Oculocutaneous albinism
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism
... Oculocutaneous albinism (OCA) is an autosomal-recessive condi- tion characterized by reduced pigmentation of the hair, skin, and eyes (1, ...with albinism are limited to correction of refractive ...
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Temperature sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism
... recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye ...
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Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism
... Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experi- ence reduced visual acuity and substantially ...
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Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism
... Results: Thirty-five patients (70 eyes) diagnosed with complete oculocutaneous albinism were enrolled. Myopic astigmatism was the most common refractive error (40%). Compared with myopic patients, those ...
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Mutation analysis of a Chinese family with oculocutaneous albinism
... Oculocutaneous albinism (OCA) is a congenital and autosomal recessive disorder with an estimated prevalence of 1/17,000 worldwide. OCA is characterized by complete or partial lack of pigment in the skin, ...
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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
... Hypopigmentation of the skin, hair and eyes is a mani- festation of various inherited disorders, including non-syndromic oculocutaneous albinism (OCA), Hermansky-Pudlak syndrome (HPS), Chediak-Higashi ...
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Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W
... Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant either in the TYR or the OCA2 gene. ...
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<p>A case report for severe hand–foot skin reaction caused by chemotherapy with actinomycin D in a patient with oculocutaneous albinism</p>
... Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The main clinical manifestation is the deficiency of pigment in all parts of the body. The related clinical symptoms cannot be treated so ...
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A tyrosinase gene missense mutation in temperature sensitive type I oculocutaneous albinism A human homologue to the Siamese cat and the Himalayan mouse
... I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte ...of albinism seen in the Siamese cat ...
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Oculocutaneous albinism
... Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and ...of albinism varies considerably ...
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Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population
... Among the most visible phenotypic traits in humans is skin color. Loss of skin, hair and iris pigmentation, a condition known as oculocutaneous albinism (OCA), represents a significant load of human genetic ...
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Correlation of Macular Thickness, Multifocal ERG with Visual Acuity in Oculocutaneous Albinism (OCA)
... Background and Aim: Ocular albinism is known to have nystagmus and foveal hypoplasia. A study was done to evaluate the correlation of visual acuity with macular thickness (MT) and mf ERG. Materials and Methods: A ...
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A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1
... ocular albinism cases have this feature ...of albinism or caused by a defect in the melanin biosynthesis ...in albinism can be diffi- cult to ...ocular albinism showed that at least 69% ...
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Detailed Retinal Imaging In Carriers Of Ocular Albinism
... having oculocutaneous albinism ...ocular albinism (OA) is used. 3 Very rarely, albinism may be associated with additional syndromic features, leading to a diagnosis of Chediak-Higashi (CHS, ...
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Children with albinism in African regions: their rights to ‘being’ and ‘doing’
... with albinism are taught about and are enabled to imple- ment effective sun protection from an early ...for oculocutaneous albinism ...with albinism in a study in Zimbabwe, highlight- ing the ...
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Myths and Stereotypes: The Lived Experiences of People with Albinism
... of albinism could be unwritten better. The myths and realities of albinism depend on the society ...with Oculocutaneous albinism have been exposed to both positive and negative attitudes from ...
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Delineating the genetic heterogeneity of OCA in Hungarian patients
... Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of rare monogenic diseases characterized by diffuse reduced melanin production in the skin, hair, and/or eyes ...
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Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing
... (oculocutaneous albinism II (OCA2), tyrosinase-related protein 1 (TYRP1), dopachrome tautomerase (DCT), and KIT ligand (KITLG)) implicated in human skin-color variation, have shown evidence for positive ...
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Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
... partial albinism of hair, skin and eyes together with leukocyte ...and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, ...
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Vol 14, No 1 (2020)
... severe albinism type. Affected individuals have no pigment in Oculocutaneous albinism (OCA) is an inherited condition characterised by significantly reduced pigment in skin, hair and eyes, visual ...
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