Results 81 to 90 of about 7,863 (174)

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

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  

An investigation into the psychosocial implications of Oculocutaneous Albinism. a case study of Manicaland Albino Association.

, 2013
The study sought to investigate the psychosocial implications of oculocutaneous albinism (OCA) among members of the Manicaland Albino Association in Mutare urban.
Mutasa, Fungai L.
core  

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

Eye Movement Changes in a Case of Oculocutaneous albinism

, 1994
Electronystagmography is an important method for differential diagnosis of central dizzness and peripherial dizzness. The study of eye movement is necessary for balance test.
이원상
core  

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