 | rs3761382 | 1 | 1 |
| rs7278468 | rs7278468 | 1 | 1 |
| rs13051039 | rs13051039 | 1 | 1 |
| c.2129C>T | c.2129C>T | 1 | 1 |
| p.Ala710Val | p.Ala710Val | 1 | 1 |
| c.171del | c.171del | 1 | 1 |
| p.N58Tfs | p.N58Tfs | 1 | 1 |
| P23T | P23T | 1 | 1 |
| p.P23T | p.P23T | 1 | 1 |
| c.292delC | c.292delC | 1 | 1 |
| c.4055A>G | c.4055A>G | 1 | 1 |
| p.Glu1352Gly | p.Glu1352Gly | 1 | 1 |
| c.608delC | c.608delC | 1 | 1 |
| R112L | R112L | 1 | 1 |
| C311S | C311S | 1 | 1 |
| G148A | G148A | 1 | 1 |
| C133A | C133A | 1 | 1 |
| W581R | W581R | 1 | 1 |
| G588S | G588S | 1 | 1 |
| p.R56W | p.R56W | 1 | 1 |
| c.1320dupC | c.1320dupC | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026Intraocular Lens Opacification in a Patient With Gyrate Atrophy With a Subluxated Intraocular Lens.The American journal of case reports1 mentions
- 2026Prevalence of visual impairment, ocular trauma, and ocular disorders among conflict-affected and displaced populations: a systematic review and meta-analysis.Conflict and health1 mentions
- 2026The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis.Journal of clinical medicine1 mentions
- 2026Comprehensive Modalities for Cataract Management: Preventive, Surgical, and Non-Surgical Approaches Using Conventional and Nanotechnology-Based Therapies.AAPS PharmSciTech1 mentions
- 2026Nanoparticle-mediated targeted delivery of lutein for retinal protection: emerging strategies in ocular drug targeting.Naunyn-Schmiedeberg's archives of pharmacology1 mentions
- 2025Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).Genetics and molecular biology1 mentions
- 2025Prevalence, Causes, and Risk Factors Associated with Visual Impairment in Qbah, a Rural Community in the Qassim Region of Saudi Arabia.Healthcare (Basel, Switzerland)1 mentions
- 2025An outbreak of Pseudomonas aeruginosa endophthalmitis following cataract surgery: a case series and lessons learned.Journal of surgical case reports1 mentions
- 2025Visual impairment and blindness in Alkharj, Saudi Arabia.JPMA. The Journal of the Pakistan Medical Association1 mentions
- 2025Optical properties of artificial intraocular lenses and considerations for additive manufacturing.Frontiers in medicine1 mentions
- 2025Safety and Efficacy of Preserflo Microshunt in Different Subtypes of Glaucoma.Clinical ophthalmology (Auckland, N.Z.)1 mentions
- 2025Incidence and Predictors of Ocular Complications in Pediatric-Onset Uveitis: Data from the AIDA Network Uveitis Registry.Ophthalmology and therapy1 mentions
- 2025Prevalence, burden, and determinants of visual impairment and blindness among adults in Saudi Arabia: a comprehensive systematic review and meta-analysis.BMC ophthalmology1 mentions
- 2024Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.Ophthalmology. Retina1 mentions
- 2024Profile of a large cohort of children with persistent fetal vasculature and their predictors of poor visual outcome in a tertiary eye hospital in Saudi Arabia.European journal of ophthalmology1 mentions
- 2024Genome-wide identification of the alkaloid synthesis gene family CYP450, gives new insights into alkaloid resource utilization in medicinal Dendrobium.International journal of biological macromolecules1 mentions
- 2024Knowledge and Awareness Regarding Amblyopia Among Parents in Riyadh, Saudi Arabia: A Cross-Sectional Study.Cureus1 mentions
- 2024The Effects of Cataract Surgery on Children's Vision: A Systematic Review.Journal of pharmacy & bioallied sciences1 mentions
- 2024Knowledge and Attitudes Regarding Cataracts and Their Associated Factors Among Hail Region Residents in Saudi Arabia.Cureus1 mentions
- 2024Cataract and glaucoma detection based on Transfer Learning using MobileNet.Heliyon1 mentions
- 2024Perceptions and Misconceptions About Eye Disease Treatment: A Cross-Sectional Study From Jazan, Saudi Arabia.Cureus1 mentions
- 2023Congenital Aniridia and Ocular motility.American journal of ophthalmology1 mentions
- 2023TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.American journal of medical genetics. Part A1 mentions
- 2023Impact of topographic hot spots on the refractive outcomes of combined DMEK and cataract surgery.Journal of cataract and refractive surgery1 mentions
- 2023Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.Human genomics1 mentions
- 2023Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome.Case reports in ophthalmology1 mentions
- 2023Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract.Life (Basel, Switzerland)1 mentions
- 2022A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.European journal of ophthalmology1 mentions
- 2022Parents' Awareness and Perception of Children's Eye Diseases in Madinah, Saudi Arabia: A Cross-Sectional Study.Cureus1 mentions
- 2022Association of single nucleotide polymorphism variations in CRYAA and CRYAB genes with congenital cataract in Pakistani population.Saudi journal of biological sciences1 mentions
- 2022An Extremely Rare Case of Bonneau Syndrome with Novel Cardiac and Eye Manifestations.Saudi journal of medicine & medical sciences1 mentions
- 2022Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.American journal of medical genetics. Part A1 mentions
- 2022A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.Frontiers in cell and developmental biology1 mentions
- 2022A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.Cureus1 mentions
- 2022Co-Occurring Atypical Galactosemia and Wilson Disease.Molecular syndromology1 mentions
- 2021A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.Ophthalmic genetics1 mentions
- 2021Protection of ζ-crystallin by α-crystallin under thermal stress.International journal of biological macromolecules1 mentions
- 2021Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.Journal of inherited metabolic disease1 mentions
- 2021Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.Ophthalmic genetics1 mentions
- 2021Assessing knowledge and practice about eye injuries first aid, with awareness about the importance of early management among general population in Asser Region, 2020.Journal of family medicine and primary care1 mentions
- 2021A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology1 mentions
- 2021Ocular manifestations in children with developmental delay at a tertiary center in South India.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2021Choroidal hemangioma in Sturge Weber syndrome: Case series with confirmed tissue diagnosis.International journal of surgery case reports1 mentions
- 2021Cataract Disease Detection by Using Transfer Learning-Based Intelligent Methods.Computational and mathematical methods in medicine1 mentions
- 2021Manifestation of Panuveitis after Intraocular Surgery in a Child with Blau Syndrome.Middle East African journal of ophthalmology1 mentions
- 2020Visual impairment among adults in Saudi Arabia.Clinical & experimental optometry1 mentions
- 2020Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.Nature medicine1 mentions
- 2020Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2020Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.The American journal of case reports1 mentions
- 2020Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.Human molecular genetics1 mentions
- 2020Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.Medicine1 mentions
- 2019Magrabi ICO Cameroon Eye Institute, Yaoundé, Cameroon: Ophthalmology Subspecialty Patient Care and Training Center in Central Africa.American journal of ophthalmology1 mentions
- 2019Association of PON2 and PON3 polymorphism with risk of developing cataract.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2019Case Report of a 4-Year-Old Child with Complicated Vogt-Koyanagi-Harada at a Tertiary Eye Hospital.Middle East African journal of ophthalmology1 mentions
- 2019Causes of blindness in a pediatric age group at a tertiary healthcare center in the eastern province of Saudi Arabia.Saudi medical journal1 mentions
- 2019Adults visual impairment and blindness - An overview of prevalence and causes in Saudi Arabia.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2018A new association between CDK5RAP2 microcephaly and congenital cataracts.Annals of human genetics1 mentions
- 2018KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.American journal of human genetics1 mentions
- 2018Visual Outcomes and Refractive Status after Combined Silicone Oil Removal/Cataract Surgery with Intraocular Lens Implantation.Journal of ophthalmic & vision research1 mentions
- 2018Clinical features of LONP1-related infantile cataract.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2018Glaucoma With Crouzon Syndrome.Journal of glaucoma1 mentions
- 2018Inhibition of C298S mutant of human aldose reductase for antidiabetic applications: Evidence from in silico elementary mode analysis of biological network model.Journal of cellular biochemistry1 mentions
- 2018Magnitude of visual impairment, blindness and causes in the southwest region of São Paulo state, Brazil.Arquivos brasileiros de oftalmologia1 mentions
- 2018Role of diagnostic factors associated with antioxidative status and expression of matrix metalloproteinases (MMPs) in patients with cancer therapy induced ocular disorders.Saudi journal of biological sciences1 mentions
- 2017Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.Human genetics1 mentions
- 2017Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.Annals of clinical and laboratory science1 mentions
- 2017Cataract surgical rate in Yemen: 2012.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2017Nutraceuticals in prevention of cataract - An evidence based approach.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2017A novel mutation and in vivo confocal microscopic findings in Fabry disease.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2017Prevalence and causes of visual impairment among Saudi adults.Pakistan journal of medical sciences1 mentions
- 2017Spectral and thermal properties of novel eye lens ζ-crystallin.International journal of biological macromolecules1 mentions
- 2017Changing patterns of cataract services in North-West Nigeria: 2005-2016.PloS one1 mentions
- 2016Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.Human genetics1 mentions
- 2016Corticosteroid implants for chronic non-infectious uveitis.The Cochrane database of systematic reviews1 mentions
- 2016Resveratrol and Ophthalmic Diseases.Nutrients1 mentions
- 2016A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.PloS one1 mentions
- 2016Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.BMC genomics1 mentions
- 2016Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.BMC medical genetics1 mentions
- 2016KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.Journal of medical genetics1 mentions
- 2016Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.PloS one1 mentions
- 2016Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.PloS one1 mentions
- 2016Pros and cons of immediately sequential bilateral cataract surgery (ISBCS).Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2016Safety of Simultaneous Bilateral Intraocular Surgery Under General Anesthesia in Pediatric Patients.Saudi journal of medicine & medical sciences1 mentions
- 2015Effect of lens status in the surgical success of 23-gauge primary vitrectomy for the management of rhegmatogenous retinal detachment: the Pan American Collaborative Retina Study (PACORES) group results.Retina (Philadelphia, Pa.)1 mentions
- 2015Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.Clinical genetics1 mentions
- 2015Uveitis in Behçet disease in a tertiary center over 25 years: the KKESH Uveitis Survey Study Group.American journal of ophthalmology1 mentions
- 2015Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.Ophthalmic genetics1 mentions
- 2015A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.Ophthalmic genetics1 mentions
- 2015Rapid assessment of avoidable blindness and diabetic retinopathy in Republic of Moldova.The British journal of ophthalmology1 mentions
- 2015Impact of cataract surgery in reducing visual impairment: a review.Middle East African journal of ophthalmology1 mentions
- 2015Prevalence of blindness and diabetic retinopathy in northern Jordan.European journal of ophthalmology1 mentions
- 2015Prevalence and causes of blindness and diabetic retinopathy in Southern Saudi Arabia.Saudi medical journal1 mentions
- 2015Lanosterol reverses protein aggregation in cataracts.Nature1 mentions
- 2015Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.PloS one1 mentions
- 2015Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).Transactions of the American Ophthalmological Society1 mentions
- 2015A Population-based survey of the prevalence and types of glaucoma in Nigeria: results from the Nigeria National Blindness and Visual Impairment Survey.BMC ophthalmology1 mentions
- 2014Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2014Intraocular pressure elevation after uncomplicated pars plana vitrectomy: results of the Pan American Collaborative Retina Study Group.Retina (Philadelphia, Pa.)1 mentions
- 2014Prevalence of visual impairment and blindness in Upper Egypt: a gender-based perspective.Ophthalmic epidemiology1 mentions
- 2014Peripheral ulcerative keratitis: Our challenging experience.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions