Albinism - StatPearls - NCBI Bookshelf - National Center for ...
2023年8月14日 · Albinism, from the Latin albus, meaning "white," is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), yielding a characteristic pallor. The most commonly thought of presentation is that of oculocutaneous albinism (OCA).
Altered whole‐brain connectivity in albinism - PMC
2016年9月29日 · A graph‐theoretic model was applied to explore brain connectivity networks derived from resting‐state functional and diffusion‐tensor magnetic resonance imaging data in 23 people with albinism and 20 controls. They tested for group differences in connectivity between primary visual areas and in summary network organisation descriptors.
The clinical features of albinism and their correlation with visual ...
Graph showing the relation of the mean interhemispheric latency difference to the amplitude asymmetry index for all patients segregated by albino score. Table 2 presents the patients in approximately increasing order of strength of evidence for a diagnosis of albinism.
A multilayered approach to the analysis of genetic data from ...
In this article, we discuss clinical genetic testing in individuals who have features of albinism and propose a molecular diagnostic decision tree. An initial aim of genetic testing in individuals suspected of having albinism is the identification of single-nucleotide variants (SNVs) and copy number variants (CNVs) impacting albinism-related genes.
About albinism. Beyond Race, Ethnicity and Gender - OHCHR
Albinism is a rare, non-contagious, genetically inherited condition which occurs worldwide regardless of ethnicity or gender. It most commonly results in the lack of melanin pigment in the hair, skin and eyes (oculocutaneous albinism), causing vulnerability to sun exposure.
CHIASM, the human brain albinism and achiasma MRI dataset
2021年11月26日 · We present CHIASM, the human brain albinism, and achiasma dataset, a unique collection of magnetic resonance imaging (MRI) data of brains with congenital abnormalities in the visual system. The...
Spectrum Analysis of Albinism Genes in a Large Cohort of …
2021年11月24日 · Albinism is a genetically heterogeneous trait with a prevalence of 1:17,000 worldwide. At least 22 genes have been identified as the causative genes of albinism in humans. These involved 10 genes in nonsyndromic albinism and 12 syndromic albinism genes (Fernández et …
Albinism: Background, Pathophysiology, Epidemiology - Medscape
2024年1月23日 · Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. Albinism results from...
Albinism: epidemiology, genetics, cutaneous characterization ...
2019年9月1日 · Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin cancer.
Epidemiology of Albinism - ScienceDirect
2018年1月1日 · Albinism, which occurs in people of all ethnicities, affects about 1 in 17,000 people worldwide (Witkop, 1979), suggesting that 1 in 70 people carries a gene for one or other of the types of albinism (Gronskov et al., 2007).