Stargardt sika isifo: incazelo, izimbangela, izimpawu kanye nezici ukwelashwa

isifo Stargardt sika kuyinqubo esiwohlozayo kuphakamisa ku macula. Kukhona izifo eziningi umtholampilo okuyinto efana lo zokugula. Basuke okubangwa kuguquka zezakhi zofuzo ezahlukene. Ngakho-ke, lesi sifo kungokwalabo esigabeni ka pathologies sitholwa njengefa.

The main ukubonakaliswa emitholampilo ye isifo kuyinqubo esiwohlozayo ku macula nemaphakathi retinitis sombala okubangela Iconsi ekuthuthukiseni a scotoma emaphakathi.

Izici lesi sifo

isifo Stargardt kuba pathologies ezingavamile kodwa ezinzima kakhulu. It kubonakala esemncane - ezineminyaka engu-6 kuya ku-20 nge imvamisa 1: 20,000. Ngamanye isigaba seminyaka yobudala zokugula, njengoba umthetho, hhayi vstrechvaetsya. Imiphumela izifo inhlekelele. Hhayi wawususa ukulahlekelwa okuphelele umbono.

Lesi sifo linesisekelo zofuzo. inqubo Dystrophic kuthinta ngwengwzi esifundeni macular futhi zivela e-epithelium sombala, okuholela ekulahlekeni emehlweni. Inqubo zamazwe amabili.

ifomu sokugembula

Kukhona ocacile zokugula zibe izinhlobo ezine kuya endaweni kwasendaweni ukuvuvukala:

inqubo esiwohlozayo kungabonakala nasemkhakheni:

• phakathi zone neuropathy;
• esifundeni macular;
• ezonini paracentral.

Futhi, kukhona uhlobo okuxubile lesi sifo esibandakanya ukuvuvukala zendawo ngumgogodla ezikhungweni zomsebenzi iso futhi azungeze.

Izindlela zika ukuthuthukiswa isifo

Izimbangela zesifo bachazwa udokotela Karl Stargardt engxenyeni yokuqala yekhulu lamashumi amabili. Ukuze kuhlonishwe yakhe futhi okuthiwa sifo. I zokugula ihlobene esifundeni macular futhi, ngokuvumelana usosayensi, idluliswe ngaphakathi amalungu omkhaya ngefa. Ngokuvamile esiqokiwe polymorphic isithombe ophthalmoscopic, okuyinto iqanjwe 'yoma of the choroid, "" iso lenkomo ", " ithusi ile ", nabanye.

Ngokusebenzisa positional cloning master isakhi sofuzo Locus kwahlonzwa ukuthi kubangela retinitis pigmentosa, kusobala kakhulu nama-photoreceptors. Ngo isayensi ibizwa ngokuthi ABCR.

isifo Eye ezuzwa i autosomal ngendlela evelele. Ukuze pathologies libhekene kwasendaweni zezakhi zofuzo soguquko lwegciwane singalawuleka e-chromosomes 13q futhi 6ql4.

Ngesisekelo zofuzo awusekelwe ubulili. Ngokocwaningo lwamuva ka zofuzo doctor-, nohlobo evelele ukudluliswa kwalesi sifo, kuthatha kulula kancane, futhi akusho ngaso sonke isikhathi kuholele ngobumpumputhe. Iningi iseli receptor ziyaqhubeka nokusebenza ngendlela egculisayo. Kulezi iziguli, lo zokugula kwenzeka nge izimpawu omncane. Athintekayo uyaqhubeka esebenza kanye nokwenzeka izimoto ukushayela.

isifo Stargardt kanjani? Izimbangela ukonakala macular amaseli amanga ngokuntula amandla. Gene isici kuphakamisa ukukhiqizwa iprotheni engaphelele okuyinto idlulisela ATP molecule ngokusebenzisa cell ulwelwesi macular ngumgogodla ezikhungweni zomsebenzi kuyi-retina. It sigxile ihluzo isithombe nombala.

symptomatology zokugula

Yiziphi izici nabantu isifo Stargardt sika? Nge ukuthuthukiswa kwe-pathology sifo hhayi ebonwe ezinye izitho zangaphakathi. Inqubo kuthinta kuphela emehlweni. Lesi sifo iqala ukulahlekelwa acuity ezibukwayo. izimpawu kwesikhathi zikhulisa, futhi kukhona ephule ngokuphelele umbono umbala wonke umbono beqonda senhlobo Spectral.

izinguquko esiwohlozayo we fundus ziboniswe izibalo ezilandelayo:

• kuzo zombili amehlo imakwe esikhunjeni ichashaza isiyingi ukuma;
• kukhona izindawo zendawo elingenalo sombala;
• waphawula inqubo atrophic ku ngwengwzi sombala epithelium.

izinqubo ezinjalo kungenzeka ngokuhlanganyela okuvela kuyo izindawo olumhlophe-yellow. Njengoba isifo siqhubeka ku ngwengwzi sombala epithelium wembula ekuqongeleleni okhushuliwe lomcebo lipofuscin-like.

Zonke iziguli abangenwa yilo zokugula, itholiwe ngokuphelele noma ngokwengxenye scotoma emaphakathi, lapho namanani ahlukene, ngenxa yokudlanga kokuxhashazwa inqubo.

Lapho ibhokisi zheltopyatnistoy okwenyanga yesiguli womuntu ongahlala ngayo uhla evamile, kodwa umbono emaphakathi abahlukene encishisiwe.

Iningi amacala abantu abaye zabhekana inhlolovo, yaphawula kokunikezwa kwe-bezibona imibala deuteranopia uhlobo, diskhromazii bomvu-luhlaza. Lapho zheltopyatnistom dystrophic inqubo imibala kungaba kungathintekanga ngokuphelele.

Sokuwohloka Stargardt asitholayo ushintsho ngekwendzawo imvamisa Ngokuphambene ukuzwela (luyaqhubeka izigaba 6 - 10 º nge ukunciphisa okuphawulekayo endaweni phakathi amaza lubandlululo kanye engekho ephelele okusezingeni eliphezulu imvamisa esifundeni). Lesi yisifo okuthiwa "isiboniso Isigaxa sokuwohloka. '

Izimpawu zihlanganisa ukubona mihlobiso izinto, izindawo ezingabonakali ezibukweni, kwemiphetho, umbala kanye ukwephulwa okuzivumelanisa nobunzima ebukhoneni ukukhanya dim.

uphethwe isifo

Ngenxa yalokho zocwaningo ezakhini zofuzo ezembulwa bokuthi lesi sifo iso Stargardt kunqunywa iziyaluyalu allelic Locus ABCR.

Ukuxilongwa sifo iqala ukutadisha isimo fundus. Okwenziwe angiography fluorescein ka semithambo ngwengwzi neluhlolo electrophysiological. Kulokhu, ekutholweni izinga lomonakalo liyadingeka. Lokhu kwenza kube lula ukubona ukuthi inombolo izinkomba isifo, kuhlanganise emaphaketheni giperflyuorestsiruyuschie futhi fluorescence we emsipheni optic.

Njengoba lesi sifo imvelo ngofuzo, indlela enembile kakhulu ekutholeni lo uphethwe kungaba ngesikhathi DNA, okungaba uyakwazi ukuhlonza izifo lezinceku monomonogennye.

ukuxilongwa umehluko

isifo Stargardt nangokwenkolo kumele kube ukwehlukana Isigaxa-induku nge, ka Isigaxa, futhi Wand-ka Isigaxa sokuwohloka, lesichubekako foveal sokuwohloka, evelele, Juvenile Retinoschisis, macular sokuwohloka vitelliformnoy.

Futhi, umehluko ukuxilongwa kuboniswa khulelwa toxemia atholwe ngenxa Isikali ukonakala (ngokukhethekile, lapho hlorokvinovoy retinopathy).

Angelashwa isifo Stargardt sika?

ukwelashwa Etiologic alikho. It iqeda isifo Stargardt sika? asizayo uhlamvu Ukwelashwa kuhilela umjovo ukusetshenziswa parabulbar ka taurine kanye Antioxidants isingeniso kusho ezitsheni edlulisela (pentoxifylline, nicotinic acid), kanye steroid.

amavithamini kungelashwa ekhuthaza isitsha odongeni futhi sithuthukise kwegazi. amavithamini evame ukusetshenziswa B, A, C, E.

Lolo thando ungalubonisa ubambe Physiotherapy. Phakathi kwabo kufanele ukugqamisa electrophoresis izidakamizwa, futhi ezishukumisayo ngwengwzi ngemisebe.

Osetshenziswayo revasulyarizatsiya-retina ngo-ukufakelwa nge endaweni macular kwemisipha zesivikelo sesifuba.

Ngaphambili bamehlo emhlabeni wonke wayekholelwa ukuthi lesi sifo asilapheki. I zokwelapha ngenhla ukusiza kancane kuphela alibale ukuqhubeka kwesifo, kodwa abalokothi amvimbe.

Njengomthetho, ukuphathwa Akumsindisanga abantu kusukela ukulahlekelwa okuphelele umbono. Kuyadingeka ukuthuthukisa indlela ukuthi kwakuyoba lula ukubuyiselwa obonakele izakhiwo ocular.

Le nqubo ezintsha yokwelapha

Ingabe kukhona okwamanje indlela ephumelelayo ukuze kususwe zokugula ezifana nesifo Stargardt sika? Indlela esiphatha ngayo ukugula okungathí sina? Indlela iye ehlongozwayo 2009 nguDkt Aleksandrom Dmitrievichem Romaschenko, oyinhloko ye-Ophthalmology Centre "ON Umtholampilo" (Saint-Petersburg, ul. Marata, indlu 69, ukwakha B). Babeye ngcono ukuphathwa isifo inketho esekelwe yeselula ukwelashwa izicubu.

Ngesisekelo ukwelashwa ukusetshenziswa stem cells we adipose izicubu umuntu onesifo. Indlela zokwelapha yasungulwa ososayensi ngaphambilini VP Filatov. Ngenxa ubuchwepheshe ezintsha iziguli anikwa ithuba lokubuyisa umbono elahlekile futhi ihlinzeka ukuphila ngokugcwele.

UDkt AD yabhaliswa Romashchenko kobuchwepheshe obuyinkimbinkimbi bezokwelapha kanye nelungelo lobunikazi izindlela ezilandelayo ukwelashwa lwama-stem cell :

• indlela kuhlanganiswe yokususa ifomu ezimanzi lesi sifo;
• indlela eziyinkimbinkimbi paitogeneticheskogo yokwelapha isikhungo kanye tapetoretinalnoy sokuwohloka.

Ngesinye umtholampilo kuyinto ekwelapheni?

Ukwelapha izifo eziyinkimbinkimbi bekulokhu isikhungo ophthalmologic "Ngo Umtholampilo". Inombolo yomhlaba wonke yesikhungo itholakala edolobheni efana Petersburg. Ukwelapha isifo Stargardt sika kungaba kulesi sikhungo, ngoba nguye kuphela eRussia, lapho ubuchwepheshe ezinjalo sisetshenziswa.

Ingabe Ukwelapha lwama-stem cell iphephile?

Professionals singathembela uqinisekise ukuthi imishanguzo nobuchwepheshe athuthukiswe AD Romashchenko, nakanjani ephephile. Ukuze ekwelapheni amaseli lesiguli zisetshenziswa, okwenza kungabi kungenzeka ukungamukeleki noma ezinye imiphumela engemihle.

isiphetho

Shtargradta isifo aseqala esemncane futhi ngokushesha ekubeni ukulahlekelwa eliphelele umbono. Ezimweni ezingavamile kakhulu, ifa uhlobo evelele, ngeso lehla kancane. Iziguli belulekwa ukuba uvakashele kudokotela wezifo zamehlo, amavithamini kanye obugqoke izibuko. Indlela ephumelela kunazo ukuqeda zokugula kubhekwe ukwelashwa nge-stem cell.