Results 11 to 20 of about 7,886 (197)

Oculocutaneous Albinism

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

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

Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature

Journal of Medical Case Reports
Background Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin.
Qian Ma, Weiwei Wang
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

Identification of Pathogenic Mutation c.286dupA in TYR Gene in an Individual with Oculocutaneous Albinism Using Exome Sequencing [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk
Introduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White
Parto Hekmatpou, Parnian Hekmatpou, Farideh Jalali Mashayekhi, Sahar Bayat, Milad Gholami   +4 more
doaj   +2 more sources

A New TYR Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle. [PDF]

Anim Genet
Animal Genetics, Volume 57, Issue 3, June 2026.
Eager KLM, Carter PD, Brancalion L, Willet CE, O'Rourke BA, Tammen I.   +5 more
europepmc   +2 more sources