Genotype-Phenotype Correlation in Moroccan Patients With Primary Congenital Glaucoma

Berraho, A.; Serrou, Aziza; Fritez, Nabila; Annas, Abdessamad El; Bencherifa, F.; Gaboun, F.; Hilal, Latifa

doi:10.1097/ijg.0b013e31829f99b7

Cited by 17 publications

(9 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…(5) Some sentences in the "Discussion" section have been deleted. (6) In Table 3: "Inbreeding" has been replaced by "Consanguinity". ( 7) All instances of "subjects" have been replaced by "patients".…”

Section: Declaration Of Conflicting Interestsmentioning

confidence: 99%

“…5 The clinical symptoms of increased IOP are: Enlargement of the globe (buphtalmos), Photophobia, Opacification of the cornea, epiphora and rupture in Descemet's membrane. 6 The diagnosis of PCG is based on medical conclusions: It is also Important to highlight that the genetic tests may also confirm the diagnosis. 7 This justifies the interest of the studies that have been carried out and those in progress to explain the correlation between genotype-phenotype and provide valuable regarding the underlying mechanisms.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Analysis of CYP1B1 gene mutations in primary congenital glaucoma patients

Haddad

Boujmia

Maaloum

et al. 2021

European Journal of Ophthalmology

View full text Add to dashboard Cite

Primary congenital glaucoma (PCG) is a rare and severe form of glaucoma and is usually transmitted as an autosomal-recessive disease. However, PCG is more common in certain ethnic and geographic groups where consanguineous relationships are common. The importance of this review is to inspect the mutations in the cytochrome P450 1B1 gene (CYP1B1) and to highlight the interest of the genetic study of CYP1B1 mutations. An in-depth study was carried out by the following search engines: PubMed, Scopus, clinic key and direct science for articles that have been published from 2011 until 2020. One hundred and sixty-one mutations were found in 1641 tested patients and three families, including 78 novel mutations. We identified a no significant difference in the sex ratio and the bilaterality was reported in the majority of patients. We have shown through this study that inbreeding plays an important role in the pathogenesis of PCG transmission compared to the sporadic mutations that have been found in some cases. The majority of the included studies were from ASIA (64.3%), followed by Europe (17.85%), America (10.71%) and Africa (7.14%). The first and most common mutation in our study is 182 G>A (p.Gly61Glu). It was identified in Iran, Portugal and Saudi Arabia and for the first time in Brazil and Vietnam. The greatest number of mutations in common is p.Gly61Glu. Mainly within five countries: Iran, Portugal, Saudi Arabia, Brazil and Vietnam. The first step in PCG screening should be a genetic test looking for founder and common mutation coupled with a clinical examination.

show abstract

Section: Declaration Of Conflicting Interestsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Analysis of CYP1B1 gene mutations in primary congenital glaucoma patients

Haddad

Boujmia

Maaloum

et al. 2021

European Journal of Ophthalmology

View full text Add to dashboard Cite

show abstract

“…Moreover, mutations in the Cyp1b1 gene, in addition to being strongly related to the pathophysiology of PCG, are associated with the most severe disease outcomes. Notably, a genotype–phenotype study in a large cohort of Moroccan PCG reports that both patients carrying CYP1B1 mutation and those with double CYP1B1 null alleles showed the most severe phenotype when compared with patients genetically negative ( 156 ).…”

Section: Resultsmentioning

confidence: 99%

Genetics and Glaucoma: the state of the art

Tirendi,

Domenicotti,

Bassi

et al. 2023

Front. Med.

View full text Add to dashboard Cite

Glaucoma is the second leading cause of irreversible blindness worldwide. Although genetic background contributes differently to rare early-onset glaucoma (before age 40) or common adult-onset glaucoma, it is now considered an important factor in all major forms of the disease. Genetic and genomic studies, including GWAS, are contributing to identifying novel loci associated with glaucoma or to endophenotypes across ancestries to enrich the knowledge about glaucoma genetic susceptibility. Moreover, new high-throughput functional genomics contributes to defining the relevance of genetic results in the biological pathways and processes involved in glaucoma pathogenesis. Such studies are expected to advance significantly our understanding of glaucoma’s genetic basis and provide new druggable targets to treat glaucoma. This review gives an overview of the role of genetics in the pathogenesis or risk of glaucoma.

show abstract

“…The incidence of PCG in Western countries (Ireland, Britain and USA) is 1 per 10–20,000 live births [ 3 ]. Recently, a genotype–phenotype study in a cohort of PCG patients in Morocco showed that disease severity, including mean intraocular pressure and number of surgeries, was significantly higher in the CYP1B1 mutation carriers as well as the double CYP1B1 null alleles [ 18 ]. Therefore, mutations in CYP1B1 are often associated with the most severe disease compared to other genes that are associated with the development of PCG [ 19 ].…”

Section: Resultsmentioning

confidence: 99%

Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma

Shah

Bouhenni

Benmerzouga

2022

JCM

View full text Add to dashboard Cite

Primary congenital glaucoma (PCG) is a rare type of glaucoma that is inherited in an autosomal recessive manner. PCG can lead to blindness if not detected early in children aged 3 or younger. PCG varies in presentation among various populations, where disease presentation and disease severity vary by mutation. The most common gene implicated in PCG is cytochrome p450 1B1 (CYP1B1). Here, we sought to review the literature for mutations in CYP1B1 and their presentation among different populations. Areas of interest include recent findings on disease presentation and potential implications on our understanding of PCG pathophysiology.

show abstract

Genotype-Phenotype Correlation in Moroccan Patients With Primary Congenital Glaucoma

Cited by 17 publications

References 33 publications

Analysis of CYP1B1 gene mutations in primary congenital glaucoma patients

Analysis of CYP1B1 gene mutations in primary congenital glaucoma patients

Genetics and Glaucoma: the state of the art

Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma

Contact Info

Product

Resources

About