Search for dissertations about: "Stargardt disease"

Found 5 swedish dissertations containing the words Stargardt disease.

2. 1. Models of Retinal Development and Disease

   Author : Minas Hellsand; Finn Hallböök; Emma Andersson; Department of Cell and Molecular Biology Karolinska Institutet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Developmental neurobiology; retinal organoids; retinoblastoma; MYCN; Stargardt disease; Bardet-Biedl syndrome; model systems;

   Abstract : For a model of a human disease to be valid and useful, it is important that key genotypic and phenotypic traits are shared between model system and human. The work in this thesis has been focused on generating new and characterizing spontaneous models of three genetic disorders affecting the retina: retinoblastoma, a childhood cancer with its origin in the fetal retina, Stargardt disease, a juvenile form of macular degeneration, and Bardet-Biedl syndrome, a pleiotropic ciliopathy featuring retinal degeneration. READ MORE

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

   Author : Louise Eksandh; Lund Oftalmologi; []
   Keywords : 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;

   Abstract : 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. READ MORE

5. 3. Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies

   Author : Ida Maria Westin; Irina Golovleva; Berit Byström; Marie Burstedt; Ola Sandgren; Sudha Iyengar; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Epigenetics; Splicing; Methylation; Ophtalmology; FECD; Stargardt; Retinitis pigmentosa; ABCA4; EYS; TCF4; F5; THBD; Coagulation factor V; Thrombomodulin; medicinsk genetik; Medical Genetics;

   Abstract : Inherited eye disorders (IED) are groups of genetically and clinically heterogenous conditions affecting different tissues in the eye. IED are most often progressive with reduced vision or legal blindness as outcome. READ MORE

6. 4. Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

   Author : Jonsson Frida; Irina Golovleva; Carlo Rivolta; Umeå universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Cornea; retina; gene; mutation detection; inherited diseases; genetik; Genetics;

   Abstract : Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heterogeneity. Over 250 genes are associated with retinal diseases and 16 genes are causative of corneal dystrophies. READ MORE

7. 5. Canine inherited retinal degenerations: a model for visual impairment in humans

   Author : Suvi Mäkeläinen; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

   Abstract : Inherited retinal degenerations (IRDs) form a clinically and genetically heterogeneous group of diseases, leading to visual impairment or blindness in both humans and dogs. The prevalence of IRDs is estimated at 1 in 2,000 in humans. READ MORE