Results 11 to 20 of about 7,863 (174)

Oculocutaneous Albinism

JAMA Ophthalmology, 2021
Dr.
Gabriel, Bezerra Castaldelli, Ana Júlia, Bezerra Castaldelli, Volney, Anderson Castaldelli   +2 more
openaire   +3 more sources

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

Oculocutaneous albinism [PDF]

Orphanet Journal of Rare Diseases, 2007
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes.
Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen   +2 more
doaj   +3 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

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. [PDF]

PLoS ONE, 2015
Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively.The purpose of this study was to ...
Yun Wang, Zhi Wang, Mengping Chen, Ning Fan, Jie Yang, Lu Liu, Ying Wang, Xuyang Liu   +7 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

An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

Indian Journal of Ophthalmology, 2014
A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism ...
J Saravanan, A Rajendraprasad, S Priyadharshni   +2 more
doaj   +2 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

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

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   +1 more source

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