نتایج جستجو برای: congenital stationary night blindness
تعداد نتایج: 223938 فیلتر نتایج به سال:
Patients with the complete form of congenital stationary night blindness (CSNB) often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a d...
Clinical and molecular genetic studies were performed on a single, large, white family, in which congenital nystagmus and moderate to high refractive error segregated as a sex linked trait with manifestation in some female carriers. In this family, affected males demonstrate myopia, but a high proportion of female carriers, and some of the possibly affected males, show hypermetropia. Clinical o...
PURPOSE This study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families. METHODS Two consanguineous families with multiple individuals manifesting symptoms of stationary night blindness were recruited. Affected individuals underwent a detailed ophthalmological examination, inclu...
X linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterised by decreased visual acuity and disturbance of night vision. CSNBX appears to be not only clinically but also genetically heterogeneous. On studying a single large family, we recently suggested the presence of a distinct locus for CSNBX in Xp21.1. Here, we describe the results of a linkage ...
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