Lotta Gränse

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Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a(More)
PURPOSE To characterize the clinical phenotype, with emphasis on electrophysiology, of two children with suspected Bothnia dystrophy. METHODS Two unrelated affected patients, 10 and 11 years old, were studied. Ophthalmological examination included testing of visual acuity, fundus inspection and fundus photography, kinetic perimetry, full-field(More)
Purpose: To determine whether long-term treatment with the anti-epileptic drug vigabatrin causes damage to rabbit retina. Methods: Five rabbits were treated continuously with a daily dose of vigabatrin solution per orally during a period of 1–8 months. Two rabbits receiving water were used as controls. Repeated full-field electroretinograms (every two(More)
PURPOSE To evaluate (with three different electrophysiological methods) the residual retinal function in a selected group of patients with retinitis pigmentosa and remaining small central visual fields. METHODS Fourteen patients from several different genetic subgroups, who had been followed with visual acuity and visual field testing for periods up to 32(More)
OBJECTIVE To characterize the clinical phenotype, with emphasis on electrophysiology and blood flow measurements, of a family with dominant optic nerve atrophy and an identified mutation in the OPA1 gene. METHODS Seven family members were examined. Ophthalmological evaluation included testing of visual acuity, ophthalmolscopy, kinetic perimetry, color(More)
PURPOSE To examine retinal function in a patient with decreased vision possibly due to treatment with methotrexate. METHODS Ophthalmological examination included testing of visual acuity (VA), fundus inspection, fundus photography, and kinetic perimetry. Retinal function was tested objectively with three electrophysiological methods: full-field(More)
PURPOSE To describe the clinical and electrophysiological findings in a young boy with decreased vision possibly due to retinal damage by rifabutin. METHODS An 8-year-old boy with osteomyelitis was referred due to visual disturbance. During a period of 4 years, the boy was examined six times with electroretinography. Ophthalmological examination included(More)
PURPOSE To characterize the clinical phenotype regarding retinal function and macular appearance in patients with spinocerebellar ataxia type 7 (SCA 7), with an emphasis on electrophysiological findings. METHODS Three patients from two Swedish families were given an ophthalmological examination including visual acuity, fundus inspection, Farnsworth's(More)
UNLABELLED Previously not shown this study support that mfVEP is an indicator of optic nerve neuropathy in diabetic patients and there could be a correlation between the optic nerve dysfunction and diabetic poly neuropathy. The early optic nerve involvement might explain some of the visual complain in this group of diabetic patients. PURPOSE To(More)
PURPOSE This report aimed to investigate alterations in multifocal visual evoked potentials (mfVEPs) during the acute stage of Leber's hereditary optic neuropathy (LHON). METHODS A 27-year-old woman with a point mutation at nucleotide 11778 in the mitochondrial DNA was examined during the acute phase of LHON, which is generally investigated only rarely(More)
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