Search for dissertations about: "Retinitis pigmentosa"

Showing result 6 - 10 of 21 swedish dissertations containing the words Retinitis pigmentosa.

  2. 6. Bothnia dystrophy, a clinical, genetical and electrophysiological study

    Author : Marie Burstedt; Ola Sandgren; Ola Textorius; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ophtalmology; retinal pigment epithelium; retinitis pigmentosa; neural retina; electroretinogram; cellular retinaldehyde-binding protein; dark adaptometry; retinal degeneration; Oftalmiatrik; Ophtalmology; Oftalmologi; Ophtalmology; oftalmiatrik;

    Abstract : A high frequency of retinitis pigmentosa (RP) is found in Northern Sweden. In an inventory of autosomal recessive RP patients in Västerbotten County, a great number of cases with a unique phenotype was noticed, denoted Bothnia Dystrophy (BD). READ MORE

  4. 7. Usher syndrome. Prevalence and phenotype - genotype correlations

    Author : Mehdi Sadeghi; Göteborgs universitet; []
    Keywords : deafblindness; Usher syndrome; retinitis pigmentosa; prevalence; Usher type I; Usher type II; Usher type III; vestibular deficiency; hereditary hearing loss;

    Abstract : Aims: the main purpose of this thesis was to estimate the prevalence of Usher syndrome type I, II and III in Sweden (study I) and to determine the clinical differences between Usher syndrome subtypes (studies II-IV). The hypothesis to be tested was that different genes for Usher syndrome will produce different phenotypes even when they belong to the same clinical type (studies II and III). READ MORE

  5. 8. Genetic mapping of retinal degenerations in Northern Sweden

    Author : Linda Köhn; Irina Golovleva; Alison Hardcastle; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bothnia dystrophy; cone dustrophy; linkage analysis; mutation; PITPNM3; PRPF31; retinitis pigmentosa; RLBP1; Medical genetics; Medicinsk genetik; genetik; Genetics;

    Abstract : Inherited retinal degenerations are a group of disorders characterised by great genetic heterogeneity. Clinically, they can be divided into two large groups of diseases, those associated with night blindness, e.g. retinitis pigmentosa (RP), and those with macular malfunction, e. READ MORE

  6. 9. Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects

    Author : Ruth Riise; Lund Oftalmologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Laurence-Moon-Bardet-Biedl syndrome; Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal anomalies. Hypogenitalism. Variation. Overlapping. Genetic linkage mapping.; Alström syndrome; Ophtalmology; Oftalmologi;

    Abstract : The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. READ MORE

  7. 10. Selective wavelength pupillometry to evaluate outer and inner retinal photoreception

    Author : Aki Kawasaki; Fatima Pedrosa Domellöf; Bertil Lindblom; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; pupil; pupil light reflex; melanopsin; photoreceptor; intrinsically photosensitive retinal ganglion cell; oftalmiatrik; Ophtalmology;

    Abstract : PurposeIntrinsically photosensitive retinal ganglion cells (ipRGCs) express a unique photopigment called melanopsin. Capable of direct phototransduction, the ipRGCs are also influenced by rods and cones via synaptic inputs. READ MORE