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1.
Ophthalmic Genet ; 38(3): 222-225, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27355837

RESUMO

PURPOSE: To both characterize the clinical features of large primary open angle glaucoma (POAG) pedigree from a village in southern India and to investigate the genetic basis of their disease. MATERIALS AND METHODS: Eighty-four members of a large pedigree received complete eye examinations including slit lamp examination, tonometry, gonioscopy, and ophthalmoscopy. Some were further studied with perimetry. Those diagnosed with POAG were tested for disease-causing mutations in the myocilin and optineurin genes with Sanger sequencing. RESULTS: Fourteen of 84 family members were diagnosed with POAG, while eight were clinically judged to be POAG-suspects. The family structure and the pattern of glaucoma in the pedigree are complex. Features of glaucoma in this pedigree include relatively early age at diagnosis (mean 50 ± 14 years) and maximum intraocular pressures ranging from 14 to 36 mm Hg with a mean of 23 mm Hg ± 6.5 mm Hg. Patients had an average central corneal thickness (mean 529 ± 37.8 microns) and moderate cup-to-disc ratios (0.74 ± 0.14). No mutations were detected in myocilin, optineurin, or TANK binding kinase 1 (TBK1). CONCLUSIONS: We report a five-generation pedigree with a complex pattern of POAG inheritance that includes 22 POAG patients and glaucoma suspects. Although the familial clustering of POAG in this pedigree is consistent with dominant inheritance of a glaucoma-causing gene, mutations were not detected in genes previously associated with autosomal dominant glaucoma, suggesting the involvement of a novel disease-causing gene in this pedigree.


Assuntos
Proteínas do Citoesqueleto/genética , Proteínas do Olho/genética , Glaucoma de Ângulo Aberto/diagnóstico , Glaucoma de Ângulo Aberto/genética , Glicoproteínas/genética , Proteínas Serina-Treonina Quinases/genética , Fator de Transcrição TFIIIA/genética , Adulto , Idoso , Proteínas de Ciclo Celular , Feminino , Gonioscopia , Humanos , Índia , Pressão Intraocular/fisiologia , Masculino , Proteínas de Membrana Transportadoras , Pessoa de Meia-Idade , Hipertensão Ocular/diagnóstico , Hipertensão Ocular/genética , Linhagem , Testes de Campo Visual , Campos Visuais/fisiologia , Adulto Jovem
2.
Indian J Ophthalmol ; 62(12): 1167-70, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25579363

RESUMO

We report a case series of post-operative endophthalmitis due to Pseudomonas aeruginosa. A total of 8 patients operated for cataract, were referred to our facility with acute onset of decreased vision 1-2 days following surgery. All patients had clinical evidence of acute exogenous endophthalmitis with severe anterior chamber exudative reaction. Ocular samples (aqueous aspirate and vitreous tap) for microbiology were taken from all eyes. Microbiology from all revealed P. aeruginosa which was resistant to all antibiotics except colistin. With prompt and accurate microbiological support it was possible to control the infection in all the eyes with the use of colistin intravitreally and intravenously which to the best of our knowledge, has been never reported. Intravitreal injection of colistin could be an option effective in the management of multi-drug-resistant endophthalmitis caused by Gram-negative bacteria.


Assuntos
Colistina/administração & dosagem , Endoftalmite/tratamento farmacológico , Infecções Oculares Bacterianas/tratamento farmacológico , Infecções por Pseudomonas/tratamento farmacológico , Pseudomonas aeruginosa/isolamento & purificação , Infecção da Ferida Cirúrgica/tratamento farmacológico , Antibacterianos/administração & dosagem , Endoftalmite/microbiologia , Infecções Oculares Bacterianas/microbiologia , Feminino , Seguimentos , Humanos , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Facoemulsificação/efeitos adversos , Infecções por Pseudomonas/microbiologia , Infecção da Ferida Cirúrgica/microbiologia
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