Results Of The Spanish Multicenter Genetic Glaucoma Group

1. Elena Milla¹
2. Susana Duch¹
3. Miguel Carballo²
4. Maria Jose Gamundi²

¹Glaucoma & Genetics Unit, Institut Comtal d'Oftalmologia, Barcelona , Spain
²Servicio de Laboratorio, Hospital de Terrassa, Terrassa, Barcelona, Spain

Purpose: to present the results of the Spanish Multicenter Genetic Glaucoma Group.
Methods: complete ophthalmic examination of a Spanish population with familial glaucoma. Genetic analysis of MYOC and CYP1B1 genes by DNA extraction, PCR amplification and direct sequencing.

Results: 108 index patients from 108 unrelated Spanish families coming from 13 different hospitals were included in the study. CYP1B1 mutations were found in 30.7% of congenital and 5.8% of juvenile glaucoma cases. MYOC mutations were present in 3.17% of primary open angle and 7.7% of congenital cases. We found two CYP1B1 and one MYOC novel mutations.

Conclusions: the mutational ratio coincided with other occidental populations with low rates of consanguinity; genotype-phenotype correlation and genetic counseling were provided to our patients; molecular diagnosis contributed in our therapeutic decisions in order to better control our glaucoma patients.