Sökning: "Retinitis pigmentosa"

Visar resultat 1 - 5 av 18 avhandlingar innehållade orden Retinitis pigmentosa.

  1. 1. Intracellular mechanisms in rd1 mouse retinal degeneration

    Detta är en avhandling från Faculty of Medicine, Lund University

    Författare :Leif Johnson; [2007]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ophtalmology; Neuroprotection; Photoreceptor; Retinitis Pigmentosa; Oftalmologi;

    Sammanfattning : Retinitis pigmentosa (RP) is an inherited disorder and the leading cause of visual impairment in the working age population. It is caused by a number of different genetic mutations, all of which cause the rod photoreceptors to degenerate. As the rods become few in numbers, the cones will also begin to die, resulting in total blindness. LÄS MER

  2. 2. Phenotypes and genotypes in families with hereditary tapetoretinal degenerations

    Detta är en avhandling från Ophthalmology (Lund), Lund University

    Författare :Vesna Ponjavic; [1997]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; peripherin.; rhodopsin; cone-rod dystrophy; retinitis pigmentosa; choroideremia; central areolar choroidal dystrophy; mutation screening; full-field electroretinography; Phenotype; genotype; Ophtalmology; Oftalmologi;

    Sammanfattning : The purpose of the study was to characterise the phenotype with emphasis on electroretinography in four different types of hereditary retinal degeneration and to correlate it to a genotype when possible. Two methods were used: full-field electroretinography for objective assessment of retinal function and mutation screening of blood samples for detection of gene alterations. LÄS MER

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

    Detta är en avhandling från Department of Ophthalmology, Lund University

    Författare :Lotta Gränse; [2006]
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

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

    Detta är en avhandling från Department of Ophthalmology, Lund University

    Författare :Mehdi Sadeghi; Göteborgs universitet.; Gothenburg University.; [2005]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; deafblindness; Usher syndrome; retinitis pigmentosa; prevalence; Usher type I; Usher type II; Usher type III; vestibular deficiency; hereditary hearing loss;

    Sammanfattning : 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). LÄS MER

  5. 5. Bothnia dystrophy, a clinical, genetical and electrophysiological study

    Detta är en avhandling från Umeå : Umeå university

    Författare :Marie Burstedt; Ola Sandgren; Ola Textorius; [2003]
    Nyckelord :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; MEDICINE Physiology and pharmacology Ophtalmology; MEDICIN Fysiologi och farmakologi Oftalmologi; Ophtalmology; oftalmiatrik;

    Sammanfattning : 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). LÄS MER