{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T19:48:23Z","timestamp":1740167303244,"version":"3.37.3"},"reference-count":54,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"Sp. 1","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100007637","name":"Departamento Administrativo de Ciencia, Tecnolog\u00eda e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["Cod.120372453645. Contrato 656-2015"],"award-info":[{"award-number":["Cod.120372453645. Contrato 656-2015"]}],"id":[{"id":"10.13039\/100007637","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["biomedica"],"abstract":"<jats:p>Introducci\u00f3n. El s\u00edndrome de Usher es una alteraci\u00f3n gen\u00e9tica caracterizada por la asociaci\u00f3n de retinitis pigmentaria y sordera. Sin embargo, hay casos con familias en las cuales, a pesar de presentarse dicha asociaci\u00f3n, no se puede diagnosticar un s\u00edndrome de Usher ni ninguno otro.Objetivo. Reevaluar fenot\u00edpicamente a 103 familias con diagn\u00f3stico previo de posible s\u00edndrome de Usher o retinitis pigmentaria asociada con sordera.Materiales y m\u00e9todos. Se revisaron las historias cl\u00ednicas de 103 familias con un posible diagn\u00f3stico cl\u00ednico de s\u00edndrome de Usher o retinitis pigmentaria asociada con sordera. Se seleccionaron las familias cuyo diagn\u00f3stico cl\u00ednico no correspond\u00eda a un s\u00edndrome de Usher t\u00edpico. Los afectados fueron valorados oftalmol\u00f3gica y audiol\u00f3gicamente. Se analizaron variables demogr\u00e1ficas y cl\u00ednicas.Resultados. Se reevaluaron 14 familias cuyo diagn\u00f3stico cl\u00ednico no correspond\u00eda al de s\u00edndrome de Usher. De las familias con diagn\u00f3stico inicial de s\u00edndrome de Usher t\u00edpico, el 13,6 % recibieron uno posterior de \u201cretinitis pigmentaria asociada con sordera\u201d, de \u201cotro s\u00edntoma ocular asociado con hipoacusia\u201d, o en forma aislada en una misma familia, de \u201cretinitis pigmentaria\u201d o \u201chipoacusia\u201d.Conclusiones. Es fundamental el estudio familiar en los casos en que la cl\u00ednica no concuerda con el diagn\u00f3stico de s\u00edndrome de Usher t\u00edpico. En los pacientes con retinitis pigmentaria asociada con sordera, el diagn\u00f3stico cl\u00ednico acertado permite enfocar los an\u00e1lisis moleculares y, as\u00ed, establecer un diagn\u00f3stico diferencial. Es necesario elaborar gu\u00edas de nomenclatura en los casos con estos hallazgos at\u00edpicos para orientar a m\u00e9dicos e investigadores en cuanto a su correcto manejo.<\/jats:p>","DOI":"10.7705\/biomedica.6129","type":"journal-article","created":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T15:21:02Z","timestamp":1657725662000},"page":"130-143","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":0,"title":["Caracterizaci\u00f3n fenot\u00edpica de la retinitis pigmentaria asociada a sordera"],"prefix":"10.7705","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5439-5560","authenticated-orcid":false,"given":"\u00c1ngela Camila","family":"Paredes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9380-0792","authenticated-orcid":false,"given":"Greizy","family":"L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3925-1451","authenticated-orcid":false,"given":"Nancy","family":"Gelvez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8297-3970","authenticated-orcid":false,"given":"Marta Luc\u00eda","family":"Tamayo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4444","published-online":{"date-parts":[[2022,5,1]]},"reference":[{"key":"108701","doi-asserted-by":"crossref","unstructured":"Malm E, Ponjavic V, M\u00f6ller C, Kimberling WJ, Andr\u00e9asson S. 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