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LAURA MORALES, JULIAN GARCIA-FEIJOO, JOSE MARIA MARITNEZ-DE-LA-CASA, FEDERICO SAENZ-FRANCES, LARA BORREGO-SANZ, MAITE GARCIA-ANTON, Julio Escribano; Prognosis of Primary Congenital Glaucoma in relation to CYP1B1 gen mutation. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4513.
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© ARVO (1962-2015); The Authors (2016-present)
PURPOSE: to determine the correlation between the presence of CYP 1B1 gen mutation and clinical severity of primary congenital glaucoma (PCG).
Methods: We study a total of 100 index cases with PCG. CYP 1B1 gen mutations were analyzed and clinical ophthalmological data (age, intraocular pressure (IOP), initial surgery, corneal diameter, the average cup/disc ratio, axial length, paquimetry and corneal edema), at diagnosis and after 120 months (visual acuity, IOP and total surgeries required) were collected. The statistical analysis compared the influence of the presence of mutation on the different variables using linear regression model, logistic and Poisson.
Results: CYP1b1 mutatios were detected in 38 of 100 patients (29,7% were compound homozygote and 70,3% were heterozygote). The most prevalent mutatios were Glu387Lys, T404fsX30, A179fsX18 and A355fsX89 among index cases. Statistical differences were found between mutated/non mutated PCG patients: age at diagnosis (B=-6,904; p=0,042), corneal edema (OR=3,57; P=0,01), corneal diameter (B=-0,73; p=0,009), axial length (B=-1,694; p=0,001) and the risk of trabeculectomy like initial surgery vs goniotomy (OR=8, p<0.0001).
Conclusions: Our studu results show the influence of the presence of CYP 1B1 gene mutations on the clinical severity of PCG.
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