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El albinismo : tipos, etiología, tratamiento actual y perspectivas de nuevas terapias

Thesis published in 2020 by Ana de Diego Yenes
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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Abstract

El albinismo es una rara enfermedad congénita que presenta una hipopigmentación de la piel y los ojos (albinismo oculocutáneo, OCA) o solamente de los ojos (albinismo ocular, OA) consecuencia de una reducción o ausencia de melanina, lo que también provoca déficits visuales. Se conocen al menos 7 tipos de albinismo oculocutáneo, siendo los 4 primeros los más frecuentes y estudiados, y un tipo de albinismo ocular. La manifestación del albinismo se produce por diferentes mutaciones en una serie de genes vinculados a la pigmentación. Existen, así mismo, formas sindrómicas del albinismo, provocadas también por mutaciones en diversos genes, que presentan hipopigmentación y además, afectación de diferentes órganos y desarrollo de otras manifestaciones clínicas (Hermansky-Pudlak, Chediak- Higashi, Griscelli y Waardenburg). Aunque gracias a recientes investigaciones se ha obtenido información nueva de estas mutaciones y los genes a los que alteran, se sabe que quedan por descodificar numerosas mutaciones y se estima que aún faltan por descubrir alrededor de 400 genes que participan en la pigmentación humana ; Albinism is a rare genetic condition, which results in hypopigmentation in skin and eyes (oculocutaneous albinism, OCA) or just eyes (ocular albinism, OA). This is due to a reduced level or even a total lack of melanin, which further leads to visual deficits. At least seven different types of OCA are known, being the first four the ones, which occur most frequently, thus the ones which have been subject to greater investigation. A single type of OA is known to date. Albinism is the result of diverse mutations in genes associated with pigmentation. Albinism may also come in syndromic forms, although these are also caused by gene mutations. These syndroms result in hypopigmentation and they provoke the affectation of several organs and cause the appearance of a number of clinical manifestations (Hermansky-Pudlak, Chediak-Higashi, Griscelli and Waardenburg). Latest research has managed to unearth brandnew information on gene mutations responsible for albinism, as well as on the altered genes. However, a great number of mutations are expected to be still characterized and around 400 genes involved in human pigmentation are estimated to be still undiscovered ; Grado en Medicina