نتایج جستجو برای: oca1a albinism

تعداد نتایج: 7091  

2018
Anita Franklin Patricia Lund Caroline Bradbury-Jones Julie Taylor

BACKGROUND Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are a...

2015
Faravareh Khordadpoor-Deilamani Mohammad Taghi Akbari Morteza Karimipoor Gholamreza Javadi

PURPOSE Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal reces...

2006
STEPHEN T. WARREN

To the Editor: In a recent paper by Hu et al. [1], a one-locus, three-allele system is proposed for the three forms ofhuman oculocutaneous albinism. In table 3 of their report, tyrosinase-positive (ty-pos) and tyrosinase-negative (ty-neg) albinism are shown to be, respectively, the heterozygous and homozygous states of the t allele. Previous work by others, as well as their own data, would seem...

Journal: :BMC Public Health 2006
Esther S Hong Hajo Zeeb Michael H Repacholi

BACKGROUND Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa. Due to the lack of melanin, people with albinism are more susceptible to the harmful effects of ultraviolet radiation exposure. This population must deal with issues such as photophobia, decreased visual acuit...

Journal: :The British journal of ophthalmology 1998
S M Carden R E Boissy P J Schoettker W V Good

Albinism is no longer a clinical diagnosis. The past classification of albinism was predicated on phenotypic expression, but now molecular biology has defined the condition more accurately. With recent advances in molecular research, it is possible to diagnose many of the various albinism conditions on the basis of genetic causation. This article seeks to review the current state of knowledge o...

2015
Relebohile Phatoli Nontembeko Bila Eleanor Ross

Background: Partly because of the legacy of apartheid, and despite being a constitutional democracy, South Africa continues to be a deeply divided society, particularly along racial lines. In this context many people with albinism do not fit neatly into black and white categories and are likely to experience social discrimination and marginalisation. Objectives: The study endeavoured to explore...

2015
CM Attama R Uwakwe GM Onyeama MN Igwe

BACKGROUND Skin, which is the largest organ in the body, carries immense psychological significance. Disfiguring skin disorders may impact negatively on the mental health of individuals. AIM This study compared the psychiatric morbidity of subjects with leprosy and albinism. SUBJECTS AND METHODS One hundred subjects with leprosy and 100 with albinism were interviewed. Sociodemographic quest...

Journal: :علوم باغبانی ایران 0
رضا فتوحی قزوینی غلامعلی پیوست حسین آذریان

to determine the effect of pot level and nutrient leaching on albinism disorder in strawberry (fragaria ananassa duch cv `camaroso`) cultivated in perlite substrate an experiment was conducted in 2006. yield was determined three times (january-february, march-april and may-june). the results indicated that plants located in an upper position showed more albinism (40.42%) which could be related ...

Journal: :Vision Research 2010
John T. McAllister Adam M. Dubis Diane M. Tait Shawn Ostler Jungtae Rha Kimberly E. Stepien C. Gail Summers Joseph Carroll

Albinism, an inherited disorder of melanin biosynthesis, disrupts normal retinal development, with foveal hypoplasia as one of the more commonly associated ocular phenotypes. However the cellular integrity of the fovea in albinism is not well understood - there likely exist important anatomical differences that underlie phenotypic variability within the disease and that also may affect responsi...

Journal: :The Yale Journal of Biology and Medicine 1961
Thomas P. Kugelman Aaron B. Lerner

Albinism, partial albinism, and vitiligo are three clinically distinct conditions having in common a deficiency of melanin pigment. As such they present the physician with the same basic problems-cosmetically disfiguring lesions and extreme sensitivity to sunlight of the involved areas. None of the diseases is itself an immediate threat to life, but the social disabilities, especially among dar...

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