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Start arrow Autosomalne recesywne arrow Retinitis Pigmentosa

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Co to jest Retinitis Pigmentosa?

Retinitis Pigmentosa (często używany jest skrót RP), czyli zwyrodnienie barwnikowe siatkówki, jest chorobą dziedziczną, która w skrajnych przypadkach może prowadzić do utraty wzroku. Jest to jedna z klasycznych chorób na tle genetycznym.
Do tej pory rozpoznano, w miarę dokładnie, trzy typy dziedziczenia RP:

Dziedziczenie autosomalne recesywne:
uszkodzony gen przekazywany jest przez ojca i matkę. Obydwoje rodzice są tylko nosicielami uszkodzonego genu. Sami nie chorują, natomiast dziecko ma RP. Jest to najczęstsza forma zachorowań - ok. 84 procent.

Dziedziczenie autosomalne dominujące:
występuje w tym wypadku, gdy jedno z rodziców jest chore na RP i przekazuje uszkodzony gen dziecku, które także choruje. Ten typ dziedziczenia występuje w przypadku ok. 10 procent zachorowań.

Trzeci typ związany jest z chromosomem X.
Uszkodzony gen przekazywany jest przez matki, które będąc nosicielkami, same nie chorują. W tej grupie chorują tylko synowie. Córki, jeśli odziedziczą uszkodzony gen, przekazują go dalej. Ta grupa zachorowań na RP - to ok. 6 procent przypadków.
Oprócz wyżej wymienionych typów dziedziczenia, mogą występować jeszcze inne, dotąd nie rozpoznane. Niedawno odkryto nowy rodzaj dziedziczenia - tzw. wielogenowy. Prawdopodobieństwo zachorowania na RP w tym wypadku jest jednak znikome, ze względu na konieczność przekazania dziecku przez rodziców jednocześnie dwóch różnych uszkodzonych genów.
Ocenia się, że w około 40 procentach wszystkich zachorowań na Retinitis Pigmentosa, występuje ono w danej rodzinie po raz pierwszy. W Polsce ilość zachorowań szacuje się na ok. 10.000.

Przyczyna występowania RP

Aby lepiej zrozumieć skutki tej choroby, należy wpierw, choć w skrócie, wyjaśnić jak zbudowana jest siatkówka oka (retina). Składa się ona z pręcików i czopków. Te pierwsze odpowiadają za widzenie czarno-białe, czopki natomiast umożliwiają widzenie kolorów. Pręciki umiejscowione są głównie na obrzeżach siatkówki, czopki w jej centrum, najwięcej zaś w plamce żółtej, która jest punktem najlepszego, ostrego widzenia.

Komórki znajdujące się w siatkówce, rozmnażają się w specyficzny sposób, nie przez podział, lecz narastając, w charakterystyczny sposób, od dołu. Odrzucone zużyte części zostają wchłonięte przez specjalne komórki znajdujące się na dnie siatkówki. Tak dzieje się w wypadku zdrowej siatkówki. W Retinitis Pigmentosa odrzucone części komórki nie są rozpoznawane jako zużyte i zalegają na dnie siatkówki, w postaci skostniałych skupisk barwnika (pigmentu). To jest właśnie istotą choroby RP.

Przebieg choroby

Charakterystyczne jest to, że RP rozwija się u pacjentów w bardzo różny sposób, często trudny do przewidzenia. Stąd też wynikają trudności w jej diagnozowaniu, szczególnie we wczesnym stadium rozwoju. U jednych występuje centralna utrata widzenia (ten rodzaj można stosunkowo wcześnie zauważyć), u innych peryferyjna utrata pola widzenia. Ten drugi rodzaj jest często stosunkowo późno zauważany, na ogół gdy choroba jest już w stanie zaawansowanym. Może to być np. podczas prowadzenia samochodu, jazdy na rowerze itp.
Czas rozwoju choroby też jest bardzo zróżnicowany. Może przebiegać w sposób "skokowy", tj. po okresie stabilizacji, występuje nagłe przyspieszenie degeneracji, lub też może ona przebiegać bardzo powoli.
Bardzo często RP nie jest rozpoznawana podczas rutynowych badań okulistycznych. Liczne przykłady dowodzą, że pacjenci uznawani przez lekarzy za dobrze widzących (prawidłowa kontrola wzroku na tablicy, brak kłopotów z czytaniem), dopiero w drugiej lub trzeciej dekadzie życia dowiadują się o tym, że są chorzy na zwyrodnienie barwnikowe siatkówki. Codzienne "potknięcia", traktowane są jak niezręczność, nieuwagę itp. Oczywiście w wypadku gdy utrata wzroku następuje w centrum siatkówki, choroba jest wychwytywana w o wiele wcześniej, niż gdy to ma miejsce na jej peryferiach.
Trzeba z naciskiem zaznaczyć, że RP nie jest chorobą czysto okulistyczną. Okulista stwierdza jej skutki. Choroba ma podłoże typowo genetyczne i to geny są odpowiedzialne za jej rozwój.

Symptomy choroby

Tak jak już wcześniej zaznaczyłem, RP może przebiegać u różnych pacjentów w sposób bardzo odmienny. Często dopiero określone sytuacje dnia codziennego uwidaczniają, że ktoś ma kłopoty z widzeniem, w tym wypadku - z powodu RP. Jeden może bez żadnych kłopotów czytać, nie korzystając nawet z okularów, a mieć kłopoty z poruszaniem się po ruchliwej ulicy, w nowym nieznanym mu otoczeniu itp. Drugi z kolei nie jest w stanie odczytać nic, nawet przy pomocy bardzo silnej lupy powiększającej, a nie ma specjalnych kłopotów z poruszaniem się po mieście.
W Retinitis Pigmentosa wyróżnić można trzy główne cechy, które mogą występować samodzielnie, lub też we wzajemnych kombinacjach:

  • ślepota zmierzchowa
  • ograniczenie pola widzenia (centralnego lub peryferyjnego)
  • światłowstręt

Ślepota zmierzchowa
Na skutek degeneracji pręcików w siatkówce, odpowiedzialnych za widzenie czarno-białe, pacjenci zaczynają gorzej widzieć nocą, o zmierzchu. Jest to u większości jeden z pierwszych objawów choroby. Zjawisko ślepoty zmierzchowej jest w RP bardzo podstępne. W początkowym stadium choroby, widzenie w dzień jest w miarę prawidłowe, natomiast gdy zapada zmrok staje się bardzo słabe. Dla kogoś kto prowadzi samochód, jest to sytuacja wręcz katastrofalna. Spotyka się sytuacje, gdy kierowca udający się do okulisty, otrzymuje diagnozę: "Ma pan niedobór witaminy A". Uspokojony, łyka kapsułki... i wcześniej czy później ląduje na drzewie. W późniejszym okresie, proces ten ulega znacznemu pogorszeniu. Widzenie w zmroku jest prawie zerowe.

Ograniczenie pola widzenia
Jest to także zjawisko bardzo podstępne. Rozwija się u pacjentów w zróżnicowany sposób. Może najpierw występować na obrzeżach pola widzenia, w centrum siatkówki, lub też w określonych jej miejscach (w postaci mroczków). Najwcześniej rozpoznawalne jest ograniczenie widzenia w centrum siatkówki. Peryferyjna utrata widzenia jest bardziej podstępna i rozpoznawana często później, gdy jest już zaawansowane.

Wrażliwość na światło
Niektórzy pacjenci z RP cierpią na bardzo dużą nadwrażliwość na światło. Wywołuje ona silny ból oczu i właściwie są oni skazani na noszenie ciemnych okularów przeciwsłonecznych, nawet w szary, deszczowy dzień.

Metody leczenia RP

Prawda jest niestety okrutna i należy ją na wstępie silnie zaakcentować. Nie ma, na dzień dzisiejszy, żadnej skutecznej metody prowadzącej do wyleczenia Retinitis Pigmentosa. Lepiej to sobie uświadomić, aby nie narażać się na zbędne złudzenia, koszty na "cuda" metody medycyny naturalnej, orientalnej itp. (w niemieckiej stronie internetowej Pro Retina Deutschland są liczne ostrzeżenia przed "super metodami", takimi jak np. leczenie użądleniami pszczół!). Jednak spieszę już ze słowami otuchy i nadziei dla tych, których te słowa poraziły. Obecnie na świecie prowadzone są liczne badania naukowe, wśród których można wyróżnić trzy główne trendy:

  • terapia farmakologiczna
  • transplantacja siatkówki
  • terapia genowa

Szczególnie ta ostatnia, w tym dotycząca głownie zakresu genetyki molekularnej, może wkrótce doprowadzić do skutecznego leczenia i zapobiegania tej chorobie.
Wiele szczegółowych informacji w tym zakresie można uzyskać na oficjalnej stronie Polskiego Stowarzyszenia Retinitis Pigmentosa (PSRP), a także na innych stronach, których adresy zamieściłem w dziale Linki.

Jak żyć z RP?

To jest pytanie, które zadaje sobie każdy, kto usłyszy diagnozę: "jest pan/-ni chory/-ra na zwyrodnienie barwnikowe siatkówki". Nie da się ukryć, że diagnoza ta jest często życiowym wyrokiem. Utrata pracy, konieczność rezygnacji z prowadzenia samochodu, wykruszający się krąg - tak licznych dotąd - znajomych, brak zrozumienia czasem w najbliższym otoczeniu rodzinnym, brak środków do życia (przynajmniej takiego, na do jakiego byliśmy dotąd przyzwyczajeni) - to wszystko wali się jak domek z kart. Liczne załamania, depresje nie są obce tym, których dotknęła ta genetyczna przypadłość, "ofiarowana w spadku" od naszych krewnych.

Jak dalej z tym żyć, co robić? Przede wszystkim uświadom sobie, że nie jesteś sam. To ważne. Wielu pacjentów mówi o poczuciu osamotnienia i wyizolowania w swojej chorobie, po otrzymaniu diagnozy. Wydaje się im, że to tylko oni są dotknięci tą chorobą. Wokół - w rodzinie, w środowisku w którym się obracają - nikt (na ogół) nie potyka się tak często o przedmioty, nie ma problemów ze spacerem wieczorną porą, nie przewraca szklanek z herbatą itp.
Na świecie jest około pół miliona osób takich jak ty. Bardzo wielu z nich zorganizowanych jest w stowarzyszenia (obecnie liczba narodowych organizacji pacjentów z RP liczy 36). Są to na ogół prężne gremia, które bardzo intensywnie pracują na rzecz wzajemnej pomocy, zbierają informacje o aktualnym stanie badań nad znalezieniem skutecznej terapii, spotykają się, aby po prostu porozmawiać, wymienić poglądy, nawiązać znajomości, a może i nowe przyjaźnie.
W Polsce działa od kilku lat Polskie Stowarzyszenie RP. Organizuje co roku spotkania, wydaje Biuletyn, prowadzi własną oficjalną witrynę internetową, pod adresem http://psrp.idn.org.pl/

Być może powiesz teraz - no tak, jeszcze jedna organizacja, składki członkowskie, prezydium, zarządy. Po co mi to? Odpowiem krótko - abyś nie był sam! Jeszcze do połowy lat siedemdziesiątych ludzie z RP żyli samotnie ze swoją chorobą. W tym właśnie czasie, Finowie jako pierwsi, rozpoczęli proces organizowania się w stowarzyszenia. Teraz na całym świecie takich organizacji jest kilkadziesiąt. Działają intensywnie na rzecz walki nie tylko z samą chorobą, ale też o godne i w pełni wartościowe życie ludzi dotkniętych RP.


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