نتایج جستجو برای: gyrate atrophy
تعداد نتایج: 36545 فیلتر نتایج به سال:
Gyrate atrophy is a rare metabolic disease with autosomal recessive inheritance pattern characterised by hyperornithinemia and typical ocular findings. This report presents a 17-year-old intellectually challenged girl consulting for a progressive fall of visual acuity with night blindness. Fundus examination showed patches of chorioretinal atrophy with typical scalloped borders and peri vascula...
THE appearances of the fundi in choroideremia have fascinated ophthalmologists since the first cases were described by Mauthner (1871). This author differentiated the condition from retinitis pigmentosa. His two cases had night-blindness and constricted visual fields, but in addition there was marked choroidal atrophy giving a brilliant white appearance to the fundi, the retinal vessels were no...
Ornithine aminotransferase (OAT) deficiency (MIM: 258870) is a rare congenital metabolic disorder characterized by gyrate atrophy of the choroid and retina. Here, we report a 37-year-old male with gyrate atrophy of the choroid and retina who has been treated for 18 years. At the age of 7 years, the patient consulted an ophthalmologist due to progressive loss of vision. A large atrophied area wa...
Parts one and two of this series discussed nutritional and botanical treatments for cataracts, glaucoma, and retinal diseases (macular degeneration, diabetic retinopathy, retinopathy of the newborn, and retinitis pigmentosa). This review discusses nutritional treatments for asthenopia, blepharitis, chalazion, conjunctivitis (including giant papillary conjunctivitis), gyrate atrophy of the choro...
It has come to the attention of the authors that in their Report, “Evaluation of candidate biomarkers to predict cancer cell sensitivity or resistance to PARP-1 inhibitor treatment,” in the October 15, 2012 issue of Cell Cycle, an important source of funding was omitted. Dr M. Mistrik was supported by the GACR grant no. 301/11/P554. Correction to Oplustilova L, et al. Cell Cycle Volume 11, Issu...
OBJECTIVE To assess the course of change of visual function outcome variables in 5 patients with gyrate atrophy before a gene replacement therapy clinical trial. METHODS The outcome variables selected were visual field sensitivity and electroretinogram amplitude. The course of change of these outcome variables was determined by calculation of their half-lives. RESULTS In the 4 to 6 years du...
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