Results 81 to 90 of about 14,286 (195)

Oculocutaneous Albinism

Asia-Pacific Journal of Ophthalmology, 2023
Hongfei, Ye, Kerong, Mao, Peiquan, Zhao
openaire   +2 more sources

Can a Portable Flash Visual Evoked Potential (VEP) Device Identify Chiasmal Decussation Anomalies in Albinism?

Diagnostics
Background: Visual evoked potentials (VEPs) are used to detect chiasmal misrouting associated with albinism. However, VEPs are only performed in specialist centres and typically have long waiting lists.
Eloise Keeling, Perry Carter, Abdi Malik Musa, Fatima Shawkat, Helena Lee, Jay E. Self   +5 more
doaj   +1 more source

Bilateral atypical lamellar holes in a patient with oculocutaneous albinism

, 2020
Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition.
Acon, Dhariana, Negron, Catherin I, Patel, Nimesh A, McKeown, Craig, Berrocal, Audina M, Falcone, Michelle M, Yannuzzi, Nicolas A   +6 more
core   +1 more source

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

Biomedicines
Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of all ...
Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Ludmila Bessonova, Sofya Ionova, Daria Guseva, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev, Aleksander Polyakov   +11 more
doaj   +1 more source

Albinism and Partial Albinism in Tigers

, 1960
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
openaire   +2 more sources

Albinism. [PDF]

JAMA: The Journal of the American Medical Association, 1896
n ...
openaire   +1 more source

Albinism

The Journal of the East Africa and Uganda Natural History Society, 1919
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
openaire   +2 more sources

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

Albinism in Malawi : A qulitative Study on Attitudes and Beliefs [PDF]

, 2005
Albinism is an inherited, genetic condition. People with albinism exhibit little or no pigment in eyes, skin or hair, and often have problems with vision and sensitive skin.
Braathen, Stine Hellum
core  

Cultural Representations of Albinism in Africa : Narratives of Change

, 2022
The challenges currently faced by people with albinism in many African countries are increasingly becoming a focus of African writers, storytellers, artists and filmmakers across the continent. At the same time, an increasing number of NGOs and advocates

core