2005, Number 2
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Rev Mex Oftalmol 2005; 79 (2)
Primary congenital glaucoma: molecular study in a family with two affected members.
González-Huerta LM, Messina-Baas OM, Lara-Huerta SF, Babayán-Mena I, Cuevas-Covarrubias SA
Language: Spanish
References: 15
Page: 106-110
PDF size: 69.03 Kb.
ABSTRACT
The glaucomas are an heterogeneous group of entities that cause death of the optic nerve. They are classified in open-angle, close-angle and congenital based on the mechanism by which aqueous outflow is impeded. When glaucoma occurs as an isolated ocular abnormality it is known as primary congenital glaucoma (PCG). PCG has an incidence of about 1 in 10,000 new-born and apparently is inherited as autonomic recessive trait. Recently, mutations in CYP1B1gene in PCG have been reported. In the present study we analyzed a family with 2 affected female cases of PCG. DNA studies were performed through PCR and DNA sequencing analysis from genomic DNA. We found a 13 bp homozygous deletion that removes nucleotides 1410 to 1422 from exon 3. These mutations resulted in a truncated polypeptide by creating a premature stop codon. CYP1B1 gene analysis in both parents showed that they were heterozygous for the same molecular defect. Analysis of the CYP1B1 gene in PCG is important to correctly offer an adequate genetic counseling.
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