نتایج جستجو برای: congenital retinitis pigmentosa
تعداد نتایج: 128326 فیلتر نتایج به سال:
in patients with nonarteritic anterior ischemic optic neuropathy. Differential diagnosis of concentric visual field defects using electrophysiological methods. patterns of cone degeneration in retinitis pigmentosa with concentric narrowing of the visual field. electroretinograms and visual evoked potentials in retinitis pigmentosa. Documenta of multifocal electroretinograms obtained under monoc...
PURPOSE To report case of retinitis pigmentosa in association with rhegmatogenous retinal detachment. METHODS An eight year old boy complained of a sudden visual loss. The patient had night blindness, bone spicule-like hyperpigmentation, pale optic disc in both eyes, and the retina was totally detached in the right eye. RESULTS He was initially treated with conventional scleral buckling sur...
Six patients with various forms of retinitis pigmentosa who were misdiagnosed as having neurologic disease are presented. In five of the patients, visual field defects were misinterpreted as being secondary to a neurologic rather than a retinal problem. In two patients, optic nerve drusen, which accompanied the retinal degeneration, were mistaken for papilledema. Since the diagnosis of retiniti...
DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence...
A form of autosomal dominant retinitis pigmentosa (ADRP) mapping to chromosome 17p has been reported in a single large South African family. We now report a new family with severe early onset ADRP which maps to 17p. Linkage and haplotype analysis in this family places the ADRP locus in the 5 cM interval between markers AFMc024za5 and D17S1845, confirming the data obtained in the South African f...
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