ALLMedicine™ Albinism Center
Research & Reviews 1,113 results
https://doi.org/10.1136/bmjopen-2020-040992
BMJ Open; Taylor J, Bradbury-Jones C et. al.
Feb 24th, 2021 - Babies born with the genetic condition albinism lack pigment in their hair, skin and eyes due to compromised melanin production. This leads to poor vision and the risk of early death due to skin cancer. In Uganda, one of the least developed countr...
https://doi.org/10.1080/13816810.2021.1881979
Ophthalmic Genetics; Kessel L, Kjer B et. al.
Feb 22nd, 2021 - The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism and to evaluate a set of diagnostic criteria proposed recently by Kruijt et al. Genotype-phenotype associations in patients with a...
https://doi.org/10.1080/13816810.2021.1888129
Ophthalmic Genetics; Mendez R, Iqbal S et. al.
Feb 18th, 2021 - Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR v...
https://doi.org/10.1080/13816810.2021.1888128
Ophthalmic Genetics; Ehrenberg M, Bagdonite-Bejarano L et. al.
Feb 17th, 2021 - Background: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation (absence of diffuse transillumination or transparent retinal pigment typical for ...
https://doi.org/10.3233/RNN-201043
Restorative Neurology and Neuroscience; Battaglini L, Oletto CM et. al.
Feb 8th, 2021 - Several visual functions are impaired in patients with oculocutaneous albinism (OCA) associated to albinistic bilateral amblyopia (ABA). In this study, we aimed at exploring whether perceptual learning (PL) can improve visual functions in albinism...
Guidelines 1 results
https://www.sciencedirect.com/science/article/pii/S0365059619300583?via%3Dihub
An Bras Dermatology; Marcon CR,et al
Sep 29th, 2019 - Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultra...
Clinicaltrials.gov 1,131 results
https://doi.org/10.1136/bmjopen-2020-040992
BMJ Open; Taylor J, Bradbury-Jones C et. al.
Feb 24th, 2021 - Babies born with the genetic condition albinism lack pigment in their hair, skin and eyes due to compromised melanin production. This leads to poor vision and the risk of early death due to skin cancer. In Uganda, one of the least developed countr...
https://doi.org/10.1080/13816810.2021.1881979
Ophthalmic Genetics; Kessel L, Kjer B et. al.
Feb 22nd, 2021 - The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism and to evaluate a set of diagnostic criteria proposed recently by Kruijt et al. Genotype-phenotype associations in patients with a...
https://doi.org/10.1080/13816810.2021.1888129
Ophthalmic Genetics; Mendez R, Iqbal S et. al.
Feb 18th, 2021 - Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR v...
https://doi.org/10.1080/13816810.2021.1888128
Ophthalmic Genetics; Ehrenberg M, Bagdonite-Bejarano L et. al.
Feb 17th, 2021 - Background: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation (absence of diffuse transillumination or transparent retinal pigment typical for ...
https://doi.org/10.3233/RNN-201043
Restorative Neurology and Neuroscience; Battaglini L, Oletto CM et. al.
Feb 8th, 2021 - Several visual functions are impaired in patients with oculocutaneous albinism (OCA) associated to albinistic bilateral amblyopia (ABA). In this study, we aimed at exploring whether perceptual learning (PL) can improve visual functions in albinism...
News 19 results
https://www.mdedge.com/dermatology/article/214220/pigmentation-disorders/albinism-awareness-goes-global-dermatologists?channel=27980
Kari Oakes
Dec 12th, 2019 - A dermatologist-led nonprofit organization has entered into a partnership with the United Nations to achieve global progress towards greater inclusivity for people with albinism. Courtesy NYDG Foundation Ms.
https://www.sciencedirect.com/science/article/pii/S0365059619300583?via%3Dihub
An Bras Dermatology; Marcon CR,et al
Sep 29th, 2019 - Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultra...
https://www.medscape.com/viewarticle/889786
Dec 10th, 2017 - NAIROBI (Thomson Reuters Foundation) - Harrison Tanga knew that something was wrong as he walked into the labor ward in western Kenya to meet his newborn child. "I could see nurses whisper amongst themselves as I passed by," he told the Thomson Re...
https://www.mdedge.com/dermatology/article/76008/pigmentation-disorders/oculocutaneous-albinism
Consuelo V. David, MD, MSc
Jul 3rd, 2013 - Dr. Consuelo V.
https://www.mdedge.com/dermatology/article/57562/melanoma/hereditary-nonmelanoma-skin-cancer
Dec 1st, 2012 - Vasiliki Nikolaou, MD, Alexander J. Stratigos, MD, and Hensin Tsao, MD, PhD Cutaneous basal and squamous cell carcinomas are among the most frequent malignancies in the white population, with the annual incidence estimates ranging from 1 million t.