NR 4-6/2007

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Zwyrodnienie barwnikowe siatkówki – przebieg kliniczny, diagnostyka i możliwości leczenia

Retinal pigmentary degeneration – clinical features, diagnostics and possibilities of treatment

Magdalena Grześk, Grażyna Malukiewicz-Wiśniewska

Z Katedry i Kliniki Chorób Oczu Collegium Medicum w Bydgoszczy, Uniwersytet Mikołaja Kopernika w Toruniu
Kierownik: prof. dr hab. n. med. Józef Kałużny

Summary: TThe purpose of this study was to evaluate clinical course of retinitis pigmentosa taking into consideration models of inheritance and possible treatment.
Retinitis pigmentosa belongs to heterogeneous group of hereditary disorders, which are connected with gradual loss of the photoreceptor function, firstly rod cells subsequently cones, which is accompanied by the retinal pigmentary epithelium disorder.
Retinitis pigmentosa connected with X chromosome is one of the most severe form of this disease that in polish population takes place with frequency at average 10-15% which is similar to ADRP – 10-20% .
Course of RP, despite many similarities may differ from each other and prognosis depends on model of inheritance. Unfortunately, in spite of many efforts, nowadays medicine do not have successful treatment for patients with RP.
Słowa kluczowe:  zwyrodnienie barwnikowe, retinitis pigmentosa (RP), autosomalnie dominujące RP (ADRP, autosomalnie recesywne) RP (ARRP), X-zależne RP (XLRP), sporadyczne RP (sRP), terapia genowa, apoptoza.
Key words: Pigmentary degenerations, retinitis pigmentosa, autosomal dominant RP (ADRP), autosomal recessive RP (ARRP), X-linked RP(XLRP), simplex RP (sRP), gene therapy, apoptosis



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