التفاصيل البيبلوغرافية
| العنوان: |
Caracterización fenotípica de la retinitis pigmentosa asociada a sordera. (Spanish) |
| العنوان البديل: |
Phenotypic characterization of retinitis pigmentosa associated with deafness. (English) |
| المؤلفون: |
Camila Paredes, Ángela, López, Greizy, Gelvez, Nancy, Lucía Tamayo, Marta |
| المصدر: |
Biomédica: Revista del Instituto Nacional de Salud; 2022 Special Issue, Vol. 42, p1-36, 36p |
| مصطلحات موضوعية: |
USHER'S syndrome, HEARING disorders, RETINITIS pigmentosa, GENETIC disorders, PHYSICIANS, VESTIBULAR apparatus diseases |
| الملخص (بالإنجليزية): |
Introduction: Exist several syndromes that associate retinitis pigmentosa (RP) with deafness or hearing loss. The most frequent is Usher syndrome, a genetic disorder of autosomal recessive inheritance, and which in some cases, it is accompanied by vestibular dysfunction. However, there are cases of families, that despite having retinitis pigmentosa associated with deafness, cannot be classified in a specific syndrome, due to additional findings. Objective: Reassess the phenotypes of 103 families diagnosed previously, as possible Usher syndrome and / or RP associated with deafness. Materials and Methods: A descriptive, retrospective study was carried out. The medical records of 103 families with a probable clinical diagnosis of Usher Syndrome and / or RP associated with deafness were reviewed. Families whose clinical diagnosis did not correspond to a typical Usher syndrome were selected. Affected were evaluated at the ophthalmological and audiological level. Demographic and clinical variables were investigated. Results: 14 families, and 55 individuals in total, were selected and reevaluated, which did not correspond to a clinical diagnosis of Usher Syndrome. That is, 13.6% of the families that were initially considered typical Usher syndrome were later diagnosed with RP associated with deafness, another ocular symptom associated with hearing loss, RP or isolated hearing loss in the same family. Conclusions: Family study is essential in cases where the symptoms do not agree with a typical Usher syndrome. In the cases of RP associated with deafness, the correct clinical diagnosis allows to focus the molecular analyzes and thus establish a differential diagnosis. The need to establish nomenclature guidelines for individuals with these atypical findings is relevant to drive physicians and researchers in the correct approach to these cases. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): |
Introducción. Existen síndromes que asocian retinitis pigmentosa (RP) con sordera. El síndrome de Usher es un desorden genético caracterizado por dicha asociación. Sin embargo, existen casos de familias, que a pesar de presentar retinitis pigmentosa asociada a sordera, por hallazgos adicionales, no pueden ser clasificados como síndrome de Usher, ni como algún otro síndrome. Objetivo. Reevalurar fenotípicamente 103 familias diagnosticadas previamente como posible síndrome de Usher y/o RP asociada a sordera. Materiales y métodos. Se revisaron las historias clínicas de 103 familias con un posible diagnóstico clínico de síndrome de Usher y/o RP asociada a sordera. Se seleccionaron las familias cuyo diagnóstico clínico no correspondía a un síndrome de Usher típico. Los afectados fueron valorados oftalmológica y audiológicamente. Se analizaron variables demográficas y de la presentación clínica. Resultados. Se reevaluaron 14 familias, que no correspondían a un diagnóstico clínico de síndrome de Usher. Esl 13,6% de las familias que inicialmente se consideraban síndrome de Usher típico, fueron posteriormente diagnosticadas como RP asociada a sordera, otro síntoma ocular asociado a hipoacusia, RP o hipoacusia aisladas en la misma familia. Conclusiones. Es fundamental el estudio familiar en los casos donde la clínica no concuerda con un síndrome de Usher típico. En los casos de RP asociada a sordera, el diagnóstico clínico acertado permite enfocar los análisis moleculares y así establecer un diagnóstico diferencial. Es necesario establecer guías de nomenclatura para individuos con estos hallazgos atípicos con el fin de orientar a médicos e investigadores en el correcto abordaje de estos casos. [ABSTRACT FROM AUTHOR] |
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