Results 11 to 20 of about 4,797 (115)

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

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

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

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 [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

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   +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

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

, 2021
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an ...
BP Brooks (9883733), HJ Kuht (10129634), A Aamir (10129631), MG Thomas (7665839), K Grønskov (10134551)   +4 more
core   +7 more sources

A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. [PDF]

, 2017
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter.
V. Jagannathan, M. Caduff, A. Bauer, Caduff, M, Bauer, Anina, Jagannathan, Vidhya, Leeb, Tosso, T. Leeb   +7 more
core   +4 more sources

Skin Cancers Among Albinos at a University Teaching Hospital in Northwestern Tanzania: A Retrospective Review of 64 Cases. [PDF]

, 2012
Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed.
Rambau, Peter, Kamugisha, Erasmus, Nestory Masalu, Peter Rambau, Gilyoma, Japhet M, Phillipo L Chalya, Joseph B Mabula, Jaka, H., Giiti, G, Ssentongo Robert, Mchembe, Mabula D, Geofrey Giiti, Jaka, Hyasinta, Mabula D Mchembe, Masalu, N., Giiti, Geofrey, Robert, Ssentongo, Rambau, P., Erasmus Kamugisha, Robert, S., Chalya, Phillipo L, Masalu, Nestory, Gilyoma, J.M, Hyasinta Jaka, Mabula, J.B, Chalya, P.L, Japhet M Gilyoma, Kamugisha, E., Mabula, Joseph B, Mchembe, M.D   +29 more
core   +2 more sources