Update on Albinism

Hayashi, Masahiro; Suzuki, Tamio

doi:10.1007/978-3-319-70419-7_7

Cited by 5 publications

(2 citation statements)

References 62 publications

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“…Albinism is a general scientific terminology that describes conditions characterized by hypopigmentation of the skin resulting in a snow-white body with pink limbs, snouts, and ears (Hayashi and Suzuki, 2018;Menon, 2003). Albinos have poor vision or may even be blind, which puts them at a disadvantage when hunting for food and while escaping from predators, making them more susceptible to predation (Rall and Fahay, 1985).…”

Section: Resultsmentioning

confidence: 99%

First photographic record of albinism in Chital (Axis axis) from Bardia National Park, Nepal

Kadariya,

Bahadur KC,

Paudel

et al. 2023

Species

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Section: Resultsmentioning

confidence: 99%

First photographic record of albinism in Chital (Axis axis) from Bardia National Park, Nepal

Kadariya,

Bahadur KC,

Paudel

et al. 2023

Species

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“…Se ha identificado que la proteína SLC24A5 es necesaria para los melanosomas o para la producción de pigmento en los melanosomas maduros. Además el C100rfit es considerado un gen de diferenciación de melanocitos, responsable de AOC7, este gen migra desde la cresta neural por lo que está asociado con la migración de los melanocitos (36).…”

Section: Fisiopatologíaunclassified

Revisión bibliográfica sobre Albinismo Oculocutáneo y Ocular

Bravo Arcos,

Muñoz Moscoso,

Benavides Cordero

et al. 2023

Salud

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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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Comprehensive Review of the Genetics of Albinism

Jauregui

Huryn

Brooks

2018

Journal of Visual Impairment & Blindness

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Introduction It is important to understand albinism, since it is a disorder associated with visual impairment, predisposition to malignant melanomas, and social stigma. The main objective of this article is to review the genetics and biologic mechanisms of the non-syndromic albinism subtypes and to describe associated clinical manifestations. We also discuss research on its treatments. Methods A review of the published literature on albinism subtypes was performed, spanning basic laboratory research, published case reports, and experiences of people with albinism. Results Clear progress has been made in comprehending the causes of albinism; research has shed light on the complexity of the disorder and has led to the molecular classification of subtypes. Discussion Despite the increase in knowledge with regards to albinism, gaps still exist. It is important to continue the pursuit of unraveling the mechanism of the disorder and to monitor the frequency of the subtypes worldwide in order to aid in the development of treatments. Furthermore, disseminating knowledge of albinism is crucial for future progress. Implications for practitioners Albinism is a disorder characterized by hypopigmentation of the hair, skin, and eyes, with accompanying ocular abnormalities that remain relatively stable throughout life. The disorder is defined by a spectrum of pigmentation where albinism is more evident among individuals of dark complexion than their lighter-pigmented peers. Patients with albinism require protection against sun exposure and special resources to address visual impairments. When albinism patients are diagnosed and properly accommodated, they generally report a positive quality of life.

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Update on Albinism

Cited by 5 publications

References 62 publications

First photographic record of albinism in Chital (Axis axis) from Bardia National Park, Nepal

First photographic record of albinism in Chital (Axis axis) from Bardia National Park, Nepal

Revisión bibliográfica sobre Albinismo Oculocutáneo y Ocular

Comprehensive Review of the Genetics of Albinism

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