نتایج جستجو برای: albinism
تعداد نتایج: 7091 فیلتر نتایج به سال:
In albinism, the number of ipsilaterally projecting retinal ganglion cells (RGCs) is significantly reduced. The retina and optic chiasm have been proposed as candidate sites for misrouting. Since a correlation between the number of lateral geniculate nucleus (LGN) relay neurons and LGN size has been shown, and based on previously reported reductions in LGN volumes in human albinism, we suggest ...
PURPOSE In albinism, part of the temporal retina projects abnormally to the contralateral hemisphere. A residual misprojection is also evident in feline carriers that are heterozygous for tyrosinase-related albinism. This study was conducted to test whether such residual abnormalities can also be identified in human carriers of oculocutaneous tyrosinase-related albinism (OCA1a). METHODS In ei...
OCULAR albinism is a form of incomplete albinism in which the lack of pigment is chiefly confined to the eyes. The condition is relatively rare, but since it was described for the first time by Nettleship (1909), it has occasionally been demonstrated in various families. Nettleship was aware that the disease-producing gene was sex-linked, but assumed it to be recessive; recent investigations ha...
CLINICAL CASE A 35-year-old female patient with blurred vision since childhood, for which no treatment had been given, presented with poor visual acuity. She had white skin and fair yellow hair. There were several well circumscribed deposits in the central and anterior corneal stroma, and iris transillumination and foveal hypoplasia were evident. The clinical diagnosis was oculo-cutaneous albin...
Albinism is an inherited skin pigmentation condition which affects all races in the world. However, more conspicuous among black population because of absence leads to some whitish appearance. This also multiple disabling experiences individuals with albinism. The overriding aim study was establish learning learners albinism both regular and special schools. located within interpretive qualitat...
BACKGROUND Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. METHODS Clinical exams and paraclinical test were performed for all patients of the case family, also...
This study investigated the psychological situation of secondary school students with albinism in Tanzania. Particularly, focuses on levels stress among albinism. The was approached quantitatively and a sample 80 Shinyanga region Tanzania surveyed. Data were collected using questionnaires analyzed by frequencies percentages. Further, t-test used to test hypothesis. results indicated that 52.6% ...
Background: Oculocutaneous albinism is a disease with an autosomal recessive inheritance pattern in most cases. People with Oculocutaneous albinism face many health, psychological and financial issues. In this study, we report a unique village of Bhatti tribe in Jacobabad District, Pakistan, in which 40 children and adults with albinism live. The aim of this study was to observe the patte...
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