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
In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3‐related mutant variants
Sign Up to like & getrecommendations! Published in 2022 at "Protein Science"
DOI: 10.1002/pro.4518
Abstract: Tyrosinase related protein 1 (TYRP1) is the most abundant melanosomal protein of the melanocyte, where plays an important role in the synthesis of eumelanin, possibly catalyzing the oxidation of 5,6‐dihydroxyindole‐2‐carboxylic acid to 5,6‐quinone‐2‐carboxylic acid. Mutations… read more here.
Keywords: tyrp1; domain; intramelanosomal domain; oculocutaneous albinism ... See more keywords
Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues
Sign Up to like & getrecommendations! Published in 2022 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-022-02335-1
Abstract: Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such as… read more here.
Keywords: epidemiology; albinism epidemiology; epidemiology genetics; oculocutaneous albinism ... See more keywords
Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-90896-y
Abstract: To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine… read more here.
Keywords: oculocutaneous albinism; patients oculocutaneous; foveal hypoplasia; dutch patients ... See more keywords
Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study
Sign Up to like & getrecommendations! Published in 2017 at "British Journal of Dermatology"
DOI: 10.1111/bjd.15687
Abstract: Herein we describe the usefulness of a successful combination of dermoscopy and in vivo RCM for the early diagnosis of 3 AM in 2 OCA patients OCA is a group of rare autosomal recessive disorders… read more here.
Keywords: melanoma; microscopy; dermoscopic; oculocutaneous albinism ... See more keywords
Abnormal foveal morphology in carriers of oculocutaneous albinism
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2020-318192
Abstract: Background/aims To investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study. Methods Handheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through… read more here.
Keywords: morphology carriers; carriers oculocutaneous; foveal; oca carriers ... See more keywords
A Case of Oculocutaneous Albinism in a Patient with Hashimoto’s Thyroiditis
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DOI: 10.1159/000493730
Abstract: Background: Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder characterized by reduced or absent melanin synthesis. Its prevalence is approximately one in 17,000 individuals worldwide. OCA causes a complete or partial absence of pigment… read more here.
Keywords: oculocutaneous albinism; hashimoto thyroiditis; thyroiditis; case ... 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
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0185944
Abstract: We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue… read more here.
Keywords: spitz dogs; oculocutaneous albinism; splice site; oca2 gene ... See more keywords
[Method of surgical treatment of patients with oculocutaneous albinism using artificial iris].
Sign Up to like & getrecommendations! Published in 2022 at "Vestnik oftalmologii"
DOI: 10.17116/oftalma202213801158
Abstract: Oculocutaneous albinism is a group of autosomal recessive disorders that directly affect the hypopigmentation of the skin, hair, and eyes. According to the World Health Organization, albinism occurs in 1 out of 20 000 people… read more here.
Keywords: treatment patients; albinism; surgical treatment; artificial iris ... See more keywords
A case report for severe hand-foot skin reaction caused by chemotherapy with actinomycin D in a patient with oculocutaneous albinism
Sign Up to like & getrecommendations! Published in 2019 at "OncoTargets and therapy"
DOI: 10.2147/ott.s195635
Abstract: Gestational trophoblastic neoplasms (GTN) are highly curable tumors, with an overall patient survival of 90%, due to the individualized chemotherapy. However, chemotherapy regimens vary between different treatment centers and the comparable benefits and risks of… read more here.
Keywords: severe hand; oculocutaneous albinism; foot skin; drug ... See more keywords