CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.

Autor:	Coêlho REA; Hospital das Clínicas, Federal University of Pernambuco (HC-UFPE).; Altino Ventura Foundation (FAV)., Sena DR; Hospital das Clínicas, Federal University of Pernambuco (HC-UFPE).; Laboratory of Immunopathology Keizo Asami (LIKA)., Santa Cruz F; School of Medicine, Federal University of Pernambuco, Recife, Pernambuco, Brazil., Moura BCFS; Altino Ventura Foundation (FAV)., Han CC; Hospital das Clínicas, Federal University of Pernambuco (HC-UFPE).; Altino Ventura Foundation (FAV)., Andrade FN; School of Medicine, Federal University of Pernambuco, Recife, Pernambuco, Brazil., Lira RPC; Hospital das Clínicas, Federal University of Pernambuco (HC-UFPE).
Jazyk:	angličtina
Zdroj:	Journal of glaucoma [J Glaucoma] 2019 Feb; Vol. 28 (2), pp. 161-164.
DOI:	10.1097/IJG.0000000000001132
Abstrakt:	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.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu