Results 11 to 20 of about 5,505 (212)
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 +2 more
doaj +3 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
[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
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 +2 more
doaj +1 more source
Retinal cone photoreceptors of the deer mouse Peromyscus maniculatus : development, topography, opsin expression and spectral tuning [PDF]
, 2013 A quantitative analysis of photoreceptor properties was performed in the retina of the nocturnal deer mouse, Peromyscus maniculatus, using pigmented (wildtype) and albino animals.
Arbogast, Patrick +2 more
core +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 +1 more source
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 +4 more
doaj +1 more source
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]
, 2017 Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core +2 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.
A Yakubu +33 more
core +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 +2 more
doaj +3 more sources