Sökning: "Juvenile X-linked retinoschisis"

Hittade 2 avhandlingar innehållade orden Juvenile X-linked retinoschisis.

  1. 1. X-LINKED RETINOSCHISIS ELECTROPHYSIOLOGY, MOLECULAR GENETICS AND TREATMENT

    Författare :Sten Kjellström; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mouse model; retinal degeneration; X-linked retinoschisis; XLRS; gene therapy; electroretinography;

    Sammanfattning : X-linked retinoschisis (XLRS) is a congenital progressive inherited retinal disease that affects the entire retina and is one of the more common causes of vision loss from retinal degeneration affecting young men,. The progression is variable but seems to be relatively stationary in the ages 6 to 25 years. LÄS MER

  3. 2. Clinical expressions of juvenile hereditary retinal degenerations and macular dystrophies: Electrophysiological and genetic studies

    Författare :Louise Eksandh; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Oftalmologi; Ophtalmology; Rod-monochromacy; Stargardt disease; Juvenile X-linked retinoschisis; Spielmeyer-Vogt disease; Best disease; multifocal-ERG; EOG; full-field ERG; Phenotype; genotype;

    Sammanfattning : Hereditary retinal degenerations are the most frequent reason for severe visual handicap among young people in Scandinavia today. In the six papers included in this thesis the phenotypic expressions, with emphasis on the electrophysiological findings, of five different juvenile hereditary retinal degenerations are described. LÄS MER