March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
Prognosis of Primary Congenital Glaucoma in relation to CYP1B1 gen mutation
Author Affiliations & Notes
  • LAURA MORALES
    GLAUCOMA DEPARTMENT, HOSPITAL CLINICO SAN CARLOS, MADRID, Spain
  • JULIAN GARCIA-FEIJOO
    GLAUCOMA DEPARTMENT, HOSPITAL CLINICO SAN CARLOS, MADRID, Spain
  • JOSE MARIA MARITNEZ-DE-LA-CASA
    GLAUCOMA DEPARTMENT, HOSPITAL CLINICO SAN CARLOS, MADRID, Spain
  • FEDERICO SAENZ-FRANCES
    GLAUCOMA DEPARTMENT, HOSPITAL CLINICO SAN CARLOS, MADRID, Spain
  • LARA BORREGO-SANZ
    GLAUCOMA DEPARTMENT, HOSPITAL CLINICO SAN CARLOS, MADRID, Spain
  • MAITE GARCIA-ANTON
    GLAUCOMA DEPARTMENT, HOSPITAL CLINICO SAN CARLOS, MADRID, Spain
  • Julio Escribano
    Genetics, Catilla-La Mancha Med School, Albacete, Spain
  • Footnotes
    Commercial Relationships  LAURA Morales, None; JULIAN Garcia-feijoo, None; JOSE MARIA Maritnez-de-la-casa, None; FEDERICO Saenz-frances, None; LARA Borrego-sanz, None; MAITE Garcia-anton, None; Julio Escribano, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 4513. doi:
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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)

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Abstract

Purpose: : PURPOSE: to determine the correlation between the presence of CYP 1B1 gen mutation and clinical severity of primary congenital glaucoma (PCG).

Methods: : 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: : 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: : Conclusions: Our studu results show the influence of the presence of CYP 1B1 gene mutations on the clinical severity of PCG.

Keywords: gene/expression • intraocular pressure • outflow: trabecular meshwork 
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