Results 71 to 80 of about 2,978 (164)

Albinism in Africa as a public health issue

BMC Public Health, 2006
Background Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa.
Hong Esther S, Zeeb Hajo, Repacholi Michael H   +2 more
doaj   +1 more source

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Scientific Reports, 2017
Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes.
Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self   +17 more
doaj   +1 more source

Molecular detection of albinism gene in Brazilian buffalo herds (Bubalus bubalis)

Pesquisa Veterinária Brasileira
: Albinism is a genetic disease characterized by deficient melanin production making affected animals more susceptible to skin problems, negatively influencing production systems of the same.
Pedro N. Bernardino, Aline F.A. Martins, José D. Barbosa, Ana L. Schild, Maria Cecília F. Damé, Alexandre S. Borges, José P. Oliveira-Filho   +6 more
doaj   +1 more source

Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

Clinical Ophthalmology, 2014
Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis.
Masuda N, Hasegawa T, Yamashita M, Ogata N   +3 more
doaj  

Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case

Molecular Genetics & Genomic Medicine
Background Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the SLC45A2 gene variants.
Danyue He, Xiaonan Liu, Tianyu Yao, Jie Hu, Xiaodong Zheng, Lili Tang, Xing Fan   +6 more
doaj   +1 more source

A Case of Hermansky–Pudlak Syndrome

Journal of Association of Pulmonologist of Tamil Nadu
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There
A. Vasudevan, Gayathri Devi Anur Ramakrishnan   +1 more
doaj   +1 more source

Photoprotective behaviours amongst persons with albinism in Uyo, Nigeria

JEADV Clinical Practice
Background Strict photoprotection is crucial for persons living with albinism (PWAs), especially in Nigeria where the level of solar ultraviolet radiation is particularly high, which further increases the susceptibility of this population to develop ...
Edesiri E. Ighorodje, Charles N. Nga, Chinyere C. Atansi, Omolara Y. Ukpong, Morolayo O. Fabiyi, Udeme‐Abasi U. Nelson   +5 more
doaj   +1 more source

Oculocutaneous Albinism [PDF]

, 2020
openaire   +3 more sources

Spitz nevus in a patient with oculocutaneous albinism: dermoscopic and histopathologic correlation. [PDF]

An Bras Dermatol
Maya JAT, Ishioka P, Oliveira LRG, Marçon CR.   +3 more
europepmc   +1 more source

Mild Oculocutaneous Albinism Type 1B With Subtle Cutaneous Findings: A Dermatology-Oriented Case Report. [PDF]

Cureus
Montané C, Guarda D, Marquez P, Bascuñan G.   +3 more
europepmc   +1 more source