CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.
J Glaucoma
; 28(2): 161-164, 2019 02.
Article
em En
| MEDLINE
| ID: mdl-30520782
PURPOSE: To identify variants in the CYP1B1 gene in northeastern Brazilian patients with primary congenital glaucoma (PCG) and possible genotype-phenotype correlations. MATERIALS AND METHODS: This is a cross-sectional observational study of 17 nonrelated patients with PCG, performed at the Altino Ventura Foundation, Recife, Brazil, between December 2017 and February 2018. All patients underwent an examination, including gathering information from their medical records, slit-lamp examination, fundoscopy, tonography, and measuring corneal diameter and thickness. RESULTS: The mean age at the time of the examination was 27.7 years; 52.9% (n=9) were male, 29.4% (n=5) had history of parental consanguinity. The mean age when the diagnosis was confirmed was 0.53±2.18 years. Horizontal corneal diameter ranged from 12 to 16 mm (mean: 14.05±1.42 mm) and the IOP mean value was 17.31±9.84 mm Hg. Predicted pathogenic variants of the CYP1B1 gene were identified in 4 patients (23.5%). The differences among all clinical parameters did not reach statistical significance between individuals with and without CYP1B1 variants (P-values >0.05). CONCLUSIONS: Two variants which had not been previously related to PCG in Brazil (c.182G>A, c.241T>A) were identified. No statistically significant genotype-phenotype correlations were found.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hidroftalmia
/
Citocromo P-450 CYP1B1
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prevalence_studies
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Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Child, preschool
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Female
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Humans
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Infant
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Male
País/Região como assunto:
America do sul
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Brasil
Idioma:
En
Revista:
J Glaucoma
Assunto da revista:
OFTALMOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article
País de publicação:
Estados Unidos