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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

Unsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism

American Journal of Ophthalmology Case Reports
Purpose: To report a case of unsuccessful transscleral cyclophotocoagulation in a patient with OCA1A tyrosinase-negative oculocutaneous albinism.
John H Fingert, Erin A Boese
exaly   +3 more sources

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

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

Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2 [PDF]

Frontiers in Pediatrics
Oculocutaneous albinism (OCA) is a condition inherited in an autosomal recessive manner, leading to reduced pigmentation in the skin, hair, and eyes. Oculocutaneous albinism type 2 (OCA2) is one of the most common forms of OCA, caused by OCA2 mutations ...
Lei Luo, Min Ma, Yanzhang Yang, Hui Zhao
doaj   +2 more sources

Foveal hypoplasia in oculocutaneous albinism: An optical coherence tomography study

African Vision and Eye Health, 2023
Background: Albinism is an inherited condition characterised by a lack of pigmentation. Foveal hypoplasia, which occurs because of disruptions in normal foveal development, is commonly observed in albinism.
Ethan Pillay, Nishanee Rampersad
doaj   +1 more source

Stacked implantation of two prosthetic iris devices for patients with iris defects: A modified surgical technique

American Journal of Ophthalmology Case Reports, 2023
Purpose: Iris pigment deficiency in patients with oculocutaneous albinism (OCA) often causes debilitating photophobia, which is routinely managed by sequential intracapsular insertion of two aniridia rings.
David Ethan Rabinovitch, Ralf Buhrmann, Devesh K. Varma   +2 more
doaj   +1 more source

[Oculocutaneous albinism]. [PDF]

Journal francais d'ophtalmologie, 2013
Review on Oculocutaneous Albinism, with data on clinics, and the genes involved.
A, Sauer, C, Speeg-Schatz
  +7 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   +1 more source

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   +1 more source

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   +3 more sources