Sökning: "Dominant optic atrophy"
Hittade 2 avhandlingar innehållade orden Dominant optic atrophy.
- Detta är en avhandling från Department of Ophthalmology, Lund University
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
- Detta är en avhandling från Stockholm : Karolinska Institutet, Department of Neuroscience
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