نتایج جستجو برای: oca1a albinism

تعداد نتایج: 7091  

Journal: :Archivos de la Sociedad Espanola de Oftalmologia 2006
M Gómez-Valcárcel J L Ching-Wong O Alvarez-Verduzco A Niño-Pecina C Villanueva-Mendoza

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...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2017

Journal: :European Journal of Physical Education and Sport Science 2021

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...

Journal: :Indonesian Journal of Community and Special Needs Education 2022

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% ...

Journal: :The Boston Medical and Surgical Journal 1860

Azam Jah Samdani Bahram Khan Khoso

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...

Journal: :Transactions of the American Ophthalmological Society 1944
C P Clark

Pigment in animal tissue results from the union of 2 substances: a colorless chromogen and a ferment or enzyme which activates the chromogen. Where either of these is absent there is no pigment, or, if present but in insufficient amount, the tissue is lacking in pigment in a proportionate degree. Lack of pigment in tissue is known as albinism. It is a hereditary genetic defect. The entire body ...

Journal: :Investigative ophthalmology & visual science 1996
F Tremblay I De Becker C Cheung G R LaRoche

PURPOSE To investigate a proposed postretinal defect in patients with the incomplete form of congenital stationary night blindness (CSNB2) and to compare visual evoked potential (VEP) results with those found in various forms of albinism. METHODS Visual evoked potentials were performed in 10 patients with a diagnosis of CSNB2, 10 subjects with albinism, and 17 normal subjects. Visual evoked p...

Journal: :Health education research 2001
P M Lund

Albinism is a relatively common genetic condition in Zimbabwe, a tropical country in southern Africa. Those affected have little pigment in their hair, skin or eyes, in sharp contrast to the normal dark pigmentation. This article describes the responses to a self-report questionnaire covering health, social and educational aspects completed by 138 schoolchildren with albinism living in rural ar...

Journal: :Archives of ophthalmology 2009
Gabriel T Chong Sina Farsiu Sharon F Freedman Neeru Sarin Anjum F Koreishi Joseph A Izatt Cynthia A Toth

OBJECTIVES To evaluate the spectrum of foveal architecture in pediatric albinism and to assess the utility of spectral-domain optical coherence tomography (OCT) in ocular imaging of children with nystagmus. METHODS Spectral-domain OCT imaging was performed on study subjects in 3 groups: subjects with ocular albinism (OA) or suspected OA with foveal hypoplasia, with nystagmus, and with or with...

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