Sökning: "retinitis pigmentosa"
Visar resultat 6 - 10 av 21 avhandlingar innehållade orden retinitis pigmentosa.
6. Bothnia dystrophy, a clinical, genetical and electrophysiological study
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
7. Usher syndrome. Prevalence and phenotype - genotype correlations
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
8. Genetic mapping of retinal degenerations in Northern Sweden
Sammanfattning : Inherited retinal degenerations are a group of disorders characterised by great genetic heterogeneity. Clinically, they can be divided into two large groups of diseases, those associated with night blindness, e.g. retinitis pigmentosa (RP), and those with macular malfunction, e. LÄS MER
9. Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects
Sammanfattning : The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. LÄS MER
10. Selective wavelength pupillometry to evaluate outer and inner retinal photoreception
Sammanfattning : PurposeIntrinsically photosensitive retinal ganglion cells (ipRGCs) express a unique photopigment called melanopsin. Capable of direct phototransduction, the ipRGCs are also influenced by rods and cones via synaptic inputs. LÄS MER