advertisement
Abstract #79794 Published in IGR 20-2
CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma
Coêlho REA; Sena DR; Santa Cruz F; Moura BCFS; Han CC; Andrade FN; Lira RPCJournal of Glaucoma 2019; 28: 161-164
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.
Full article
Classification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)