RESUMO
BACKGROUND/AIMS: To assess the involvement of WDR36 sequence variance in primary open-angle glaucoma (POAG) in Italian patients. METHODS: A cohort of 34 Italian families affected by POAG was analysed by denaturing high-performance liquid chromatography for mutation in the WDR36 gene. Among the 34 families enrolled, 25 were affected by high-tension glaucoma (HTG), four by juvenile open-angle glaucoma and one by normal tension glaucoma. In addition, four families presented both juvenile open-angle glaucoma and HTG-POAG patients within the same pedigree. RESULTS: Four previously identified intronic polymorphisms (IVS5+30CâT; IVS12+90 GâT; IVS13+89GâA; IVS16-30AâG) and a novel one (IVS21-75GâA) have been identified. In addition, one proband was found to carry the p.D658G mutation reported as the more recurrent disease-causing allele. CONCLUSIONS: The findings suggest that WDR36 sequence variance is only a rare cause of glaucoma in Italian families. Clearly, investigation of additional families with extensive studies is needed to clarify the role of WDR36 in the pathophysiology of glaucoma.
Assuntos
Proteínas do Olho/genética , Glaucoma de Ângulo Aberto/genética , Pressão Intraocular/genética , Adulto , Cromatografia Líquida/métodos , Feminino , Variação Genética , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Pressão Intraocular/fisiologia , Itália , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação/genética , Linhagem , Polimorfismo de Nucleotídeo Único , Adulto JovemRESUMO
PURPOSE: This prospective study was conducted to evaluate the efficacy and safety of transscleral diode laser cyclophotocoagulation (TDLCP) in advanced refractory glaucoma. METHODS: A total of 124 eyes in 121 patients with advanced glaucoma refractory to medical treatment were treated consecutively with TDLCP. Success was defined as final intraocular pressure (IOP) of 5-21 mmHg in eyes with visual acuity (VA) of more than hand movements (HM) and relief of pain in eyes with VA of HM or less, including blind eyes. RESULTS: Mean patient age was 65.6 +/- 17.1 years (range 14-91 years). Mean follow-up was 17 +/- 14.6 months (range 3-42 months). Mean pretreatment IOP was 29.9 +/- 8.4 mmHg (range 17-58 mmHg) and IOP at last follow-up was 20.8 +/- 8 mmHg (range 6-45 mmHg) (p < 0.001). The number of laser applications (mean 9.2 +/- 2.8, range 4-15) and maximal laser power (mean 2.01 +/- 0.22 mW, range 1.3-3.0 mW) were not associated with lower postoperative IOP. Intraocular pressure of < or = 21 mmHg was recorded in 63.0% of eyes at the last follow-up visit. Overall, 28 (21.7%) eyes required at least one retreatment. No phthisis bulbi or persistent hypotonia developed. CONCLUSIONS: TDLCP is an effective and safe method for the treatment of advanced refractory glaucoma, although repeated treatments are often necessary.