Sökning: "Dominant optic atrophy"

Hittade 2 avhandlingar innehållade orden Dominant optic atrophy.

1. 1. 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

3. 2. Studies on hereditary spastic paraplegia proteins

   Författare :Cynthia Soderblom; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The hereditary spastic paraplegias (HSPs) are a clinically and genetically diverse group of inherited neurological disorders that primarily cause progressive spasticity and weakness in the lower limbs due to a length-dependent, retrograde degradation of the corticospinal motor neurons. Purely spastic paraplegia is also known as uncomplicated HSP, but complicated forms of HSP exist as well, with symptoms such as mental retardation, dementia, seizures, and optic, cortical, and cerebellar atrophy. LÄS MER