Sökning: "Retinitis pigmentosa"

Visar resultat 1 - 5 av 21 avhandlingar innehållade orden Retinitis pigmentosa.

1. 1. The potential role of retinal cGMP-interaction partners within the degeneration mechanism causing Retinitis Pigmentosa

   Författare :Michel Rasmussen; Lund Oftalmologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Retinitis Pigmentosa; Photoreceptors; cGMP; cGMP-interactors; retinal degeneration; neuroprotection;

   Sammanfattning : The eye disease Retinitis Pigmentosa (RP) represents a heterogeneous group of inherited retinal dystrophies, and it has been estimated that 1 in 3000 to 7000 people worldwide has the disease. The symptoms of RP are photoreceptor degeneration that leads to night blindness, followed by a decline in peripheral and central vision, and potential blindness. LÄS MER

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

   Författare :Vesna Ponjavic; Lund Oftalmologi; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

4. 3. Intracellular mechanisms in rd1 mouse retinal degeneration

   Författare :Leif Johnson; Lund Oftalmologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ophtalmology; Neuroprotection; Photoreceptor; Retinitis Pigmentosa; Oftalmologi;

   Sammanfattning : Retinitis pigmentosa (RP) is an inherited disorder and the leading cause of visual impairment in the working age population. It is caused by a number of different genetic mutations, all of which cause the rod photoreceptors to degenerate. As the rods become few in numbers, the cones will also begin to die, resulting in total blindness. LÄS MER

5. 4. Evaluation of the visual pathway with ERG, mfERG and mfVEP in inherited eye disorders

   Författare :Lotta Gränse; Lund Oftalmologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; multifocal ERG; Full-field ERG; multifocal VEP; Bothnia Dystrophy; Retinitis pigmentosa; Dominant optic atrophy; Leber`s hereditary optic neuropathy; Oftalmologi; Ophtalmology;

   Sammanfattning : This thesis will describe the clinical phenotypes, with emphasis on electrophysiology, in patients with different hereditary eye diseases and to further evaluate and modify the mfVEP technique for clinical use. Bothnia Dystrophy is a tapetoretinal disorder with a mutation in the RLBP1 gene. LÄS MER

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

   Författare :Ida Maria Westin; Irina Golovleva; Berit Byström; Marie Burstedt; Ola Sandgren; Sudha Iyengar; Umeå universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER