Results 91 to 100 of about 7,886 (197)

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

Albinism: Cultural and Ethnographic Perspectives in a Southern City [PDF]

, 2018
This research is focused on the lived experience of individuals with albinism, both OCA (oculocutaneous albinism) and OA (ocular albinism). The cultural aspects of albinism are what will be primarily looked at during this study, as it is what the ...
Green, Tabitha C
core   +1 more source

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients

, 2019
Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme.
Noureddine, Baha', Zahreddine, Hala, Shakar, Nadine, Zalloua, Pierre, Zahed, Laila, Haddad, Fadi, Rebeiz, Nelly   +6 more
core   +1 more source

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

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

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

Distribution of oculocutaneous albinism in Zimbabwe.

, 1996
A survey of 1.3 million schoolchildren in Zimbabwe identified a total of 278 pupils with oculocutaneous albinism (OCA), giving a prevalence of 1 in 4728. Pupils with OCA were identified in every province of the country, but the distribution was not even.
Lund, Patricia M.
core   +1 more source

Spectral correction of patients with oculo and oculocutaneous albinism

, 2000
Using of brown spectral filter in 45 children with oculo and oculocutaneous albinism increased visual acuity average 12%, increased contrast sensitivity in range - distinquishable frequency average on 13,4%, increased resistance to glare average 21 % -24%
Бора, Катерина Василівна
core  

The Role of Optical Coherence Tomography in an Atypical Case of Oculocutaneous Albinism: A Case Report

, 2012
Background: Oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair, skin and eyes. Ocular signs associated with the disease are nystagmus, decreased visual acuity, hypopigmentation of the retina, foveal
Francesca Simonelli, Enrico Surace, D'Alterio FM, Raffaella Brunetti Pierri, Francesco Testa, Francesco Maria D’Alterio, Rossi S, Di Iorio V, Surace E, Annagiusi Gargiulo, Simonelli F., Settimio Rossi, Brunetti Pierri R, Michele Della Corte, Testa F, Gargiulo A, Corte MD, Valentina Di Iorio   +17 more
core   +1 more source

Clinical and mutational characteristics of oculocutaneous albinism type 7 [PDF]

The purpose of this paper is to expand on the phenotype of oculocutaneous albinism type 7 (OCA7). We described three patients with OCA7: two from a consanguineous family of Kurdish origin and one patient of Dutch origin.
van Genderen, M. M., Kruijt, C. C., van Minderhout, H. M., de Wit, G. C., Schalij-Delfos, N. E., Zorgeenheid Oogheelkunde Medisch, Child Health   +6 more
core   +2 more sources