Análisis molecular de casos aislados con glaucoma congénito primario: estudio preliminar

SUMMARY Primary congenital glaucoma (PCG), an autosomal recessive disorder due to abnormal development of the anterior eye portion, is an important cause of childhood blindness. The principal molecular defect in most of PCG subjects occurs in the CYP1B1 gene which is also expressed in the anterior chamber angle of the eye. CYP1B1 enzyme is able to metabolize steroid hormones and participates in tissue development. In the present study, we analyze the CYP1B1 gene of 14 non-related and sporadic patients with PCG. Onset of clinical symptoms ranged from birth to 12 months (mean 4.5 months), the male:female ratio was 10:4 while ocular findings were similar in all patients, two cases were of difficult control. Consanguinity was observed in 3 families. DNA sequencing analysis of the CYP1B1 gene showed no missense or nonsense mutations, only polymorphic changes similar to those observed in normal controls were found to be present. These data allow to conclude that sporadic cases with PCG are not consequence of mutations in the CYP1B1 gene in our population, at least in the analyzed sample. The analysis of the CYP1B1 gene is very important in diagnosis and genetic counseling of PCG in this population. Key mords: Gen CPY1B1, primary congenital glaucoma, cytochrome P4501B1, SNP’s.