Comportamiento del Síndrome de Usher en Granma / Behavior of Usher Syndrome in Granma

Con el objetivo de describir características genéticas y clínicas del Síndrome de Usher, se realizó un estudio descriptivo transversal en el Centro Provincial de Retinosis Pigmentaria de Bayamo desde febrero a julio del 2009, con 59 pacientes con diagnóstico de Síndrome de Usher a través del interrogatorio, examen físico otorrino-oftalmológico y revisión de sus historias clínicas. De la forma Asociada de Retinosis Pigmentaria el Síndrome de Usher prevaleció con el 74,6 por ciento. El tipo I fue el más frecuente y sexo masculino el de mayor incidencia. Se encontró consanguinidad en el 61,01 por ciento de los pacientes. Las manifestaciones oculares y audiológicas tuvieron un inicio precoz en la mayoría de los casos. El retraso mental y los trastornos afectivos se encontraron en el 22,03 por ciento de los pacientes. En el estudio se evidenció lo heterogéneo desde el punto de vista clínico y genético del Síndrome de Usher así como su carácter hereditario con patrón de herencia autosómico recesivo. Es muy importante su conocimiento y diagnóstico precoz con el fin del control de la natalidad en los padres y la aplicación de programas de educación de acuerdo a sus discapacidades para lograr el desarrollo en el paciente de una vida independiente(AU)

With the objective to describe the genetic and clinical characteristics of Usher Syndrome, it was performed a descriptive transversal research in the Province Center of Retinitis Pigmentosa in Bayamo, since february to july, 2009, with 59 patients diagnosed with Usher Syndrome, through interviews, otorrine-ophtalmologic exams and a revision of their clinical antecedents. From the associated way of Retinitis Pigmentosa, the Usher syndrome prevailed with 74,6 percent. The type I was the most frequent, and male sex the most affected. The consanguinity was found in 61,01 percent of the patients. The ocular and audiologic manifestations had a precocious beginning in most of the cases. The mental retardation and affective disorders were found in 22,03 percent of the patients. In the research it was evidenced the heterogeneous from the clinical and genetical point of view of Usher Syndrome, as well as the hereditary character as a pattern of autosomic recessive inheritance. It is very important to know and make a precious diagnosis with the objective to control natality in parents and for the application of educational programs according to their disabilities to develop the independent life in patients(EU)

Usher syndrome in Puerto Rico: a clinical and genetic study.

PURPOSE: To evaluate patients with the Usher syn drome in Puerto Rico. METHODS: Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis. RESULTS: All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M. CONCLUSIONS: Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.