Altered whole‐brain connectivity in albinism
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DOI: 10.1002/hbm.23414
Abstract: Albinism is a group of congenital disorders of the melanin synthesis pathway. Multiple ocular, white matter and cortical abnormalities occur in albinism, including a greater decussation of nerve fibres at the optic chiasm, foveal hypoplasia… read more here.
Keywords: group; albinism; brain; brain connectivity ... See more keywords
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23647
Abstract: Oculocutaneous albinism (OCA) is a group of heterogeneous genetic disorders characterized by abnormal melanin synthesis in the hair, skin, and eyes. OCA exhibits obvious genetic and phenotypic heterogeneity. Molecular diagnosis of causal genes can be… read more here.
Keywords: diagnosis; albinism; oculocutaneous albinism; analysis prenatal ... See more keywords
Long-term vision outcomes for patients with albinism and diabetic retinopathy
Sign Up to like & getrecommendations! Published in 2022 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-021-05313-x
Abstract: Albinism defines a group of genetic diseases which result from disordered melanin biosynthesis. Proliferative diabetic retinopathy (PDR) results from poorly controlled type 1 or 2 diabetes mellitus (DM) and can lead to blindness due to… read more here.
Keywords: albinism; vision; group; patients albinism ... See more keywords
Living with albinism in an African community: exploring the challenges of persons with albinism in Lilongwe District, Malawi
Sign Up to like & getrecommendations! Published in 2021 at "Heliyon"
DOI: 10.1016/j.heliyon.2021.e07034
Abstract: Background Albinism is a genetic condition caused by a deficit in the production of the pigment called melanin, which protects the skin against ultraviolet light and provides the skin with its color production. The condition… read more here.
Keywords: district malawi; albinism; lilongwe district; persons albinism ... See more keywords
Understanding pseudo-albinism in sole (Solea senegalensis): a transcriptomics and metagenomics approach
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-49501-6
Abstract: Pseudo-albinism is a pigmentation disorder observed in flatfish aquaculture with a complex, multi-factor aetiology. We tested the hypothesis that pigmentation abnormalities are an overt signal of more generalised modifications in tissue structure and function, using… read more here.
Keywords: gut; albinism; pseudo albino; pigmentation ... See more keywords
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2135109
Abstract: ABSTRACT Background Oculocutaneous albinism (OCA) could be either non-syndromic or syndromic. There are significant challenges in clinically recognizing and differentiating Hermansky-Pudlak syndrome (HPS) from non-syndromic OCA. Materials and Methods In a prospective consecutive case series,… read more here.
Keywords: albinism; foveal development; hair; oca ... See more keywords
Accommodation and near visual function in children with albinism
Sign Up to like & getrecommendations! Published in 2019 at "Acta Ophthalmologica"
DOI: 10.1111/aos.14040
Abstract: Albinism degrades visual function due to developmental disorders of the eye and visual pathways, larger refractive errors, absent binocularity and poor fixation control. Reading spectacles is commonly prescribed in our clinic and well tolerated. The… read more here.
Keywords: function children; albinism; accommodation near; near visual ... See more keywords
Abstracts from the 2022 European Association for Vision and Eye Research Festival, 13-15 October 2022, Valencia.
Sign Up to like & getrecommendations! Published in 2022 at "Acta ophthalmologica"
DOI: 10.1111/j.1755-3768.2022.0616
Abstract: PURPOSE Albinism refers to a group of genetic disorders typically characterized by a loss/reduction of melanin in the hair, skin and eyes of affected patients. Apart from pigment changes, all albinism patients present with foveal… read more here.
Keywords: ganglion; optic nerve; albinism; ganglion cells ... See more keywords
Extending records of albinism and skin disorders in American cownose rays to southeastern Brazil.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of fish biology"
DOI: 10.1111/jfb.15463
Abstract: Albinism is a genetic condition expressed as a lack of integumentary and retinal melanin. While documented across many vertebrate species, albinism and other skin disorders are rarely observed in elasmobranchs (sharks and rays). Here, we… read more here.
Keywords: cownose rays; albinism skin; albinism; southeastern brazil ... See more keywords
Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild Bleeding
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-109829
Abstract: Qualitative disorders of platelets are often missed at clinical evaluation. Hermansky-Pudlak (HPS) syndrome is a rare genetic metabolic disorder with subtype specific clinical associations most prevalent in Puerto Rico with strong link to consanguinity. HPS… read more here.
Keywords: disorder; albinism; disease; missense variant ... See more keywords
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0842-7
Abstract: BackgroundOculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for… read more here.
Keywords: albinism; novel mutations; four novel; oculocutaneous albinism ... See more keywords