ArticleMolecular vision2013
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.Molecular biology reports · 2025Article
- Insights intoLife (Basel, Switzerland) · 2025Review
- Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin.bioRxiv : the preprint server for biology · 2025Article
- Article
- Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.Human mutation · 2021Review
- Axenfeld-Rieger Syndrome: Rare Case Presentation and Overview.Journal of maxillofacial and oral surgery · 2020Article
- Updates on the molecular genetics of primary congenital glaucoma (Review).Experimental and therapeutic medicine · 2020Review
- Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes.Journal of developmental biology · 2020Review
- A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome.Experimental and therapeutic medicine · 2019Article
- Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion.Molecular genetics & genomic medicine · 2019Article
- Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review).International journal of molecular medicine · 2019Review
- Screening ofMolecular biology research communications · 2018Article
- Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2018Article
- The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature.Medicine · 2017Article
- Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort.Journal of ophthalmology · 2017Article
- Analysis ofMolecular vision · 2016Article
- Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Cold Spring Harbor perspectives in medicine · 2015Review
- CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma.Molecular vision · 2015Article
- Article
- Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).Transactions of the American Ophthalmological Society · 2014Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT).
methodsIndex patients from 226 families participated in this study. Patients were diagnosed with familial glaucoma or OHT by complete ophthalmologic examination. Screening for MYOC mutations was performed in 207 index patients: 96 with adult-onset primary open-angle glaucoma (POAG), 21 with primary congenital glaucoma (PCG), 18 with juvenile-onset open-angle glaucoma (JOAG), five with Axenfeld-Rieger syndrome (ARS), and 67 with other types of glaucoma. One hundred two of the families (including all those in whom a MYOC mutation was detected) were also screened for CYP1B1 mutations: 45 POAG, 25 PCG, 21 JOAG, four ARS, and seven others.
resultsWe examined 292 individuals (patients and relatives) with a positive family history of glaucoma or OHT. We identified two novel MYOC variants, p.Lys39Arg and p.Glu218Lys, in two families with POAG, and six previously reported MYOC mutations in seven families with POAG (four), JOAG (one), PCG (one), and normotensive glaucoma (one). CYP1B1 mutations were found in 16 index patients with PCG (nine), POAG (three), JOAG (two), and ARS (two).
conclusionsThe high percentage (9/25=36%) of mutations in CYP1B1 found in non-consanguineous patients with congenital glaucoma mandates genetic testing. However, the percentage of mutations (9/207=4.4%) in MYOC associated with glaucoma is relatively low in our population. The variable phenotype expression of glaucoma, even in families, cannot be explained with a digenic mechanism between MYOC and CYP1B1.
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23922489PMC3733905W2160783087What OpenQuestion holds
Registered trials
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