نتایج جستجو برای: congenital retinitis pigmentosa
تعداد نتایج: 128326 فیلتر نتایج به سال:
This work is licensed under a Creative Commons Attribution 3.0 License. "mTORC1 sustains vision in retinitis pigmentosa" (2015).
Defects in myosin VIIa are responsible for Usher Syndrome 1B (Weil et al., 1995). Human Usher syndrome (USH), named after the British ophthalmologist Charles Usher (Usher, 1914), is the most common hereditary form of combined blindand deafness (≈ 50 % of cases in the developed countries). USH designates a group of clinically and genetically heterogeneous disorders with hearing loss and retiniti...
Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only...
Ten patients with the incomplete type of congenital stationary night blindness (CSNB) were examined with a 30 Hz flicker electroretinogram (ERG). After 30 min of dark adaptation, 30 Hz flicker ERG was recorded continuously for 12-15 min under white background illumination. All patients showed an exaggerated increase of amplitude and a universal characteristic change of wave shape as the light a...
CASE REPORT A 25-year-old woman, with metamorphopsia in her left eye of one year onset. The examination revealed a bilateral cystoid macular oedema (CME) and vascular attenuation. We describe the diagnostic tests, as well as differential diagnosis and treatment response with carbonic anhydrase inhibitors. DISCUSSION The retinitis pigmentosa sine pigment is a subtype of atypical retinitis pigm...
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...
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