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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 |
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| 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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