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Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene and characterized by progressive(More)
BACKGROUND To protect from erosion of the tube in glaucoma drainage device (GDD), the tube is covered by a biologic tissue which is roofed by the conjunctiva. Sclera, pericardium, dura mater and cornea are available as a patch graft. Drawbacks of some of these materials may include high cost and poor appearance. The purpose of this study is to report the(More)
PURPOSE To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family. METHODS Patients underwent a detailed ophthalmic evaluation, including eye examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked(More)
We report a 16-year-old healthy boy who presented with sudden loss of vision in both eyes, accompanied by a mild headache. Magnetic resonance imaging showed a chiasmal apoplexy. An urgent craniotomy revealed a cavernous malformation of the chiasm, which was evacuated. There was a subsequent dramatic improvement in bilateral visual acuity and visual field(More)
Purpose To investigate the genetic basis for severe visual complaints by Bukharan Jewish patients with oculopharyngeal muscular dystrophy (OPMD). Methods Polymerase chain reaction amplification and direct sequencing were used to test for NRL, PABPN1, and NR2E3 mutations. Complete ophthalmic examination included best-corrected visual acuity, biomicroscopic(More)
PURPOSE To describe a visually evoked potential (VEP) examination performed on a patient with a keratoprosthesis. METHODS We report the case of a 60-year-old patient with a Fyodorov-Zuev keratoprosthesis in the right eye complained of gradual visual deterioration in that eye. His past medical history consisted of failed corneal graft procedures due to(More)
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