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5 records shown · first 60Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review.
PMID 42074148 | PMCID PMC13116526 | DOI 10.3390/ijms27083506 · International journal of molecular sciences · 2026 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |
Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin.
PMID 30127590 | PMCID PMC6089601 | DOI 10.2147/OPTH.S169943 · Clinical ophthalmology (Auckland, N.Z.) · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “We screened unrelated POAG cases and healthy controls for mutations in CYP1B1 using automated Sanger sequencing to identify five known polymorphisms and one CYP1B1 mutation (p.G61E) in a heterozygous status.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin.” | 0.98 | hgnc_dict_v1 |
| phenotype | primary congenital glaucoma | “CYP1B1 mutations have been associated primarily with primary congenital glaucoma (PCG).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin. These findings suggest that CYP1B1 may have no major role in the pathogenesis of POAG, at least, in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.
PMID 24099281 | DOI 10.3109/13816810.2013.841961 · Ophthalmic genetics · 2015 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “Eight of these had homozygous p.G61E mutation and one had a silent (no amino acid change) sequence change.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes.” | 0.98 | hgnc_dict_v1 |
Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.
PMID 21306220 | DOI 10.3109/13816810.2010.544365 · Ophthalmic genetics · 2011 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “The common Saudi mutation p.G61E occurred in most cases (38 homozygous, 8 compound heterozygous).” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “All had CYP1B1 sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | PAX6 | “Selected patients with visible iris abnormalities had PAX6, FOXC1, and PITX2 sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | FOXC1 | “Selected patients with visible iris abnormalities had PAX6, FOXC1, and PITX2 sequencing.” | 0.98 | hgnc_dict_v1 |
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.
PMID 21596299 | DOI 10.1016/j.jaapos.2011.01.156 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2011 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.G61E | “Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.” | 0.95 | hgvs_regex_v1 |
| gene | CYP1B1 | “Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family.” | 0.95 | saudi_context_rules_v1 |