Sökning: "Best macular dystrophy"

Hittade 5 avhandlingar innehållade orden Best macular dystrophy.

  1. 1. Analysis of the Gene and Protein Causing Best Macular Dystrophy

    Författare :Benjamin Bakall; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; VMD2; bestrophin; macular degenration; mutation analysis; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Best macular dystrophy (BMD) is an autosomal dominant inherited eye disease with a juvenile onset. Accumulation of the pigment lipofuscin in the retinal pigment epithelium can later cause macular degeneration and loss of vision. LÄS MER

  3. 2. Localization of five human genes by clinical and molecular genetic methods

    Författare :Mihailo Vujic; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

    Sammanfattning : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. LÄS MER

  4. 3. Electrophysiology, Optical Coherence Tomography and Molecular Genetic Analysis in Patients with Glaucoma and/or Best Vitelliform Macular Dystrophy as Part of Clinical Care

    Författare :Elisabeth Wittström; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glaucoma; BVMD; BEST1; full-field ERG; mfERG; OCT;

    Sammanfattning : Glaucoma is a common ophthalmic disease with multifactorial aetiology. There is growing evidence that glaucoma is a disease of the entire retina and not only the inner retina. LÄS MER

  5. 4. Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects

    Författare :Ruth Riise; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Laurence-Moon-Bardet-Biedl syndrome; Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal anomalies. Hypogenitalism. Variation. Overlapping. Genetic linkage mapping.; Alström syndrome; Ophtalmology; Oftalmologi;

    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

  7. 5. Electrophysiology and optical coherence tomography in acquired and hereditary retinal disorders

    Författare :Patrik Schatz; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Retinal degeneration; multifocal ERG; Oftalmologi; Ophtalmology; OCT;

    Sammanfattning : In this thesis, retinal function in general, as well as central retinal function and structure are described in selected forms of acquired and hereditary retinal disorders, in order to improve our understanding of underlying pathogenic mechanisms. This comparison has been made possible during the last years, through the relatively recent development of multifocal ERG (mfERG) and optical coherence tomography (OCT) for the analysis of central retinal function and structure, respectively. LÄS MER