RESUMEN
PURPOSE: To determine whether the incidence of and susceptibility to climatic droplet keratopathy (CDK), an acquired, often bilateral degenerative corneal disease, is influenced by the genetic background of the individuals who exhibit the disorder. METHODS: To determine whether the disease expression was influenced by the genetic ancestry of CDK cases in native Mapuche of the northwest area of Patagonia in Argentina, we examined mitochondrial DNA and Y-chromosome variation in 53 unrelated individuals. Twenty-nine of them were part of the CDK (patient) population, while 24 were part of the control group. The analysis revealed the maternal and paternal lineages that were present in the two study groups. RESULTS: This analysis demonstrated that nearly all persons had a Native American mtDNA background, whereas 50% of the CDK group and 37% of the control group had Native American paternal ancestry, respectively. There was no significant difference in the frequencies of mtDNA haplogroups between the CDK patient and control groups. Although the Y-chromosome data revealed differences in specific haplogroup frequencies between these two groups, there was no statistically significant relationship between individual paternal genetic backgrounds and the incidence or stage of disease. CONCLUSIONS: These results indicate a lack of correlation between genetic ancestry as represented by haploid genetic systems and the incidence of CDK in Mapuche populations. In addition, the mtDNA appears to play less of a role in CDK expression than for other complex diseases linked to bioenergetic processes. However, further analysis of the mtDNA genome sequence and other genes involved in corneal function may reveal the more precise role that mitochondria play in the expression of CDK.
Asunto(s)
Enfermedades de la Córnea/etnología , Enfermedades de la Córnea/genética , Predisposición Genética a la Enfermedad , Adulto , Argentina , Estudios de Casos y Controles , Cromosomas Humanos Y/genética , Enfermedades de la Córnea/epidemiología , ADN Mitocondrial/genética , Femenino , Variación Genética , Genética de Población , Haplotipos , Humanos , Incidencia , Indígenas Sudamericanos , Masculino , Lágrimas/químicaRESUMEN
PURPOSE: Human T-cell lymphotrophic virus type 1 is a RNA retrovirus that primarily affects CD4+ T-cells. Human T-cell lymphotrophic virus type 1 infection is the established cause of adult T-cell leukemia/lymphoma, an aggressive malignancy of CD4+ T-cells, and two nonneoplastic conditions: human T-cell lymphotrophic virus type 1-associated myelopathy/tropical spastic paraparesis and human T-cell lymphotrophic virus type 1 uveitis. Other reported ophthalmic manifestations of human T-cell lymphotrophic virus type 1 infection include lymphomatous and leukemic infiltrates in the eye and ocular adnexa in patients with adult T-cell leukemia/lymphoma, retinal pigmentary degeneration, and neuro-ophthalmic disorders in patients with human T-cell lymphotrophic virus type 1-associated myelopathy/tropical spastic paraparesis and keratoconjunctivitis sicca, episcleritis, and sclerouveitis in asymptomatic human T-cell lymphotrophic virus type 1 carriers. This report describes the ocular findings in three Jamaican patients with human T-cell lymphotrophic virus type 1 infection and adult T-cell leukemia/lymphoma. METHODS: The clinical records of three patients with human T-cell lymphotrophic virus type 1 infection and adult T-cell leukemia/lymphoma examined at the National Eye Institute were reviewed. Each patient had one or more complete ophthalmic evaluations. RESULTS: All three patients had corneal abnormalities, including corneal haze and central opacities with thinning; bilateral immunoprotein keratopathy; and peripheral corneal thinning, scarring, and neovascularization. All three patients had elevated serum immunoglobulin levels. CONCLUSIONS: We believe that the novel corneal findings in these patients are most likely a consequence of the hypergammaglobulinemia induced by the human T-cell lymphotrophic virus type 1 infection or the T-cell malignancy.
Asunto(s)
Enfermedades de la Córnea/virología , Infecciones Virales del Ojo , Virus Linfotrópico T Tipo 1 Humano/aislamiento & purificación , Paraparesia Espástica Tropical , Adulto , Enfermedades de la Córnea/diagnóstico , Enfermedades de la Córnea/etnología , Infecciones Virales del Ojo/diagnóstico , Infecciones Virales del Ojo/etnología , Infecciones Virales del Ojo/virología , Femenino , Anticuerpos Anti-HTLV-I/análisis , Virus Linfotrópico T Tipo 1 Humano/inmunología , Humanos , Hipergammaglobulinemia/inmunología , Hipergammaglobulinemia/virología , Inmunoglobulina G/inmunología , Jamaica/epidemiología , Masculino , Persona de Mediana Edad , Paraparesia Espástica Tropical/diagnóstico , Paraparesia Espástica Tropical/etnología , Paraparesia Espástica Tropical/virología , Agudeza VisualRESUMEN
Cornea plana may occur in connection with malformations of the eye or of other parts of the body. As an isolated ocular anomaly, it may be inherited in an autosomal recessive or in an autosomal dominant fashion. We have previously mapped genes for both forms of the disease to 12q21. We studied 36 members of three generations of a Black Cuban family with autosomal dominant cornea plana. Three affected males and 11 affected females were examined. Corneal refraction varied between 37.50 and 42.75 diopters. Horizontal corneal diameter ranged from 8.75 to 11.25 mm. The cornea was clear and the limbal zone only occasionally widened. A marked arcus senilis was present in six patients aged 30 to 58 years, but in none of their healthy relatives. The anterior chamber was shallow in those affected, varying in depth from 1.68 to 2.38 mm. One woman was blind from closed-angle glaucoma. The axial length was within normal limits in all patients.
Asunto(s)
Población Negra/genética , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Córnea/anomalías , Enfermedades de la Córnea/etnología , Enfermedades de la Córnea/genética , Anomalías del Ojo/etnología , Anomalías del Ojo/genética , Genes Dominantes/genética , Adolescente , Adulto , Cámara Anterior/anomalías , Cámara Anterior/patología , Ceguera/etiología , Ceguera/genética , Niño , Córnea/patología , Enfermedades de la Córnea/patología , Cuba/epidemiología , Anomalías del Ojo/patología , Salud de la Familia/etnología , Femenino , Glaucoma de Ángulo Cerrado/complicaciones , Glaucoma de Ángulo Cerrado/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , Refracción Ocular/genéticaRESUMEN
We found corneal lesions of West Indian punctate keratopathy in 128 of 2,048 patients examined in a general eye clinic in Grenada, West Indies. Of these, 125 were Black, two were Indians (Hindu), and one a White female. The lesions occurred in asymptomatic persons with no history of trauma or recurrent erosions. Males were affected more than females, and older adults more than children. The condition was usually unilateral but occasionally bilateral, with one to four lesions in the intrapalpebral fissure in a paracentral location. The lesions were round, discrete, white to yellowish-gray dots 0.2-0.6 mm in size located at the level of the epithelial basement membrane and Bowman's layer. No vascularization nor other anterior membrane disorders were observed. Corneal biopsies of 11 patients were studied by histopathologic and immunoperoxidase techniques. Histopathology revealed areas of lipid positive material in Bowman's layer and adjacent corneal stroma. The epithelium showed basal cell edema, degeneration, and irregular thickening of the basement membrane. Immunoperoxidase studies did not contribute any new information about these lesions.
Asunto(s)
Enfermedades de la Córnea/patología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Membrana Basal/patología , Niño , Preescolar , Enfermedades de la Córnea/epidemiología , Enfermedades de la Córnea/etnología , Opacidad de la Córnea/epidemiología , Opacidad de la Córnea/etnología , Opacidad de la Córnea/patología , Sustancia Propia/patología , Femenino , Humanos , Técnicas para Inmunoenzimas , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Indias Occidentales/epidemiologíaRESUMEN
We found corneal lesions of West Indian punctate keratopathy in 128 of 2,048 patients examined in a general eye clinic in Grenada, West Indies. Of these 125 were Black, two were Indians (Hindu), and one a White female. The lesions occured in asymptomatic persons with no history of trauma or recurrent erosions. Males were affected more than females, and older adults more than children. The condition was usually unilateral but occasionally bilateral, with one to four lesions in the intrapalpebral fissure in a paracentral location. The lesions were round, discrete, white to yellowish-gray dots 0.2-0.6 mm in size located at the level of the epithelial basement membrane and Bowman's layer. No vascularization nor other anterior membrane disorders were observed. Corneal biopsies of 11 patients were studied by histopathologic and immunoperoxidase techniques. Histopathology revealed areas of lipid positive material in Bowman's layer and adjacent corneal stroma. The epithelium showed basal cell edema, degeneration, and irregular thickening of the basement membrane. Immunoperoxidase studies did not contribute any new information about these lesions (AU)