Results 81 to 90 of about 4,797 (115)

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

Clinical features and mutations for four Chinese patients of Oculocutaneous albinism.

, 2015
* A novel mutation.Clinical features and mutations for four Chinese patients of Oculocutaneous albinism.
Ning Fan (731019), Lu Liu (171341), Xuyang Liu (310954), Zhi Wang (193655), Yun Wang (32846), Mengping Chen (731018), Jie Yang (121778), Ying Wang (11406)   +7 more
core   +1 more source

Malignant Melanoma in a Patient with Oculocutaneous Albinism

, 2000
Background: Sun-induced malignancies (basal cell and squamous cell carcinomas) are common in oculocutaneous albinism, however, the incidence of malignant melanoma is a topic of controversy.
David McCready, Catherine J. Streutker, Lynn From, Kowichi Jimbow   +3 more
core   +1 more source

Visual deficits in Nepalese patients with oculocutaneous albinism.

, 2020
Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism ...
Pokharel, Amrit, Khanal, Safal, Kandel, Himal   +2 more
core   +1 more source

Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2

Frontiers in Pediatrics
Oculocutaneous albinism (OCA) is a condition inherited in an autosomal recessive manner, leading to reduced pigmentation in the skin, hair, and eyes. Oculocutaneous albinism type 2 (OCA2) is one of the most common forms of OCA, caused by OCA2 mutations ...
Lei Luo, Min Ma, Yanzhang Yang, Hui Zhao
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