Stargardt kaThixo izifo: inkcazelo, ebangela, iimpawu kunye neempawu unyango

isifo Stargardt kaThixo yinkqubo mandundu Uxhokonxwa kwi macula. Kukho izifo ezininzi yeklinikhi iyafana nale ngezifo. Bona zibangelwa kuguquka zofuzo ezahlukeneyo. Ngoko ke, esi sifo bobabo kudidi ezimbi zamafa.

Nokubonakaliswa engundoqo kwezonyango sifo yinkqubo mandundu kwi macula kunye central retinitis ebala ebangela nethontsi eli kuphuhliso scotoma engundoqo.

Iimpawu zesi sifo

isifo Stargardt kukuba i ezimbi enqabileyo kodwa nzima kakhulu. Oku kubonakala eselula - kwiminyaka emi-6 ukuya ku-20 kunye kumaza ka-1: 20,000. Kwezinye izigaba ubudala ngezifo, njengoko umthetho, hayi vstrechvaetsya. Imiphumo izifo enkulu. Asikabi ilahleko ngokupheleleyo umbono.

Isifo inezizathu yemfuza. inkqubo Dystrophic kuchaphazela kummandla semehlo macular kwaye asuka kwi epithelium sakhi, nto leyo ekhokelela ukuba ukulahlekelwa kukubona. Le nkqubo abambiseneyo.

ifomu yezifo

Kukho ukwahlukana okucacileyo ngezifo ngeentlobo ezine ngokuxhomekeke kwindawo ye-eyendawo arhabaxa:

inkqubo sisiba mandundu singabonakala:

• phakathi kommandla peripheral;
• kule ndawo macular;
• kwindawo paracentral.

Kwakhona, kukho uhlobo olungumxube sifo ebandakanya ukudumba eyendayo umbindi iliso kunye kwimida ethile.

Zikhona iindlela zophuhliso izifo

Ubangelwa sifo zichazwe igqirha uKarl Stargardt kwisiqingatha sokuqala kule nkulungwane yamashumi amabini. Imbeko lakhe igama esi sifo. Le ngezifo ihlobene kummandla macular yaye, ngokutsho sisazinzulu, udluliselwa phakathi nelifa lakowazo. Ngokuqhelekileyo elijongene umfanekiso polymorphic ophthalmoscopic, leyo ibizwa ngegama lika "yoma of the choroid," "iliso yenkomo", "ubhedu eyaphukileyo", kunye nabanye.

Ngenxa ngokokuma ngezakhi master gene kuwela Wayeqondakalaliswe ebangela retinitis pigmentosa, kubonakala kakhulu iiphotoreceptor. Zesayensi ibizwa ngokuba ABCR.

isifo Eye into njengelifa ngendlela lubalaseleyo autosomal. Kuba ezimbi luphawulwa eyendawo zofuzo mutated kwi zofuzo 13q no 6ql4.

Yentsusa yemfuza ayisekelwanga kwisini. Ngokutsho izifundo zakutshanje sezakhi doctor-, nohlobo lubalaseleyo ukudluliselwa esi sifo, kuthatha kancinci lula, kwaye ayisoloko kukhokelela kubumfama. Uninzi ezenza iseli kuqhubeka ukusebenza. Kwezi izigulane, lo ngezifo kwenzeka iimpawu engephi. NabaChatshazelwa ogcina ukusebenza kunye amathuba kwezithuthi zokuqhuba.

Njani na isifo Stargardt kaThixo? Izinto ezibangela yamehlo macular iiseli ilala kukuswela amandla. Gene isiphene kudale ukuveliswa iproteni esinesiphene sithumele ATP iimolekyuli ngokusebenzisa iseli inwebu macular engundoqo inxalenye retina. Sijolise yemizobo umfanekiso kunye nombala.

symptomatology zokugula

Ziintoni iimpawu kubantu abanesifo Stargardt kaThixo? Ngenxa uphuhliso ngezifo sifo anayenza kwamanye amalungu zangaphakathi. Le nkqubo ichaphazela kuphela emehlweni. Isifo siqala kwilahleko acuity olubonakalayo. Iimpawu Kamva ziyanda, kwaye kukho ephule yoluvo imibala lonke phezu imbono waqonda kwebanga ecacicleyo.

utshintsho sisiba mandundu le fundus aboniswe kumanani zilandelayo:

• emehlweni omabini iphawulwe ulwehlo imilo setyhula dot;
• kukho iindawo zasekuhlaleni akanalo mbala;
• inkqubo atrophic waphawula kwi epithelium semehlo.

iinkqubo ezinjalo kungenzeka kunye kukuvela amabala ezimhlophe-yellow. Njengoko esi sifo kwi epithelium semehlo kutyhilwa olwenzeka nangakumbi iziyobisi lipofuscin-like.

Zonke izigulane abachatshazelwa le ngezifo, ibhaqhe ongowona okanye inxenye scotoma engundoqo, okuye amaxabiso ezahlukeneyo, ngenxa ukuxhaphaka inkqubo.

Xa ibhokisi zheltopyatnistoy esonka isigulana babantu kuhlala kuluhlu eqhelekileyo, kodwa umbono engundoqo abahlukene lifinyele.

Uninzi amatyala abantu abanikwe le saveyi, kwakubhalwa ukugxojwa entsa imibala deuteranopia uhlobo, diskhromazii bomvu-luhlaza. Xa inkqubo zheltopyatnistom dystrophic umbono umbala kunokuba alichaphazeleki ngokupheleleyo.

Muscular Stargardt ivavanywa utshintsho lwendawo uvakalelo frequency umahluko (kwinkqubo izigaba 6 - 10 º kunye ekunciphiseni ebalulekileyo kummandla ezitsho zendawo oluphakathi kunye engekho ngokupheleleyo kummandla aqhelekileyo). Esi sifo ubizwa ngokuba "isiboniso cone muscular."

Iimpawu zihlanganisa umbono siziinduli yezinto, amatshatshazi uyimfama, blurriness, umbala kunye nokuhlukunyezwa lohlengahlengiso ubunzima phambi nasekuzeni.

uphethwe sisifo

Ngenxa yophando kwinqanaba kwezakhi kutyhilwa ubungqina bokuba isifo iliso Stargardt wayezimisele ukuphazamiseka allelic Locus ABCR.

Lokufunyaniswa kwesifo luqala ukufunda imeko fundus. Wenza angiography fluorescein yegazi semehlo kunye noviwo electrophysiological. Kulo mzekelo, ukuqingqwa iqondo umonakalo efunekayo. Oku kwenza kube lula ukubona inani iziphawuli sifo, kuquka nepokotho giperflyuorestsiruyuschie kunye fluorescence ye-luvo optic.

Ekubeni sifo uhlobo ilifa, le ndlela ichanekileyo yokufumanisa ukuba esi sifo iya kuba kwi-DNA, ezinako ukuchonga izifo amafa monomonogennye.

diagnosis umehluko

isifo Stargardt ifanele ibe kwahlulwe cone-ngentonga-ne, cone, kunye wand-cone muscular, progressive foveal muscular, elibalaseleyo, Juvenile Retinoschisis, macular muscular vitelliformnoy.

Kwakhona, zahlula uxilongo siboniswa khulelwa toxemia efumaneke ngenxa idosi yamehlo (ngakumbi, xa retinopathy hlorokvinovoy).

Ngaba iyanyangeka sisifo Stargardt kaThixo?

unyango Etiologic ayisekho. Akubikho isifo Stargardt kaThixo? abangabancedani Treatment ubhalo iquka isitofu ukusetyenziswa parabulbar lwe taurine kunye antioxidants intshayelelo kuthetha migqomo ngokwandisa (pentoxifylline, nicotinic acid), kunye steroids.

iivithamini lunganyangwa ekhuthaza udonga inqanawa nokuphucula kwegazi. iivithamini ezisetyenziswa ngokuxhaphakileyo B, A, C, E.

Oku eboniswe ebambe ukuyifundisa. Phakathi kwabo simele bonisa electrophoresis usebenzisa iziyobisi, nqgo semehlo yi laser.

Applied revasulyarizatsiya retina ngu abohlukeneyo kunye kummandla macular Imisonto kwezihlunu.

Ngaphambili ophthalmologists ehlabathini lonke babekholelwa ukuba isifo ayikho zifo. Le amayeza ngasentla ukunceda kancinane kuphela ekulibaziseni ukunwenwa kwesi sifo, kodwa akukho kwenzeka ntoni ukunqanda oko.

Njengoko umthetho, unyango zange ukusindisa abantu kokulahlekelwa ngokupheleleyo umbono. Ezifunekayo ukuze kuphuhliswe indlela eyayiza lula nokubuyiselwa izakhiwo ezimashakeleyo ocular.

Ubuchule ezintsha unyango

Ingaba kukho okwangoku indlela eziluncedo ukuze ukususwa leengxaki ezifana nesifo Stargardt kaThixo? Indlela ukunyanga isifo esinzulu? Le ndlela iye ecetywayo ngo-2009 nguGqirha Aleksandrom Dmitrievichem Romaschenko, ngubani na ke intloko yeZiko Zeliso "ON Clinic" (Saint-Petersburg, ul. Marata, ndlu 69, ukwakha B). Bona ngcono ukhetho unyango lwesifo esekelwe unyango inyama zeselula.

Isiseko kunyango isicelo iiseli esiqwini inwebu umntu adipose zizifo. Indlela therapeutic waphuhliswa zizazinzulu ngaphambili VP Filatov. Ngenxa ubugcisa ezintsha izigulana banikwa ithuba ukubuyisela umbono ezilahlekileyo kwaye inika ubomi ngokupheleleyo.

Dr. AD yabhaliswa Romashchenko technology entsonkothileyo GCP kwaye enelungelo ezi ndlela zilandelayo unyango cell stem :

• indlela idibene ukususa uhlobo omanzi sifo;
• indlela ezintsonkothileyo paitogeneticheskogo iziko unyango kunye tapetoretinalnoy muscular.

Kwikliniki enye unyango?

Unyango lwezifo ezinzima iye iziko ophthalmologic "Kwi Clinic". Eliziko ibekwe isixeko esifana St. Petersburg. Nokunyanga izifo Stargardt bangena kuphela kwiziko, kuba nguye kuphela eRashiya, apho ubugcisa obunjalo isicelo.

Unyango cell stem ikhuselekile?

Iingcali nga ngokuzithemba ukuqinisekisa ukuba uthomalaliso Itheknoloji AD Romashchenko, kukhuselekile ngokupheleleyo. Kuba unyango weseli yomguli asetyenziswa, leyo ishenxisa ithuba yokulahlwa okanye ezinye iziphumo ezibi.

isiphelo

Shtargradta isifo bt esemncinane yaye ngokukhawuleza kungakhokelela ekulahlekeni ngokupheleleyo lokubona. Kwiimeko ezinqabe kakhulu, ilifa uhlobo elibalaseleyo, wamehlo kancinci. Izigulane bayacetyiswa ukuba batyelele zamehlo, iivithamini kunye ngokunxiba iindondo. Eyona ndlela isebenzayo ukuphelisa ngezifo therapy ingqalelo yi iiseli stem.