primary congenital glaucoma
SaudiVarKB evidence summary derived from retained literature mentions.
64Phenotype mentions
64Publications
33Associated gene records
47Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| CYP1B1 | HGNC:2597 | 29 | 29 |
| GLIS3 | HGNC:28510 | 4 | 4 |
| FOXC1 | HGNC:3800 | 4 | 4 |
| MYOC | HGNC:7610 | 4 | 4 |
| LTBP2 | HGNC:6715 | 3 | 3 |
| PAX6 | HGNC:8620 | 2 | 2 |
| SLC4A11 | HGNC:16438 | 1 | 1 |
| APOE | HGNC:613 | 1 | 1 |
| FGFR3 | HGNC:3690 | 1 | 1 |
| AR | HGNC:644 | 1 | 1 |
| MTHFR | HGNC:7436 | 1 | 1 |
| IFIH1 | HGNC:18873 | 1 | 1 |
| PGD | HGNC:8891 | 1 | 1 |
| NOS3 | HGNC:7876 | 1 | 1 |
| PITX2 | HGNC:9005 | 1 | 1 |
| ACVR1 | HGNC:171 | 1 | 1 |
| SLC4A4 | HGNC:11030 | 1 | 1 |
| FOXE3 | HGNC:3808 | 1 | 1 |
| PGAP3 | HGNC:23719 | 1 | 1 |
| KCNV2 | HGNC:19698 | 1 | 1 |
| GNAQ | HGNC:4390 | 1 | 1 |
| KERA | HGNC:6309 | 1 | 1 |
| MEST | HGNC:7028 | 1 | 1 |
| FGFR2 | HGNC:3689 | 1 | 1 |
| SMARCA2 | HGNC:11098 | 1 | 1 |
| TEK | HGNC:11724 | 1 | 1 |
| WDR36 | HGNC:30696 | 1 | 1 |
| NTF4 | HGNC:8024 | 1 | 1 |
| CPAMD8 | HGNC:23228 | 1 | 1 |
| BCO2 | HGNC:18503 | 1 | 1 |
| TULP2 | HGNC:12424 | 1 | 1 |
| DGKQ | HGNC:2856 | 1 | 1 |
| DTHD1 | HGNC:37261 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| G61E | G61E | 4 | 4 |
| p.Gly61Glu | p.Gly61Glu | 3 | 3 |
| p.G61E | p.G61E | 2 | 2 |
| R469W | R469W | 2 | 2 |
| p.Gly61Glu | p.Gly61Glu | 2 | 2 |
| c.144G>T | c.144G>T | 1 | 1 |
| c.649G>A | c.649G>A | 1 | 1 |
| p.S485F | p.S485F | 1 | 1 |
| M161K | M161K | 1 | 1 |
| p.R469W | p.R469W | 1 | 1 |
| rs12997 | rs12997 | 1 | 1 |
| c.9delC | c.9delC | 1 | 1 |
| p.R390S | p.R390S | 1 | 1 |
| c.868dupC | c.868dupC | 1 | 1 |
| p.R390H | p.R390H | 1 | 1 |
| p.L432V | p.L432V | 1 | 1 |
| p.Ser107Leu | p.Ser107Leu | 1 | 1 |
| p.Arg390His | p.Arg390His | 1 | 1 |
| p.E387Lys | p.E387Lys | 1 | 1 |
| p.Val320Leu | p.Val320Leu | 1 | 1 |
| A119S | A119S | 1 | 1 |
| R390H | R390H | 1 | 1 |
| P437L | P437L | 1 | 1 |
| D441G | D441G | 1 | 1 |
| A443G | A443G | 1 | 1 |
| G466S | G466S | 1 | 1 |
| G466D | G466D | 1 | 1 |
| g.4238_4247del | g.4238_4247del | 1 | 1 |
| g.7901_7913del | g.7901_7913del | 1 | 1 |
| R355X | R355X | 1 | 1 |
| R444X | R444X | 1 | 1 |
| D374N | D374N | 1 | 1 |
| c.182G>A | c.182G>A | 1 | 1 |
| c.1103G>A | c.1103G>A | 1 | 1 |
| p.R368H | p.R368H | 1 | 1 |
| p.Glu229Lys | p.Glu229Lys | 1 | 1 |
| p.Arg469Trp | p.Arg469Trp | 1 | 1 |
| E173K | E173K | 1 | 1 |
| N498D | N498D | 1 | 1 |
| G61E | G61E | 1 | 1 |
| g.7900-7901delCG | g.7900-7901delCG | 1 | 1 |
| p.E143X | p.E143X | 1 | 1 |
| p.Y53X | p.Y53X | 1 | 1 |
| p.E80D | p.E80D | 1 | 1 |
| 3987G>A | 3987G>A | 1 | 1 |
| 8405G>A | 8405G>A | 1 | 1 |
| E387K | E387K | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 8 | 8 |
| Saudi Arabia | — | 4 | 4 |
| Saudi Arabia | Cohort 11 | 2 | 2 |
| Population record | — | 1 | 1 |
| Population record | Cohort 43 | 1 | 1 |
| Saudi Arabia | Cohort 64 | 1 | 1 |
| Saudi Arabia | Cohort 54 | 1 | 1 |
| Saudi Arabia | Cohort 2 | 1 | 1 |
| Population record | Cohort 100 | 1 | 1 |
| Population record | Cohort 2 | 1 | 1 |
| Population record | Cohort 12 | 1 | 1 |
| Population record | Cohort 5 | 1 | 1 |
| Population record | Cohort 196 | 1 | 1 |
| Population record | Cohort 4 | 1 | 1 |
| Saudi Arabia | Cohort 32 | 1 | 1 |
| Saudi Arabia | Cohort 25 | 1 | 1 |
| Southern Province | Cohort 25 | 1 | 1 |
| Saudi Arabia | Cohort 11 | 1 | 1 |
| Saudi Arabia | Cohort 25 | 1 | 1 |
| Saudi Arabia | Cohort 17 | 1 | 1 |
| Saudi Arabia | Cohort 5 | 1 | 1 |
| Saudi Arabia | Cohort 21 | 1 | 1 |
| Population record | Cohort 193 | 1 | 1 |
| Saudi Arabia | Cohort 7 | 1 | 1 |
| Saudi Arabia | Cohort 9,000 | 1 | 1 |
| Saudi Arabia · Jeddah | Cohort 91 | 1 | 1 |
| Saudi Arabia | Cohort 1,641 | 1 | 1 |
| Saudi Arabia | Cohort 220 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 217 | 1 | 1 |
| Saudi Arabia | Cohort 361 | 1 | 1 |
| Saudi Arabia | Cohort 34 | 1 | 1 |
| Saudi Arabia · Eastern Province | Cohort 999 | 1 | 1 |
| Saudi Arabia · Jeddah | Cohort 215 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 180 | 1 | 1 |
Supporting publications
64 records- 2026Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.Annals of medicine and surgery (2012)1 mentions
- 2026Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review.International journal of molecular sciences1 mentions
- 2026A Novel Renal Manifestation in GLIS3-Related Disorder in a Pediatric Patient With Cystic Nephroma.Journal of medical cases1 mentions
- 2025Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.Scientific reports1 mentions
- 2025Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.Ophthalmic genetics1 mentions
- 2025GAINSeq: glaucoma pre-symptomatic detection using machine learning models driven by next-generation sequencing data.Scientific reports1 mentions
- 2025Congenital glaucoma prevention program-Evaluation of patient knowledge and acceptance of genetic screening.Journal of genetic counseling1 mentions
- 2025Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.Frontiers in ophthalmology1 mentions
- 2024Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.Case reports in genetics1 mentions
- 2023Genetic heterogeneity of primary open-angle glaucoma in Pakistan.Saudi journal of biological sciences1 mentions
- 2023Prevalence of Risk Factors Among Patients With Glaucoma in Jeddah, Saudi Arabia.Cureus1 mentions
- 2023Unique Roberts syndrome with bilateral congenital glaucoma: A case report.World journal of clinical cases1 mentions
- 2023Adherence to Follow-Up and the Related Factors of Paediatric Glaucoma at a Tertiary Care Centre in Western Saudi Arabia.Cureus1 mentions
- 2022Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) associated with congenital glaucoma: A case report.European journal of ophthalmology1 mentions
- 2022Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.Ophthalmic epidemiology1 mentions
- 2021Risk Factors for Blindness in Children With Primary Congenital Glaucoma-Follow-up of a Registry Cohort.American journal of ophthalmology1 mentions
- 2021Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.European journal of ophthalmology1 mentions
- 2021Profile of Glaucoma in the Eastern Region of Saudi Arabia: A Retrospective Study.Saudi journal of medicine & medical sciences1 mentions
- 2021Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association.Case reports in ophthalmological medicine1 mentions
- 2020Chromosome 1q Terminal Deletion and Congenital Glaucoma: A Case Report.The American journal of case reports1 mentions
- 2020CYP1B1 gene: Implications in glaucoma and cancer.Journal of Cancer1 mentions
- 2020The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu).PloS one1 mentions
- 2019Congenital glaucoma and CYP1B1: an old story revisited.Human genetics1 mentions
- 2019Pathophysiology and management of glaucoma associated with phakomatoses.Journal of neuroscience research1 mentions
- 2019Primary congenital glaucoma: An updated review.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2018Glaucoma With Crouzon Syndrome.Journal of glaucoma1 mentions
- 2018Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.The American journal of case reports1 mentions
- 2018Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin.Clinical ophthalmology (Auckland, N.Z.)1 mentions
- 2017Extended clinical features associated with novel Glis3 mutation: a case report.BMC endocrine disorders1 mentions
- 2017Ophthalmic Manifestations of Congenital Zika Syndrome in Colombia and Venezuela.JAMA ophthalmology1 mentions
- 2017Long-Term Visual Outcomes in Children with Primary Congenital Glaucoma.European journal of ophthalmology1 mentions
- 2017Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.Journal of pediatric genetics1 mentions
- 2017Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2016Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.Ophthalmic genetics1 mentions
- 2016An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).American journal of medical genetics. Part A1 mentions
- 2015A novel CYP1B1 mutation with congenital glaucoma and total aniridia.Ophthalmic genetics1 mentions
- 2014Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype.Ophthalmic genetics1 mentions
- 2014CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.BMC medical genetics1 mentions
- 2013Congenital glaucoma with acquired peripheral circumferential iris degeneration.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2013Primary and secondary congenital glaucoma: baseline features from a registry at King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.American journal of ophthalmology1 mentions
- 2012'Cone dystrophy with supranormal rod response' in children.The British journal of ophthalmology1 mentions
- 2012Magnitude and Causes of Low Vision Disability (Moderate and Severe Visual Impairment) among Students of Al-Noor Institute for the Blind in Al-Hassa, Saudi Arabia: A case series.Sultan Qaboos University medical journal1 mentions
- 2012Visual loss in orbitofacial neurofibromatosis type 1.Ophthalmology1 mentions
- 2012CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2011Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.Molecular vision1 mentions
- 2010Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.Journal of glaucoma1 mentions
- 2010High measured intraocular pressure in children with recessive congenital hereditary endothelial dystrophy.Journal of pediatric ophthalmology and strabismus1 mentions
- 2008Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.Journal of glaucoma1 mentions
- 2008Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.Ophthalmic genetics1 mentions
- 2007A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).Journal of glaucoma1 mentions
- 2006Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.American journal of ophthalmology1 mentions
- 2006Childhood blindness at a school for the blind in Riyadh, Saudi Arabia.Ophthalmic epidemiology1 mentions
- 2006Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.Investigative ophthalmology & visual science1 mentions
- 2006Severe psychogenic visual loss in a girl with siblings blinded from congenital glaucoma.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2004Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.Molecular vision1 mentions
- 2004Molecular basis of Peters anomaly in Saudi Arabia.Ophthalmic genetics1 mentions
- 2003Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?American journal of medical genetics. Part A1 mentions
- 2002A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.Clinical genetics1 mentions
- 2000Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.Human molecular genetics1 mentions
- 1998Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.American journal of human genetics1 mentions
- 1998Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia.Human heredity1 mentions
- 1996A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.Journal of glaucoma1 mentions
- 1995Congenital hereditary endothelial dystrophy associated with glaucoma.Ophthalmology1 mentions
- 1989Trabeculectomy versus trabeculotomy in congenital glaucoma.The British journal of ophthalmology1 mentions