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1.
Hum Genet ; 116(3): 152-9, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15611866

RESUMO

No genes influencing oculometric phenotypes have yet been identified, despite it being well known that eye morphometry is involved in refraction and that genetics may play an important role. We have therefore performed a heritability analysis and genome-wide search (GWS) of biometric ocular traits in an isolated Sardinian population, assessing the genetic contribution and identifying the associated genetic loci. A complete eye examination including refraction and ocular biometry measurements such as axial length (AL), anterior chamber depth (ACD) and corneal curvature (CC), was performed on 789 subjects. Heritability analysis was carried out by means of parent-offspring regression and variance component models. Univariate and bivariate linkage analysis was performed by using 654 microsatellite markers spanning the genome. CC showed a mean heritability of 57%. AL and ACD were found to have significantly different variances (P<0.01) in males and females, so that heritability was calculated separately for each sex. AL had an estimated heritability in females of 31% and in males of 60%, whereas ACD had an estimated heritability of 47% in females and of 44% in males. In the GWS, the most suggestive evidence of linkage was identified on chromosome 2 for AL (LOD 2.64), on chromosome 1 for ACD (LOD 2.32) and on chromosomes 7, 2 and 3 for CC (LOD 2.50, 2.44 and 2.34, respectively). High heritability of eye morphometry traits was thus revealed. The identified loci are the first linkage signals available in ocular biometry. Notably, the observed significant differences in parental transmission deserve further study.


Assuntos
Olho/anatomia & histologia , Refração Ocular/genética , Adolescente , Adulto , Fatores Etários , Idoso , Biometria , Criança , Pré-Escolar , Córnea/anatomia & histologia , Feminino , Ligação Genética , Variação Genética , Genoma Humano , Humanos , Itália , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Fatores Sexuais
2.
Cornea ; 23(4): 330-8, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15097125

RESUMO

OBJECTIVE: To assess the efficacy and safety of treating pterygia by photodynamic therapy (PDT) with verteporfin (Visudyne). MATERIALS AND METHODS: Ten consecutive patients with primary, recurrent, or secondary pterygium, refusing excisional surgery, were treated with a 689-nm laser delivered directly onto the pterygium after verteporfin infusion. Postoperative outcome was followed clinically and photographically for a minimum of 3 months. RESULTS: Successful photothrombosis of pterygium vascularization was obtained immediately after treatment in all cases. After 1 month, revascularization of pterygia was observed in 70% of cases, and treatment was repeated after a 3-month interval. Regression or stabilization of pterygia was manifested by a scarring reaction of the corneal apex with complete or partial disappearance of vascularity. No relevant side effects were observed in our series. CONCLUSION: PDT with verteporfin is a safe procedure to arrest the growth of pterygia. It is indicated for patients with a low- or medium-grade pterygium that refuse a surgical approach; however, multiple sessions may be required.


Assuntos
Fotoquimioterapia , Fármacos Fotossensibilizantes/uso terapêutico , Porfirinas/uso terapêutico , Pterígio/tratamento farmacológico , Adulto , Idoso , Vasos Sanguíneos/efeitos dos fármacos , Vasos Sanguíneos/patologia , Túnica Conjuntiva/irrigação sanguínea , Túnica Conjuntiva/patologia , Feminino , Fluorofotometria , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Pterígio/patologia , Recidiva , Verteporfina
3.
Cornea ; 22(5): 485-8, 2003 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12827058

RESUMO

PURPOSE: To describe the effect of photodynamic therapy (PDT) using verteporfin (Visudyne) on corneal neovascularization (CNV) in two patients. METHODS: Two patients with corneal neovascularization were treated with a nonthermal laser light at 689 nm delivered 15 min after an intravenous infusion of verteporfin. Postoperative outcome of neovascularization was followed clinically (inflammation, intraocular pressure, and visual acuity) and photographically [color photographs and corneal fluorescein and indocyanine green (ICG) angiography] for a minimum of 6 months. RESULTS: Successful photothrombosis of corneal neovascularization was obtained immediately after treatment in the two patients, and regression was verified by corneal fluorescein and ICG angiography. In one case, partial vessel recanalization was observed after 1 month, and treatment was repeated, with complete regression of new vessels. No relevant side effects were observed in our cases. CONCLUSIONS: PDT with verteporfin is an effective and safe procedure indicated for patients with corneal neovascularization; however, multiple sessions may be required.


Assuntos
Neovascularização da Córnea/tratamento farmacológico , Fotoquimioterapia , Fármacos Fotossensibilizantes/uso terapêutico , Porfirinas/uso terapêutico , Idoso , Doenças da Córnea/complicações , Doenças da Córnea/etiologia , Doenças da Córnea/metabolismo , Neovascularização da Córnea/complicações , Neovascularização da Córnea/patologia , Humanos , Ceratite Herpética/complicações , Metabolismo dos Lipídeos , Masculino , Retratamento , Resultado do Tratamento , Verteporfina
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