نتایج جستجو برای: albinism
تعداد نتایج: 7091 فیلتر نتایج به سال:
To the Editor: Albinism is a genetically heterogeneous group of disorders characterized by reduced melanin biosynthesis that primarily affects the skin and/or the eye (1). All known genetic causes are autosomal recessive except for X-linked isolated ocular albinism [Nettleship-Falls or OA1, GPR143 (G-protein coupled receptor 143)] (1). A total of 18 different genes have been identified to date,...
Human albinism is characterized by a disturbance of the chiasmatic projection system leading to predominant representation of just one eye in the contralateral hemisphere. Patients show congenital nystagmus without perceiving oscillopsia. The purpose of the present study was to demonstrate the consequences of atypical chiasmatic crossing with monocular visual stimulation using functional magnet...
Albinism is a genetic disorder in which there defect melanin production, pigment gives color to the skin, hair and eyes. This congenital malformation can also occur sea turtles, although it not fatal, but reduces their chances of survival natural environment. Even so, are still no reports its occurrence Eretmochelys imbricata, species known as hawksbill turtle or legitimate turtle, with wide di...
Our objective was to measure how the misrouting of retinal ganglion cell (RGC) fibers affects the organization of the optic chiasm and lateral geniculate nuclei (LGN) in human albinism. We compared the chiasmal structures and the LGN in both pigmented controls and patients with albinism by using high-resolution structural magnetic resonance imaging (MRI). We studied 12 patients with oculocutane...
The current study presents findings on the occurrence of partial albinism (leucism) in a bird species, Red-vented Bulbul Pycnonotus cafer (Linnaeus, 1766) Rajgir Wildlife Sanctuary located Nalanda district Bihar, India. Various anomalies color patterns result conditions such as Albinism, Erythrism, Melanism, Xanthism, and Schizochromism. These are characterized by alterations pigmentation conce...
We report two bird species with pigment anomalies, which were seen in Cali, Colombia 2020. The individuals were, a female Shiny Cowbird (Molothrus bonariensis) partial leucism, Ruddy Ground-Dove (Columbia talpacoti) leucism and young nestling of the same species, albinism. records reported here are first albinism for Columbia talpacoti Molothrus bonariensis Colombia.
BACKGROUND In human albinism the plasticity of the visual system is challenged, as part of the temporal retina projects abnormally to the contralateral hemisphere. AIM To investigate whether the sensitivity of the abnormally projecting temporal retina is preserved. METHODS Light spot detection sensitivities were assessed in the central 20 degrees of the visual field in 15 patients with albi...
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, al...
Abstract Albinism, derived from the Latin word albus meaning white, is a rare genetic condition characterized by an absence of melanin leading to individual having pale skin, eyes and hair. It believed that Tanzania has highest rate albinism in Africa with autosomal recessive gene being carried one 19 Tanzanians impacting 1400 people (Cruz-Inigo AE, Ladizinski B, Sethi A. Albinism Africa: stigm...
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