Results 11 to 20 of about 3,749 (193)

The experience of people with oculocutaneous albinism

Health SA Gesondheid: Journal of Interdisciplinary Health Sciences, 2012
This article reports the experiences of people with oculocutaneous albinism in South Africa. Oculocutaneous albinism is an inherited disorder characterised by the defective production of melanin, with little or no pigmentation in the skin, hair and eyes.
Mmuso B.J. Pooe- Monyemore, Thandisizwe R. Mavundla, Arnold L. Christianson   +2 more
doaj   +4 more sources

Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

Journal of Medical Case Reports, 2008
Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism.
Bakare Muideen O, Ikegwuonu Nkeiruka N
doaj   +2 more sources

Genetic testing for ocular albinism and oculocutaneous albinism

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism.
Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +2 more sources

Oculocutaneous Albinism [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017
Review on Oculocutaneous ...
Ray, Kunal, Sengupta, Mainak, Ganguly, Kausik   +2 more
openaire   +3 more sources

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet Journal of Rare Diseases, 2019
Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with ...
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico   +11 more
doaj   +2 more sources

Molecular Basis of Oculocutaneous Albinism.

Journal of Investigative Dermatology, 1994
Oculocutaneous albinism (OCA) is a complex group of genetic disorders that have historically been defined by clinical and biochemical methods. Recent advances in the molecular biology of pigmentation have greatly increased our understanding of the complexity of this group of disorders.
Getting, William S, King, Richard A
openaire   +3 more sources

Albinism – symptomatology, aetiology, and therapy

Pediatria Polska
Albinism is a rare, genetically determined disorder of melanogenesis resulting in a reduction or complete absence of melanin in tissues of ectodermal origin, especially skin, hair, and irises of the eyes.
Beata Chałupczyńska, Elżbieta Ciara, Krystyna H. Chrzanowska, Agnieszka Madej-Pilarczyk   +3 more
doaj   +2 more sources

Co-occurrence of sickle cell disease and oculocutaneous albinism in a Congolese patient: a case report

Journal of Medical Case Reports, 2021
Background Sickle cell disease and oculocutaneous albinism are rare autosomal recessive disorders both related to mutations on chromosome 11. The diagnosis of patients suffering from both pathologies is necessary to enable dedicated monitoring of any ...
Benoît Mbiya Mukinayi, John Mpoyi Kalenda, Didier Kalombo Kalenda, Ghislain Disashi Tumba, Béatrice Gulbis   +4 more
doaj   +2 more sources

Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

Clinical Ophthalmology, 2013
André Omgbwa Eballé1,3, Côme Ebana Mvogo2, Christelle Noche4, Marie Evodie Akono Zoua2, Andin Viola Dohvoma21Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Douala, Cameroon, 2Faculty of Medicine and Biomedical ...
Eballé AO, Mvogo CE, Noche C, Zoua ME, Dohvoma AV   +4 more
doaj   +1 more source

Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports

Sultan Qaboos University Medical Journal, 2010
Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported.
B R Keshav, Mahmood J Mohammed, Nasir Mahmood   +2 more
doaj   +2 more sources