Sökning: "Usher type II"

Hittade 2 avhandlingar innehållade orden Usher type II.

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

    Författare :Mehdi Sadeghi; Göteborgs universitet; []
    Nyckelord :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

  3. 2. Retinal function in deaf-blind syndromes

    Författare :Eva Malm; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; general anesthesia.; molecular genetics; hearing impairment; full-field electroretinography; Retinal degeneration;

    Sammanfattning : A variety of disorders can cause retinal degeneration and hearing impairment, and it is of great value to have an early diagnosis since there is a large variation in phenotype and prognosis both within and between the different disorders. The general aim of this thesis was to characterize the retinal function, to describe the phenotype, and – where appropriate – to relate the phenotype to genotype in patients with combined visual and hearing impairment. LÄS MER