Search for dissertations about: "rhodopsin peripherin. cone-rod dystrophy retinitis pigmentosa choroideremia central areolar choroidal dystrophy mutation screening full-field electroretinography Phenotype genotype Ophtalmology Oftalmologi"

Found 1 swedish dissertation containing the words rhodopsin peripherin. cone-rod dystrophy retinitis pigmentosa choroideremia central areolar choroidal dystrophy mutation screening full-field electroretinography Phenotype genotype Ophtalmology Oftalmologi.

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

    Author : Vesna Ponjavic; Lund Oftalmologi; []
    Keywords : 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;

    Abstract : 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. READ MORE