Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Gaugl, B.
Usher syndrome (Retinitis pigmentosa and congenital cochlear inner ear damage) Bio-psycho-social effects of double sense impairment
[ Diplomarbeit ] Medical University of Graz; 2013. pp. 66
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Rabensteiner Dieter Franz
- Schmut Otto
- Altmetrics:
- Abstract:
- Usher syndrome is a disability, which is inherited as an autosomal recessive trait. This disease is characterized by sensorineural hearing loss or deafness from birth and a gradual loss of vision caused by retinitis pigmentosa. The death of photoreceptors usually takes place from the periphery toward the macula. Typical of retinitis pigmentosa, people suffer from night blindness and then the gradual loss of vision and "tunnel vision" leading to blindness at a later stage ¿ depending on Usher type. The hearing impairment in Usher syndrome is mainly due to damage to the hair cells in the cochlea of the inner ear. It is usually from birth as deafness or moderate to severe hearing loss. There is no typical picture of the disease. That is why there is a clinical classification in subtypes. The age when the first symptoms of retinitis pigmentosa are recognized is highly variable. The course and progression of the disease are intra-and inter-family different. The progression of visual loss can only be estimated based on regular clinical examinations in two-to five-year intervals. How to cope with the visual handicap, physically as well as psychologically, is individually different. The exemplary case of Usher syndrome does not exist. The primary aim of the thesis is to publicize this rare and relatively unknown disease. Moreover the bio ¿ psychosocial problems of people suffering from the Usher syndrome are demonstrated. The thesis shows the difficulties and limits which these people have to confront in everyday life, communication and society. And it shows what it means to accept this disability and to cope with it.