Ngaba wena okanye umntwana wakho ninengxaki yokubona? Funda ngeSifo seStargardt!

Ngaba wena okanye umntwana wakho ninengxaki apho ningakwazi ukubona izinto ngqo phambili, okanye umbono wenu uya ufiphala? Mhlawumbi nibona izinto eziningqongileyo, kodwa into eniyijongileyo ayicacanga. Ukuba uneempawu ezinje, esinye isizathu esinokwenzeka yimeko ebizwa ngokuba yiStargardt Disease . Masithethe ngale nto ngendlela elula onokuyiqonda.

Yintoni isifo iStargardt?

Ngamafutshane, isifo sikaStargardt sisifo esichaphazela eyona nxalenye ibalulekileyo yamehlo ethu , i-'macula' . Cinga ngale ndlela: ukuba iliso lakho lifana nekhamera, i-'retina' yi-membrane engasemva kwekhamera, njengefilimu, apho kubhalwa khona imifanekiso. I-'macula' yindawo encinci ebuthathaka kakhulu embindini we-'retina'. Xa sijonga ngqo phambili, xa sifunda incwadi, xa sijonga ubuso bomntu, yi-'macula' esinceda sibone izinto ngokucacileyo. Oku sikubiza ngokuba 'yimbono ephakathi' .

Xa uneSifo iStargardt, "umbono wakho ophakathi" uyancipha kancinci kancinci ngokuhamba kwexesha. Ngamanye amaxesha, oku kunokuchaphazela "umbono wakho ongaphandle", oku kukwazi ukubona izinto ezijikeleze amehlo akho.

Mhlawumbi ukhe weva nge -macular degeneration . Sisifo esidla ngokuchaphazela abantu abadala, ingakumbi abo baneminyaka engaphezu kwama-60. Sibizwa ngokuba yi -age-related macular degeneration . Nangona kunjalo, isifo seStargardt sahlukile. Sidla ngokuchaphazela abantwana kunye nabantu abancinci abangaphantsi kweminyaka engama-20. Yiyo loo nto oogqirha ngamanye amaxesha besibiza ngokuba yi -juvenile macular degeneration . Xa sichaphazela imiphetho ye-retina, sibizwa ngokuba yi-fundus flavimaculatus .

Ngoku makhe sibone ukuba kutheni oku kusenzeka. Imizimba yethu inento etyheli, enamafutha ebizwa ngokuba yi -'lipofuscin' . Ngokwesiqhelo, le nto ikhutshwa emzimbeni. Nangona kunjalo, kumntu onesifo seStargardt, le 'lipofuscin' iveliswa kakhulu okanye ayikhutshwa kakuhle. Emva koko le 'lipofuscin' eyongezelelweyo iqokelelana kwi-'retina'. Oku kubangela umonakalo kwi- 'photoreceptors', uhlobo olukhethekileyo lweseli ebonakala ekukhanyeni kwi-'retina' . Ekuhambeni kwexesha, lo monakalo ubangela ukulahleka kokubona okungapheliyo.

Zithini iimpawu zesifo iStargardt?

Isifo seStargardt sinokubangela olu tshintsho lulandelayo emehlweni akho nasekuboneni:

• Ukubona amabala amnyama okanye iindawo ezifipheleyo embonweni:Xa ujonge ngqo phambili, ezinye iindawo zinokubonakala zimnyama okanye zinenkungu.
• Umbono ofipheleyo : Ukubona izinto ngokucacileyo, umbono ofipheleyo.
• Uvakalelo lokukhanya: Ukuziva kunzima ukubona elangeni okanye kwizibane ezikhanyayo.
• Ukungaboni imibala okutsha: Nangona ubuyibona imibala ngokucacileyo, ngoku awukwazi ukwahlula eminye imibala ngokufanelekileyo.
• Ubunzima bokuqhela ukukhanya okuphantsi/okuphezulu: Xa ngequbuliso usuka kwindawo ekhanyayo uye kwindawo emnyama, okanye xa usuka kwindawo emnyama uye kwindawo ekhanyayo, kuthatha ixesha elide ukuba amehlo aqhele.
• Umbono ombi ebusuku : Umbono wasebusuku uya uncipha kunangaphambili.

Into ebalulekileyo kukuba iimpawu zeSifo iStargardt zihlala zikhula kancinci kancinci. Ngokuhamba kwexesha, unokulahlekelwa phantse yiyo yonke into oyibonayo phakathi. Nangona kunjalo, usenokukwazi ukubona umgama othile ngaphandle kwamacala amehlo akho (umbono ongaphandle). Nangona kunjalo, izinto ezithe ngqo phambili aziyi kucaca.

Zithini izizathu zesifo iStargardt?

Isifo seStargardt "sisifo esibangelwa yimfuza" . Oko kukuthi, sibangelwa kukutshintsha kwemfuza yethu. Ngokukodwa, imbangela ephambili kukutshintsha kwemfuza ebizwa ngokuba yi-"ABCA4 gene." Le mfuza ye-"ABCA4 gene" inceda i-" retina" yethu ukuba isebenze ngokufanelekileyo.

Oku 'kukufuzwa' . Oko kuthetha ukuba sidluliselwa kubazali ukuya ebantwaneni. Isifo iStargardt sizuzwa 'kwindlela yokuzala ye-autosomal' . Ngamafutshane, ukuze umntwana abe nesi sifo, umama notata kufuneka babe nale jini itshintshiweyo 'ye-ABCA4'. Akwanelanga ukuba umntu omnye abe naso.

Oogqirha bayixilonga njani le nto? (Ukuxilongwa)

Ugqirha wamehlo angakufumanisa ukuba unaso na esi sifo. Uza kuhlola amehlo akho, ajonge umbono wakho, aze ajonge impilo yamehlo akho. Kuya kufuneka umxelele ugqirha ukuba iimpawu zakho ziqale nini kwaye zeziphi iingxaki onazo.

Kusenokufuneka wenze uvavanyo olufana nolu:

• I-Electroretinography (ERG): Oku kujonga indlela i-retina yakho esabela ngayo ekukhanyeni okungena kweliso lakho.
• I-Fluorescein angiography: Olu luvavanyo lokubona imithambo yegazi ngaphakathi kweliso.Khangela, bafaka idayi ekhethekileyo emthanjeni osengalweni yakho baze bathathe imifanekiso yangaphakathi kweliso lakho.
• Ukufota iFundus kunye nokufota iFundus autofluorescent: Oku kuthatha imifanekiso ecacileyo ye-retina kunye ne-macula yakho. Oku kukuvumela ukuba ubone indlela i-lipofuscin efakwa ngayo.
• Uvavanyo lwemfuza : Oku kunokuqinisekisa ukuba kukho utshintsho kwimfuza ye-ABCA4.
• I-Optical coherence tomography (OCT): Oku kufana nokuskena i-retina. Ingajonga izinto ezifana nobukhulu beengqimba ze-retina, nokuba ikhona na i-lipofuscin, nokuba yonakele na.

Zithini izigaba zesifo iStargardt?

Ugqirha wakho wamehlo angahlula esi sifo sibe ngamanqanaba ahlukeneyo, kuxhomekeke kwindlela esiqhubeka ngayo. Nantsi indlela:

• Inqanaba 1: Kweli nqanaba, into etyheli ebizwa ngokuba yi-lipofuscin iqala ukwakheka njengeempuku ezincinci kwi-macula. Usenokuba neempawu ezincinci kakhulu, okanye ungabi nazo kwaphela iimpawu.
• Inqanaba lesi-2: Ngoku loo mabala e-'lipofuscin' asasazeke nakwezinye iindawo ze-'retina' ezijikeleze i-'macula.' Okwangoku usenokuba uqala ukuziva iimpawu ngokucacileyo ngakumbi kunangaphambili.
• Inqanaba lesi-3: Kweli nqanaba, amasuntswana e-`lipofuscin` aqokelelweyo aqala ukuqokelelana kwi-`macula` kwakhona aze aqale ukonakalisa i-`macula`. Oku kubizwa ngokuba yi -`atrophy` ( ukufa kweeseli). Oku kwenza iimpawu zibe zimbi ngakumbi.
• Inqanaba lesi-4: Umonakalo (ukuwohloka) kwe-macula ngoku unzima kakhulu. Oku kunokukhokelela ekulahlekelweni ngokupheleleyo okanye kancinci kombono wakho ophakathi.

Ziziphi iindlela zonyango zesifo seStargardt?

Ngelishwa, okwangoku akukho nyango lweSifo iStargardt okanye naluphi na unyango olunokubuyisela umonakalo oluwubangelayo. Kodwa ungakhathazeki. Ugqirha wakho wamehlo unokukunceda ulawule iimpawu zakho kwaye unciphise izinga lokulahleka kokubona. Ungenza izinto ezinje:

• Kuphephe ukuthatha izongezo ezinevithamini A. Ezinye izifundo zibonise ukuba abantu abaneStargardt Disease banokubona izinto ezingalindelekanga ukuba bathatha ivithamini A eninzi. Ngoko ke, musa ukuthatha naziphi na izongezo zevithamini A ngaphandle kokuthetha nogqirha wakho.
• Ukusebenzisa iiglasi, iilensi zokunxibelelana kunye/okanye izixhobo zokunceda ukubona kancinci kunokukunceda kakhulu kwimisebenzi yakho yemihla ngemihla.
• Yeka ukutshaya (kunye nezinye iimveliso ezine-nicotine ezifana nokutshaya i-vaping) ngokupheleleyo. Ukutshaya akulunganga kwaphela emehlweni akho.
• Nxiba umnqwazi okanye iiglasi zelanga ezilungileyo ukuze ukhusele amehlo akho xa uphuma phandle.

Khumbula, ezi azizo iindlela zonyango. Nangona kunjalo, zinokukunceda uphile ubomi obulungileyo kangangoko unako.

Ngaba isifo sikaStargardt singanyangeka?

Okwangoku akukho nyango lweSifo iStargardt. Nangona kunjalo, ugqirha wakho wamehlo unokukunceda uphile nale meko.

Kukho iindaba ezimnandi. Abaphandi bayaqhubeka nokwenza iimvavanyo zeklinikhi ukuze bafumane unyango olutsha lweemeko ezifana nokuwohloka kwe-macular (kuquka neSifo seStargardt). Buza ugqirha wakho wamehlo ukuba ungabandakanyeka na kolunye lwale zilingo zeklinikhi. Ukuba kunjalo, unokufumana ithuba lokufumana unyango lwamva nje, oluvavanyiweyo.

Ndingalufuna nini uncedo lwezonyango?

Bona ugqirha okanye ugqirha wamehlo ngokukhawuleza nje ukuba ubona naluphi na utshintsho emehlweni okanye ekuboneni kwakho. Iimpawu zeSifo seStargardt zinokufana nezo zezinye izifo zamehlo, mhlawumbi ezixhaphakileyo. Ke ngoko, kubaluleke kakhulu ukuxilonga nokunyanga naziphi na iingxaki zamehlo ngokukhawuleza .

Yintoni onokuyilindela ukuba unesifo iStargardt?

Ufanele ulindele ukulahlekelwa liliso lakho eliphakathi kancinci kancinci. Kubantu abaninzi, oku kulahleka kwenzeka kancinci, kwiminyaka emininzi, ngamanye amaxesha amashumi eminyaka. Nangona kunjalo, kwabanye abantu, kunokwenzeka ngokukhawuleza. Uhlobo lotshintsho kwi-gene yakho ye-ABCA4 lunokumisela ukuba ulahlekelwa liliso ngokukhawuleza kangakanani kwaye ungakanani. Ugqirha wakho wamehlo uza kukuxelela okungakumbi ngale nto.

Kuya kufuneka uhlolwe amehlo rhoqo . Buza ugqirha wakho ukuba kufuneka uhlolwe amehlo kangaphi kwaye zeziphi ezinye iimvavanyo ekufuneka uzenze.

Ndingazinyamekela njani xa ndine-Stargardt Disease?

Zininzi izinto onokuzenza ukuze uzinyamekele:

• Yitya ukutya okunesondlo. Yitya imifuno neziqhamo ezingaphezulu.
• Ukuzilolonga. Ukugcina umzimba wakho usebenza kulungile kuyo yonke into.
• Musa ukutshaya.
• Lawula uxinzelelo.
• Yiya kugqirha wakho ngexesha elifanelekileyo.

Ndifanele ndimbone nini ugqirha wam ukuba ndinesifo iStargardt?

Ugqirha wakho wamehlo uza kukuxelela ukuba uqhubeke umbona. Qiniseka ukuba uyahamba ngaloo mihla. Kwakhona, ukuba kukho naluphi na utshintsho olukhawulezileyo ekuboneni kwakho, okanye ukuba uziva iintlungu okanye ukungakhululeki emehlweni akho, bonana nogqirha wakho ngoko nangoko.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha wam malunga neStargardt Disease?

Ukuba unesifo iStargardt, ungabuza ugqirha wakho imibuzo efana nale:

• Ungandicebisa iqela lenkxaso kunye nabanye abakule meko?
• Ngaba ndifanelekile ukuba ndithathe inxaxheba 'kwisilingo seklinikhi' ?
• Ngaba kufuneka ndithethe nomcebisi wezemfuza ? (Oku kunokukunceda ufumanise ukuba abanye abantu kusapho lwakho basengozini na.)
• Ngaba ungacebisa naziphi na izixhobo okanye iindlela ezinokundinceda ndenze imisebenzi yemihla ngemihla ngokulula xa ndingaboni kakuhle ?

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Ukuphila neSifo iStargardt kunokuba yinto eyoyikisayo. Nantoni na echaphazela umbono wakho inokuba nefuthe elikhulu kuwe. Kodwa awuwedwa. Ugqirha wakho wamehlo kunye neqela lezempilo banokukunceda ulungelelane notshintsho lombono wakho, ukhusele amehlo akho, kwaye uphile ubomi obukhuselekileyo nobukhululekileyo.

Nangona okwangoku kungekho nyango lweSifo iStargardt, abaphandi bahlala bekhangela unyango olutsha. Ukuba unomdla, thetha nogqirha wakho malunga nokuthatha inxaxheba kuvavanyo lweklinikhi. Musa ukunikezela!

Isifo sikaStargardt , Amehlo, Umbono Ophakathi, I-Retina, I-Macula, Izifo Zemfuza