Amaurosis azalwa Leber: oonobangela, iimpawu kunye neempawu unyango

Izifo izixhobo olubonakalayo lisoloko zisiwe isigulane eninzi ngokuphazamiseka kunye neengxaki. Amehlo - yeyona sensory umbutho omkhulu. Nalo, abantu babone ihlabathi yaye hlengisa ngokupheleleyo ngokwabo esithubeni. Le ngezifo kakhulu umngcangcazelisi kugqalwa ilahleko umbono engundoqo. Xa yezonyango, kufumaniseka ngokuba amaurosis Leber kaThixo. Unyango, iimpawu, ebangela ukugula - ezi zezinye imiba ekuza kuxoxwa ngazo kwinqaku yanamhlanje.

Inkcazelo sifo ezahlukeneyo

Amaurosis iyunithi ngezifo ocular apho kukho blindness buso okanye iyonke. Le meko sinxulumana nembono ngqo umonakalo omzimba. It is a enye esebenzayo. Isifo esibangelwa zophazamiseko ye-luvo ye-apparatus olubonakalayo. Oku kanye xa, ngexesha loviwo lwamehlo, ugqirha Akaboni naluphi na utyeshelo olumandla. Kulo mzekelo, isigulana ikhalazela lomonakalo olubonakalayo sizingise.

Amaurosis ke iintlobo ezimbini: zezomzuzwana (eziphelayo) kunye naso. Ityala lokuqala iphawulwa kwilahleko umbono okwethutyana. Ukuphuhliswa esi sifo, unobangela woko idla ngokuba ischemia elisengqayini kwemithambo carotid. Ngoncedo lwe amayeza okanye self-umbono ibuyiselwe kungekudala. Ukuba imvelaphi iimpawu ubumfama otshintsho ischemia iqhubeka, utyando olwenziweyo. Olu hlobo tyando kudla ukuthintela kukubethwa kwizigulane.

amaurosis azalwa Leber umdla ingakumbi amagqirha kunye izazinzulu. Ngoko ke, uyacebiswa ukuba bayikhangele loo ngezifo ngokwahlukeneyo.

Features Leber bekhubazekile amaurosis

uhlobo ilifa zesi sifo, oogqirha enxulumene nokuphazamiseka yemfuza rhodopsin imveliso. Lunoxanduva ukuba ukudluliselwa kolwazi kunye ezithungwini kuhlangana ebuchotsheni. Ukuba rhodopsin ngokwaneleyo, kwiretina ngempumelelo kuguqula kokukhanya la apho imifanekiso ebonwayo abhalwe kamva. Ngokutsho izifundo lwakutshanje ngalo mbandela, ukongeza rhodopsin inkqubo zophendlo lwezifo ikwanabela nakwezinye iindawo - iintonga kunye cone.

Leber bekhubazekile amaurosis okokuqala kukhankanyiwe 1867. ISAZINZULU, ogama kamva ngokuba esi sifo, ezichongiweyo obubonakala engundoqo. Oku ngakumbi ubumfama, nystagmus, kunye ukubonakala amabala ubudala kwi fundus. Le ngezifo Kunqabile noko (iimeko ezi-3 kwi-100 lamawaka. Population). Ichaphazela ngokulinganayo amadoda amanenekazi.

Izizathu

Kutheni kukho amaurosis naso Leber? Ubangelwa sifo nangoku ayaziwa. Oogqirha abaninzi bathi ngayo ngenxa yokungabikho izinto ecacileyo neyodwa epithelium (rhodopsin) kunye ziiphotoreceptor. Oku kubangelwa ezingaqhelekanga izinto yemfuza. Pathology ine autosomal imo sofuzo yokosulela. Kubalulekile ukuba kukoyikwa kuphela xa abazali bobabini DNA ekhoyo kwi sofuzo mutated.

Sithetha malunga RPE-65 sofuzo kule chromosome yokuqala. On zezenzululwazi namhlanje, kukho malunga nama-80 iintlobo zofuzo zayo, nto leyo ezibabeka eziliqela iintlobo abiotrophy semehlo. Protein ekhowudiweyo yile gene inoxanduva yokucolwa of retinol kwi epithelium mbala. Phambi yomonakalo yemfuza wachaza inkqubo lutshitshe. Ngenxa yoko, le Yindibanisela rhodopsin zokumisa leyo ebangela ukubonakala iimpawu uphawu esi sifo.

picture clinical

amaurosis azalwa ungenxa Leber kaThixo labonwa yabantwana yasekuqaleni. Xa abantwana lo unesifo idla akukho ingqondo ezibonwayo. Ba sine- kwenzakale amaxesha ngokwabo. Kubalulekile ukuphawula ukuba yimfama ayikho epheleleyo ekuzalweni. Ngexesha ubomi umntwana yena iqhubeka, kodwa kufutshane ufikisa kukhokelela ukugqiba ukulahleka umbono. Nangona kunjalo, kukho ukuxolelwa.

amaurosis azalwa Leber kaThixo luphawulwa mpawu zilandelayo:

1. movement eye ngokuzenzekelayo.
2. Abafundi basabela kakuhle ekukhanyeni.
3. Umntwana kunzima ngokwaneleyo ukuba ukujolisa amehlo akhe phezu into enye. Oku kusebenza akuthethi ukwahlula izinto ezikufuphi.
4. Jonga rhoqo ibaleka.
5. Pathology Idla yi keratoconus. Le isiphene apho inwebu liyitshintshe uqwalaselo eqhelekileyo. Iba cone-ezimile.

amaurosis azalwa Leber kaThixo, kwiimeko ezininzi, nto zicwangcisiwe kwaye ezinxulumene kunye nezinye izifo. abantwana abanjalo abazizidalwa engqondweni. Zikholisa ukuba buthuntu okanye hayi. Esi sifo zincediswe nokunye ukukhubazeka amalungu zangaphakathi.

iindlela isifo

Ngenxa yenani elikhulu ukwenza izinto sifo kweenkqubo ezahlukeneyo ngamanye amaxesha kunzima ngexesha wasola Leber bekhubazekile amaurosis. Oonobangela, iimpawu zesi sifo yaye uninzi lwabazali abazi. Ngoko ke, musa ngoko nangoko kufuna uncedo evela kugqirha.

Uxilongo libandakanywe wamehlo. Ngamanye amaxesha ufuna uncedo leengcali ngaphandle :. luvo, Angiology, njl Examination of isigulane luqala ukufunda imbali yayo. Kulo mzekelo, ugqirha ngethuba loviwo basenokubuza ekucaciseni imibuzo. Ngokomzekelo, xa iimpawu zokuqala zesi sifo yabonakala, amatyala amaurosis amanye amalungu entsapho sele iboniwe.

Kunyanzelekile ukuba oyingcaphephe encinane isigulane ihlola fundus lwalo, iitsheki umbono, reflex olubonakalayo quality. Ukuba kuyimfuneko, oko sibhekiswe i-MRI, kwakunye kumisela thethwano ezongeziweyo zofuzo u.

Iimpawu therapy

amaurosis azalwa Leber alikho zifo. Okufanelekileyo, ngokutsho kwezinye ophthalmologists ingqalelo ukuqeshwa unyango yesondlo. Loo nto iquka ukusetyenziswa izakhiwo vitamin, inaliti intraocular kunye neziyobisi vasodilator.

Ngokuqhelekileyo, izigulane ezinjalo, ngexesha ilondoloza kwinqanaba obaneleyo lwembono, ugqirha ubeka iindondo. Noko ke, ngoncedo lwabo kunzima kakhulu ukwahlula phakathi yobuso zabanye. Umntwana compulsorily ufake kwi-akhawunti neuropathologist.

Bazali, ke, kufuneka ukhankanye umgama apho umntwana uyakwazi ukwahlula phakathi amazwi abanye abantu. Ukuze kwakhiwe efanelekileyo inkqubo luvo kungcono kuba lebanga spacers. Le ndlela iza kwenza umntwana ukuqaphela ubuso, nembonakalo yobuso ekukhupheleni ukuba uqhagamshelane isizalwane.

Le abane ukuba izigulane

Ukuza kuthi ga ngoku, oogqirha akunamandla okunikela zombini ndlela ekujoliswe esebenzayo ukujongana amaurosis. Noko ke, ehlabathini jikelele, izazinzulu kuqhubeka nokuPhonononga kwiimvavanyo zeklinikhi bafune amayeza jikelele. Ezinye zezi ukubonisa iziphumo ezihle. Ngokomzekelo, xa kuqhutywa retina RPE65 zofuzo izigulane iliso zibonisa ukuphucuka okubonakalayo embonweni.

Ke ukuba abantu abane isifo, kwiimeko ezingaginyisi mathe. Malunga nama-95% ezigulane ukuya kwiminyaka-10 kukho ilahleko ngokupheleleyo umbono.