نتایج جستجو برای: oca1a albinism

تعداد نتایج: 7091  

2013
Sepideh Tavakolizadeh Azadeh Farahi

It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. The presence of retino-geniculo-cortical misrouting, a hallmark of the visual system in albinism, does not necessarily cause total loss of binocular vision, however, not even in albino patients with strabismus. Recently some degrees of stereopsis were reported ...

Journal: :Indian pediatrics 1994
R P Singh P Gupta Santendra B Sen

Chediak-Higashi syndrome (CHS), an autosomal recessive defect of polymorphonuclear leucocytic function is characterized by increased susceptibility to pyogenic infections, oculocutaneous albinism, neutropenia and presence of abnormal granules in leucocytes. This rare disorder has been described in approximately 80 cases from world over including three reports from India since its first descript...

Journal: :Journal of medical genetics 1988
D Castle J Kromberg R Kowalsky R Moosa N Gillman E Zwane V Fritz

Visual evoked potential testing was performed on 15 Negro carriers of the gene for tyrosinase positive oculocutaneous albinism in order to detect whether they have the same visual pathway decussation anomalies as do homozygotes. No subject showed 01-02 asymmetry on monocular testing, indicating that decussation follows the normal pattern. It is concluded that visual evoked potential testing is ...

Journal: :Molecular vision 2007
Alessandro Iannaccone Kevin T Gallaher Janda Buchholz Barbara J Jennings Maureen Neitz D J Sidjanin

PURPOSE Our goal was to evaluate the OA1 gene, also known as G-protein coupled receptor 143 (GPR143), in two United States families, one from the mid-west and one from the mid-south, who had clinical features of X-linked ocular albinism. Both families had previously tested negative for mutations. METHODS Selected family members underwent a detailed ophthalmologic evaluation. Blood samples wer...

Journal: :Health education research 2002
Patricia M Lund Retha Gaigher

The genetic condition albinism has a high frequency among the Sotho people of northern South Africa. Affected children have pale hair, eyes and skin-a dramatic contrast to the normal dark pigmentation. Their visual performance is poor and many attend special schools for the visually impaired. Children with albinism experience problems that are, on the one hand, physiological, and, on the other,...

Journal: :Behavior genetics 1981
R J Katz R L Doyle

The influence of albinism upon initial activity in novel surroundings was examined using coisogenic and congenic lines of mice. In comparison with those of previous studies, an extended test interval was used, and this modification produced significant main and interaction effects of the c locus upon activity for both lines. The present findings confirm and extend those of previous studies upon...

2012
Samson K Kiprono John E Masenga Baraka M Chaula Bernard Naafs

BACKGROUND Skin flora varies from one site of the body to another. Individual's health, age and gender determine the type and the density of skin flora. METHODS A 1  cm² of the skin on the sternum was rubbed with sterile cotton swab socked in 0.9% normal saline and plated on blood agar. This was cultured at 35 °C. The bacteria were identified by culturing on MacConkey agar, coagulase test, ca...

2014
Nicholas W Bellono Iliana E Escobar Ariel J Lefkovith Michael S Marks Elena Oancea

Intracellular ion channels are essential regulators of organellar and cellular function, yet the molecular identity and physiological role of many of these channels remains elusive. In particular, no ion channel has been characterized in melanosomes, organelles that produce and store the major mammalian pigment melanin. Defects in melanosome function cause albinism, characterized by vision and ...

2001
Nezih Özdemir Ayten Kayı Cangır Hakan Kutlay

Oculocutaneous albinism is a rare autosomal recessive disorder characterized by general depigmentation, nystagmus, photophobia, and decreased visual acuity. Malignant melanoma is extremely rare in patients with albinism. We present a 41-year-old albino male patient, who was admitted with a suspected bronchogenic carcinoma. He underwent a pulmonary resection and the diagnosis was primary malign ...

Journal: :British Journal of Ophthalmology 1990

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید