Search for dissertations about: "Bothnia dystrophy"

Found 4 swedish dissertations containing the words Bothnia dystrophy.

  2. 1. 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. 2. Evaluation of the visual pathway with ERG, mfERG and mfVEP in inherited eye disorders

    Author : Lotta Gränse; Lund Oftalmologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; multifocal ERG; Full-field ERG; multifocal VEP; Bothnia Dystrophy; Retinitis pigmentosa; Dominant optic atrophy; Leber`s hereditary optic neuropathy; Oftalmologi; Ophtalmology;

    Abstract : This thesis will describe the clinical phenotypes, with emphasis on electrophysiology, in patients with different hereditary eye diseases and to further evaluate and modify the mfVEP technique for clinical use. Bothnia Dystrophy is a tapetoretinal disorder with a mutation in the RLBP1 gene. READ MORE

  5. 3. 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. 4. Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

    Author : Jonsson Frida; Irina Golovleva; Carlo Rivolta; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Cornea; retina; gene; mutation detection; inherited diseases; genetik; Genetics;

    Abstract : Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heterogeneity. Over 250 genes are associated with retinal diseases and 16 genes are causative of corneal dystrophies. READ MORE