Amaurosis azalwa naso Leber: izimbangela, izimpawu kanye nezici ukwelashwa

Izifo apharathasi ezibukwayo njalo anikezwe isiguli eziningi ngokuphazamisa futhi izinkinga. Amehlo - main isitho sezinzwa. Ngalo, abantu bangabona emhlabeni futhi Orient ngokugcwele ngokwabo emkhathini. I zokugula esibi kunazo kubhekwa ukulahlekelwa umbono emaphakathi. Zokwelapha, butholakala ngokuthi amaurosis Leber sika. Ukwelashwa, izimpawu, izimbangela zokugula - lezi ezinye nje izimpikiswano ezodingidwa esihlokweni lanamuhla.

Incazelo lesi sifo futhi ezahlukeneyo zalo

Amaurosis kuyinto ocular zokugula iyunithi lapho kukhona ubumpumputhe ngokwengxenye noma ngokuphelele. Lesi simo ongakaphathelani umbono oqondile umonakalo isitho. Kuyinto eyodwa sokusebenza. A yisifo esibangwa ukuphazamiseka izinzwa we-apharathasi ezibukwayo. Lokhu kufana poro icala lapho, phakathi kokuxilongwa amehlo, udokotela akaboni iyiphi ngeziphambeko abalulekile. Kulokhu, isiguli ekhononda ka eziphikelelayo ongaboni.

Amaurosis kuyinto ezinhlobo ezimbili: lezivakashi (lezivakashi) kanye azalwa nako. Icala lokuqala elinesimo ukulahlekelwa okwesikhashana futhi sizibona ngokucacile. Ukuthuthukiswa lesi sifo, ngokuvamile zibangelwa ischemia e somfula Umthambo carotid. Ngosizo imithi noma ukuzilimaza umbono kubuyiselwa ngokushesha. Uma isizinda lezivakashi izimpawu yobulukhuni ischemia iqhubeka, ukuhlinzwa wenziwa. Lolu hlobo operation ngokuvamile ukuvimbela unhlangothi in iziguli.

amaurosis azalwa naso Leber athakazelisa ngokukhethekile odokotela nososayensi. Ngakho-ke, kuhle ukucabangela lesi zokugula ngokwehlukile.

Izici Leber amaurosis azalwa naso

ifomu Ukubambezeleka lesi sifo, odokotela exhunywe ne izifo ezibangelwa ufuzo rhodopsin ukukhiqizwa. Kuyinto unesibopho yokudlulisa ulwazi eduze izinyanda ezinzwa asebuchosheni. Uma rhodopsin ngokwanele, i-retina kwaba ngempumelelo siguqule ukukhanya ku pulses zazo ebukwayo akhiwa kamuva. Ngokocwaningo lwamuva ngale ndaba, ngaphezu rhodopsin inqubo sokugembula futhi kudlulela nezinye izindawo - izinduku kanye Izigaxa.

Leber amaurosis azalwa naso okokuqala sashiwo 1867. Usosayensi, ogama lakhe lalingu-kamuva owabizwa ngokuthi lesi sifo, akhonjwe zako esiyinhloko. Lokhu kunjalo, ikakhulu ubumpumputhe, nystagmus, futhi ukubukeka ubudala namachashaza fundus. I zokugula kuyinto ayeyivelakancane (3 amakesi 100 ayizinkulungwane. Population). It ngokulinganayo kuthinta abesilisa ladies.

Izizathu eziyinhloko

Kungani kukhona amaurosis azalwa naso Leber? Izimbangela zesifo kukhona ayikaziwa. Odokotela abaningi bathi ngakho ngenxa yokuntuleka izakhi ecacile ngokucacile sombala epithelium (rhodopsin) nge-photoreceptors. Sibangelwa kwezinso of zofuzo. Pathology ine autosomal imodi esikhubazayo yokudlulisela. Kuyinto okumelwe esatshwe kuphela uma bobabili abazali DNA elikhona isakhi sofuzo soguquko lwegciwane singalawuleka.

Sikhuluma isakhi sofuzo RPE-65 e-chromosome kuqala. On usosayensi namuhla, zikhona mayelana 80 izinhlobonhlobo ukuguquka kwezakhi zofuzo zayo, okuyinto kubenza bavame eziningi izinhlobo abiotrophy ngwengwzi. Amaphrotheni okubhalwe yilesi sakhi unesibopho umzimba retinol ku epithelium sombala. Ephambi kwezinduna isici zofuzo echazwe inqubo ehluleka. Ngenxa yalokho, ukuhlanganiswa kwezici rhodopsin eyeka eliphumela ukubonakala izimpawu sici sifo.

emitholampilo isithombe

amaurosis Ukubambezeleka Leber sika azalwa naso itholwa ekuqaleni kuka ebuntwaneni. Ezinganeni nale Ihlahlubo ngokuvamile akukho ikhaliphe ezibukwayo. Ziyakwazi kunemibhalo eyayihunyushwe kabi futhi ngezinye izikhathi ona ngokwabo. Kuyaphawuleka ukuthi ubumpumputhe akuyona ngokuphelele lapho sizalwa. Phakathi nokuphila ingane iqhubeka, kodwa eduze ukuthomba kuholela ukuqeda ukulahleka umbono. Nokho, kunokuningi okungakhulunywanga ngakho.

amaurosis azalwa naso Leber sika libhekene zimpawu ezilandelayo:

1. Okungalindelekile iso ukunyakaza.
2. Abafundi basabela kahle ukuze ukukhanya.
3. Ingane kanzima ngokwanele ukugxila amehlo akhe entweni eyodwa. It cishe akusho ukuhlukanisa izinto eziseduze.
4. Bheka njalo iyazula.
5. Pathology uvame ukuhambisana keratoconus. Lokhu kungapheleli lapho cornea okushintsha ukucushwa ezivamile. Kuba Isigaxa emise.

amaurosis Leber sika azalwa naso, ezimweni eziningi, kuba letindzala ngokwemvelo futhi lihlotshaniswa nezinye izifo. Izingane ezinjalo kufanele retardation engqondo. Ngokuvamile baba ukungezwa kahle noma cha. Lesi sifo kwahambisana by ezinye kwezinso kwezitho zangaphakathi.

izindlela ukuxilongwa

Ngenxa inqwaba isifo ukubonakaliswa we izinhlelo ezehlukene ngesinye isikhathi kunzima esifike ngesikhathi esolwa Leber amaurosis azalwa nako. Izimbangela, izimpawu zalesi sifo futhi iningi abazali abazi. Ngakho-ke, musa ngokushesha ukufuna usizo lukadokotela.

Ukuxilonga ukwenza kudokotela wamehlo okunethiwethi. Ngezinye izikhathi udinga usizo ongoti ngaphandle :. Neurologist, Angiology, njll Ukuhlola nesineke iqala ukutadisha umlando walo. Kulokhu, lo dokotela ngesikhathi luhlolo angacela hlandla imibuzo. Ngokwesibonelo, lapho izimpawu zokuqala zesifo ebonakala, amacala amaurosis amanye amalungu omndeni sekutholakale.

Kuphoqelekile ukuthi ube uchwepheshe kancane nesineke uhlola fundus esweni, umbono amasheke, izinga reflex ezibukwayo. Uma kudingeka, siqondiswe i-MRI, kanye ukuqoka kokubonisana eyengeziwe nge isazi sezakhi zofuzo.

ukwelashwa Izici

amaurosis Leber sika azalwa naso asilapheki. Ifanele ngokusho kwezinye izincwadi, bamehlo kubhekwa ukuqokwa yokwelapha yesondlo. Inkambo enjalo kuhlanganisa nokusetshenziswa Vitamin izakhiwo, umjovo intraocular futhi vasodilator izidakamizwa.

Ngokuvamile, iziguli ezinjalo, ngenkathi sigcina ezingeni ezanele buka, udokotela ekunika izibuko. Nokho, ngisho ngosizo lwabo kunzima kakhulu ukuhlukanisa phakathi isimo sobuso yabanye. Ingane compulsorily agqoke akhawunti ngesikhathi neuropathologist.

Bazali, esikhundleni salokho, kufanele ucacise ibanga lapho umntwana uyakwazi ukuhlukanisa phakathi Inkulumo abanye abantu. Ukuze ukwakheka kahle isimiso sezinzwa esiyinhloko kungcono ukuba uhla ecacisiwe spacers. Lokhu kuzovumela ingane lokukhumbula ubuso asebake babubona, ngibone isimo sobuso bakhe ukuze ukopishe bese ukuxhumana oyisihlobo.

Onalesi sifo ngoba iziguli

Kuze kube manje, odokotela abakwazi anikele aqondile futhi ngempumelelo indlela yokubhekana amaurosis. Nokho, emhlabeni wonke, ososayensi basaqhubeka befuna ukuqhuba zokwelapha kanye ukufuna imithi jikelele. Abanye balaba babonisa imiphumela emihle. Ngokwesibonelo, lapho iphathwe retina RPE65 isakhi sofuzo iziguli iso ukukhombisa ukuba ngcono okukhulu embonweni.

Ngokuqondene Izibikezelo isifo, kuba ezimweni eziningi ezingezinhle. Cishe 95% eziguli iminyaka engu-10 kukhona ukulahleka okuphelele umbono.