Revisión bibliográfica sobre Albinismo Oculocutáneo y Ocular
DOI:
https://doi.org/10.26871/killcanasalud.v7i2.979Palabras clave:
Albinismo, albinismo ocular, alteración genéticaResumen
Resumen
El albinismo es el conjunto de condiciones hereditarias en donde existe la disminución o ausencia de la pigmentación en piel y cabello, así como la pigmentación ocular, ocasionando albinismo ocular. Esta patología es de carácter hereditario y está ligado al cromosoma X, afectando en su mayoría a varones. Su origen está ligado al defecto del gen de la proteína G143 y su receptor, específicamente a una mutación de la enzima tirosinasa, productora de melanina. Es una enfermedad de presentación poco frecuente, con una incidencia de 1 por cada 60.000 habitantes, y sus diversos tipos se manifiestan alrededor del mundo con variaciones acorde a cada etnia y mutación genética. Los ojos y el sistema visual presentarán defectos anatómicos, ausencia de pigmentación en el iris, disminución de la agudeza visual, nistagmo, estrabismo y anormalidades en la funcionalidad refractaria. Su diagnóstico se realiza mediante el uso de criterios diagnósticos mayores y menores, relacionándose con su tratamiento respectivo, según sea el caso. El albinismo ocular no tiene cura permanente, por lo tanto, su manejo se centra en el control de la clínica presentada, con el objetivo de mejorar y mantener el estilo de vida del paciente.
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