نتایج جستجو برای: linked retinitis pigmentosa
تعداد نتایج: 243752 فیلتر نتایج به سال:
in response to a genetic defect, the human retina has two major categories of response: to degenerate or not to work well. Ophthalmologists and vision scientists have been successful during the last century in discovering variations in clinical course, symptoms, funduscopic appearance, and measurements of visual function that distinguish scores of hereditary retinal diseases. Most of this categ...
This study was made on 100 patients with retinitis pigmentosa and 23 of their relatives. Their plasma, erythrocyte, and hair Zn and serum Cu levels were compared with those of a control group of 14 healthy persons. No statistically significant difference in these levels was found between the patients with retinitis pigmentosa and the relatives or controls.
OBJECTIVE To report discordant phenotypes, resulting from the same mutation in exon ORF15 (GenBank AF286472) of the retinitis pigmentosa GTPase regulator gene (RPGR) (GenBank U57629), in 2 presumed dizygotic twin brothers with X-linked retinal disease. METHODS The 2 brothers underwent complete ophthalmic examination that included best-corrected visual acuity, slitlamp biomicroscopy, and detai...
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