Variabilidad genética y rol de los fenotipos oculares en el Síndrome de Stickler

Palabras clave

Stickler Syndrome, vitreous type, COL2A1, COL11A1, COL9A1, COL9A2, arthro-ophthalmopathy. Síndrome de Stickler, fenotipo vítreo, COL2A1, COL11A1, COL9A1, COL9A2, Oftalmoartropatía. Síndrome de Stickler, fenótipo vítreo, COL2A1, COL11A1, COL9A1, COL9A2, Oftalmoartropatia.

Cómo citar

Pantaleon Florido, G., & Juvier Riesgo, T. (2021). Variabilidad genética y rol de los fenotipos oculares en el Síndrome de Stickler. Revista Salud Bosque, 11(1). https://doi.org/10.18270/rsb.v11i1.3641

Resumen

Introducción: El Síndrome de Stickler (SS) es una anomalía del tejido conectivo que se caracteriza por alteraciones oculares, orofaciales, auditivas y esqueléticas. Aunque existen cuatro tipos de SS, la mayoría de las formas clínicas presentan alteraciones oculares como alta miopía, degeneración vitreorretiniana, cataratas y desprendimiento de retina, siendo la causa más común de este último en la infancia.

Objetivo: Ampliar los conocimientos acerca de los genes involucrados en el SS y su expresión clínica, profundizando en el rol de los fenotipos oculares.

Metodología: En este trabajo realizamos una revisión del estado actual del SS consultando bibliografía de alto impacto y reciente publicación. Se hicieron búsquedas a través de PubMed, Hinari, SCIELO, Medline y se consultaron páginas dedicadas a estos temas como OMIM, OPHRANET, GeneMap, Genetest, Proteins, Gene, entre otros. Se utilizaron descriptores de búsqueda como “Síndrome de Stickler’’, ‘‘Stickler Syndrome gene’’, ‘‘ocular signs and Stickler Syndrome’’ and ‘‘Stickler Syndrome review’’. 

Resultados: Fueron encontrados numerosos artículos acerca del SS, de ellos se citaron un total de 32, de los cuales 25 son del 2016 a la fecha, reportándose 4 genes principales: COL2A1, COL11A1, COL9A1, COL9A2.  El COL2A1 y el COL11A1 son responsables del 95% de los pacientes con SS. Las alteraciones oculares son comunes en la mayoría de los tipos.

Conclusiones: El diagnóstico del SS se basa en criterios clínicos-radiológicos y aunque la confirmación molecular es determinante, la evaluación del vítreo puede ser una guía útil para un análisis genético eficiente.

https://doi.org/10.18270/rsb.v11i1.3641

Citas

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