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1.
Arch Soc Esp Oftalmol ; 83(10): 607-14, 2008 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-18855281

RESUMO

OBJECTIVE/METHOD: A 50-year-old hyperopic woman requested information about refractive surgery. Vesicle and band lesions at Descemet's membrane and endothelium were suggestive of posterior polymorphous dystrophy (PPD). Lower than normal endothelial cell densities were detected. A corneal refractive procedure was not recommended in this case. RESULTS/CONCLUSIONS: The presence of vesicles and bands at Descemet's membrane and endothelium is suggestive of PPD. Specular microscopy is mandatory in such patients, although corneal decompensation is not evident. A low endothelial cell count may be a contraindication for a hyperopic LASIK procedure in cases of PPD because of the possible risk of corneal decompensation.


Assuntos
Distrofias Hereditárias da Córnea/cirurgia , Ceratomileuse Assistida por Excimer Laser In Situ , Contraindicações , Feminino , Humanos , Pessoa de Meia-Idade
2.
Eur J Ophthalmol ; 17(3): 424-9, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17534828

RESUMO

PURPOSE: To report a family with lattice corneal dystrophy type II (LCD II) associated with systemic amyloidosis type V. METHODS: A 69-year-old woman presented a LCD II and marked dermachalasis. A lower blepharoplasty was performed. Two years later a penetrating keratoplasty was performed in her left eye. Three children of the patient were studied. Subtle manifestations of LCD were identified in two of them. Pathologic study of the excised skin and corneal button was made. DNA from peripheral blood was obtained, and was subjected to amplification of exon 5 of the gelsolin. RESULTS: Pathologic examination of the skin of blepharoplasty specimen demonstrated the presence of amyloid. Microscopic examination of the corneal button showed the presence of amyloid deposits beneath the normal-appearing Bowman layer and also within the stroma. Immunostaining for S-100 protein did not demonstrate a significant relationship between amyloid deposits and corneal nerves. Electron microscopic evaluation demonstrated the presence of amyloid fibrils. No clear relationship was found between amyloid deposits and corneal nerves. These findings confirm LCD type II or Meretoja syndrome. A mutation analysis of the gelsolin gene demonstrated the presence of G to A transition at nucleotide 654. Two children with manifestations of LCD also showed the identical mutation in gelsolin gene. CONCLUSIONS: A new family with Meretoja syndrome is reported. This is the first documented family with Meretoja syndrome in Spain and in the Mediterranean countries. The molecular study shows the same mutation of reported families from Finland, Japan, the United States, and the United Kingdom.


Assuntos
Amiloidose Familiar/genética , Amiloidose Familiar/patologia , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/patologia , Gelsolina/genética , Mutação Puntual , Idoso , Amiloide/metabolismo , Amiloidose Familiar/metabolismo , Blefaroplastia , Distrofias Hereditárias da Córnea/metabolismo , Análise Mutacional de DNA , Éxons/genética , Feminino , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase , Espanha , Síndrome
3.
Arch Soc Esp Oftalmol ; 88(7): 250-4, 2013 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-23768471

RESUMO

OBJECTIVE: To determine the validity of retinal photography in the diagnosis of diabetic macular edema. Determine the number and size of the photographs for its correct diagnosis. METHODS: Cross-sectional observational study consisting of 420 eyes of patients with diabetic retinopathy, using a combination of retinography (simple, stereoscopic, red-free light), after expansion, to determine its validity in the diagnosis of diabetic macular edema. Sensitivity, specificity, positive and negative predictive values and the correlation with the gold standard test (optical coherence tomography) were calculated. The retinographs were evaluated by three experts and their results analyzed by the statistical program SPSS 15.0 Windows. RESULTS: Sensitivities were below 80% in simple photographs and above 80% in the stereoscopic retinography, whereas those associated with red-free filters, reaching the 30° green stereoscopic photography, showed a sensitivity of 94.3%. The specificity was 95% in color and red-free stereoscopic retinography of 45° and 30°. The positive predictive value was greater than 95% and the negative value greater than 90% with a coefficient of agreement of 80%, and a degree of consistency with the benchmark of over 80%. CONCLUSIONS: The results of the stereoscopic retinographs are sufficient to enable them to be used in screening for diabetic macular edema. The use of a green filter and its combination with visual acuity improves results in the diagnosis of this disease.


Assuntos
Retinopatia Diabética/patologia , Edema Macular/patologia , Fotografação , Estudos Transversais , Técnicas de Diagnóstico Oftalmológico , Humanos , Estudos Prospectivos
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