1 - Serviço de Oftalmologia, Centro Hospitalar do Baixo Vouga
2 - Unidade de Oftalmologia, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisboa
Divulgação:
- 56º Congresso Sociedade Portuguesa de Oftalmologia, Vilamoura, dezembro 2013
- 5th World Congress on Controversies in Ophthalmology, Lisboa, março 2014
- 40th Annual Meeting of the European Pediatric Ophthalmological Society (EPOS), Barcelona, novembro 2014
- Prémio: BEST RAPID FIRE AWARD - 40th EPOS Annual Meeting
Resumo:
Purpose: To investigate the prevalence of CYP1B1 mutations in Portuguese children with primary congenital glaucoma (PCG) and to study the possible correlations between the mutation status and clinical features of the disease. Material and Methods: DNA sequencing analysis of the CYP1B1 gene was used to screen 21 children with PCG followed on Paediatric Ophthalmology and Medical Genetics consultations at D. Estefânia's Hospital (Centro Hospitalar de Lisboa Central). The effect of mutations on the phenotype of the patients was also assessed.
Results: Mutations in the CYP1B1 gene in six patients (28.57%) were detected, all compound heterozygotes. Seven types of mutations were identified: c.182G>A, c.317C>A, c.535delG, c.1064_1076del, c.1159G>A, c.1310C>T and c.1390dupT. All patients with these mutations developed bilateral PCG, whereas in the group without mutations only seven (46.67%) showed bilateral disease. Age at diagnosis was lower in the group of patients with these mutations (0.0±0.00 months vs. 4.5±2.63 months, p<0.01). In the remaining variables (age at first surgery, postoperative intraocular pressure and corneal diameter, final visual acuity, number of surgical reinterventions and of anti-glaucoma medications required postoperatively) no significant differences between both groups were detected (p>0.05 for all comparisons).
Conclusion: This study is the first to report the variety of mutations in the CYP1B1 gene in a group of Portuguese children with PCG and to describe two new mutations. Genetic analysis of the PCG must be carried out, although it has not been possible to establish a genotype-phenotype correlation yet, with the exception of bilaterality and early age at diagnosis.