Sökning: "Vesna Ponjavic"

Hittade 2 avhandlingar innehållade orden Vesna Ponjavic.

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

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

    Författare :Vesna Ponjavic; Lunds universitet.; Lund University.; [1997]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; rhodopsin; peripherin.; 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

  2. 2. 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; Lunds universitet.; Lund University.; [2006]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Full-field ERG; multifocal 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