Ingabe wena noma ingane yakho ninezinkinga zokubona? Funda nge-Stargardt Disease!

Ingabe wena noma ingane yakho ninenkinga lapho ningakwazi ukubona izinto ngqo phambili, noma ukubona kwenu kuba lufifi? Mhlawumbe ningabona izinto ezinizungezile, kodwa lokho enikubhekayo akucaci. Uma unezimpawu ezinjengalezi, imbangela eyodwa engaba khona yisimo esibizwa ngokuthi i-Stargardt Disease . Ake sixoxe ngalokhu ngendlela elula eningayiqonda.

Iyini i-Stargardt Disease?

Kalula nje, isifo sikaStargardt yisimo esithinta ingxenye ebaluleke kakhulu yamehlo ethu , i-'macula' . Cabanga ngale ndlela: uma iso lakho lifana nekhamera, i-'retina' iyi-membrane ngemuva kwekhamera, njengefilimu, lapho kuqoshwa khona izithombe. I-'macula' yindawo encane ezwela kakhulu phakathi kwe-'retina'. Uma sibheka phambili, lapho sifunda incwadi, lapho sibheka ubuso bomuntu, yi-'macula' le esisiza sibone izinto ngokucacile. Lokhu sikubiza ngokuthi 'umbono ophakathi' .

Uma une-Stargardt Disease, "umbono wakho ophakathi" uyancipha kancane kancane ngokuhamba kwesikhathi. Ngezinye izikhathi, lokhu kungathinta "umbono wakho ongaphandle", okuyikhono lokubona izinto ezizungezile amehlo akho.

Cishe uke wezwa ngokuwohloka kwe-macular . Kuyisifo esivame ukuhlasela abantu abadala, ikakhulukazi labo abaneminyaka engaphezu kwengu-60. Sibizwa ngokuthi ukuwohloka kwe-macular okuhlobene nobudala . Kodwa-ke, isifo i-Stargardt sihlukile. Sivame ukuhlasela izingane kanye nentsha engaphansi kweminyaka engu-20. Yingakho odokotela ngezinye izikhathi besibiza ngokuthi ukuwohloka kwe-macular kwentsha . Uma kuthinta imiphetho ye-retina, kubizwa ngokuthi i-fundus flavimaculatus .

Manje ake sibone ukuthi kungani lokhu kwenzeka. Imizimba yethu inomuthi ophuzi, onamafutha obizwa ngokuthi i-'lipofuscin' . Ngokuvamile, lokhu kukhishwa emzimbeni. Kodwa-ke, kumuntu onesifo i-Stargardt, le 'lipofuscin' ikhiqizwa ngokweqile noma ayikhishwa kahle. Bese le 'lipofuscin' eyengeziwe iqoqana ku-'retina'. Lokhu kubangela umonakalo kuma- 'photoreceptors', uhlobo olukhethekile lweseli elizwela ukukhanya ku-'retina' . Ngokuhamba kwesikhathi, lo monakalo ubangela ukulahlekelwa umbono unomphela.

Ziyini izimpawu zesifo i-Stargardt?

Isifo iStargardt singabangela izinguquko ezilandelayo emehlweni akho nasekuboneni:

• Ukubona amabala amnyama noma izindawo ezifiphele embonweni:Uma ubheka phambili, ezinye izindawo zingase zibonakale zimnyama noma zinenkungu.
• Umbono ofiphele : Ukubona izinto ngokucacile, umbono ofiphele.
• Ukuzwela kokukhanya: Ukuzizwa unenkinga yokubona elangeni noma ekukhanyeni okukhanyayo.
• Ubumpumputhe obusha bombala: Ngisho noma ububona imibala ngokucacile, manje awusakwazi ukuhlukanisa eminye imibala kahle.
• Ubunzima bokuzivumelanisa nokukhanya okuphansi/okuphezulu: Uma ngokuzumayo usuka endaweni ekhanyayo uye endaweni emnyama, noma uma usuka endaweni emnyama uye endaweni ekhanyayo, kuthatha isikhathi eside ukuthi amehlo ajwayele.
• Umbono ongemuhle ebusuku : Umbono wasebusuku uya ngokuya uncipha kunangaphambili.

Into ebalulekile ukuthi izimpawu zesifo i-Stargardt zivame ukukhula kancane kancane. Ngokuhamba kwesikhathi, ungase ulahlekelwe cishe yiwo wonke umbono wakho ophakathi. Kodwa-ke, ungase ukwazi ukubona ibanga elithile ngaphandle kwamehlo akho (umbono ongaphandle). Kodwa-ke, izinto eziqondile zizoncipha.

Yiziphi izimbangela zesifo iStargardt?

Isifo iStargardt "siyisimo sofuzo" . Okusho ukuthi, sibangelwa ushintsho ezizakhini zethu zofuzo. Ikakhulukazi, imbangela eyinhloko ushintsho esizakhini sofuzo esibizwa ngokuthi "i-ABCA4 gene." Lesi "i-ABCA4 gene" sisiza "i- retina" yethu ukuthi isebenze kahle.

Lokhu 'kuwufuzo' . Lokho kusho ukuthi kudluliselwa kusuka kubazali kuya ezinganeni. Isifo iStargardt sizuzwe njengefa 'ngephethini yokubuyisa i-autosomal' . Kalula nje, ukuze ingane ibe nalesi sifo, bobabili umama nobaba kumele babe nalesi sici sofuzo esishintshiwe i-'ABCA4'. Akwanele ukuba umuntu oyedwa abe naso.

Odokotela bakuthola kanjani lokhu? (Ukuxilongwa)

Udokotela wamehlo anganquma ukuthi unalesi sifo yini. Uzohlola amehlo akho, ahlole umbono wakho, futhi ahlole impilo yamehlo akho. Kuzodingeka utshele udokotela ukuthi izimpawu zakho ziqale nini nokuthi yiziphi izinkinga onazo.

Kungadingeka futhi wenze ezinye izivivinyo ezifana nalezi:

• I-Electroretinography (ERG): Lokhu kubheka indlela i-retina yakho esabela ngayo ekukhanyeni okungena esweni lakho.
• I-Fluorescein angiography: Lokhu ukuhlolwa kokubona imithambo yegazi ngaphakathi kweso.Bheka, bafaka idayi ekhethekile emthanjeni osengalweni yakho bese bethatha izithombe zengaphakathi leso lakho.
• Izithombe ze-Fundus kanye nezithombe ze-fundus autofluorescent: Lokhu kuthatha izithombe ezicacile ze-retina yakho kanye ne-macula. Lokhu kukuvumela ukuthi ubone ukuthi i-lipofuscin ifakwa kanjani.
• Ukuhlolwa kwezakhi zofuzo : Lokhu kungaqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-ABCA4.
• I-Optical coherence tomography (OCT): Lokhu kufana nokuskena kwe-retina. Kungabheka izinto ezifana nobukhulu bezingqimba ze-retina, ukuthi i-lipofuscin ikhona yini, nokuthi yonakele yini.

Yiziphi izigaba zesifo iStargardt?

Udokotela wakho wamehlo angahlukanisa lesi sifo ngezigaba eziningana, kuye ngokuthi siqhubeka kanjani. Nansi indlela:

• Isigaba 1: Kulesi sigaba, into ephuzi ebizwa ngokuthi i-lipofuscin iqala ukwakheka njengamabala amancane ku-macula. Ungase ube nezimpawu ezincane kakhulu, noma ungabi nazo nhlobo izimpawu.
• Isigaba sesi-2: Manje lawo mabala e-'lipofuscin' asesakazekele kwezinye izindawo ze-'retina' ezizungeze i-'macula.' Manje kungenzeka ukuthi usuqala ukuzwa izimpawu ngokucacile kunangaphambili.
• Isigaba 3: Kulesi sigaba, izinhlayiya ze-`lipofuscin` eziqongelelekile ziqala ukuqongelelana ku-`macula` futhi ziqale ukulimaza i-`macula`. Lokhu kubizwa ngokuthi i-`atrophy` ( ukufa kweseli). Lokhu kwenza izimpawu zibe zimbi kakhulu.
• Isigaba 4: Umonakalo (ukuwohloka) kwe-macula manje usukhulu kakhulu. Lokhu kungaholela ekulahlekelweni okuphelele noma okuyingxenye kombono wakho ophakathi.

Yiziphi izindlela zokwelapha isifo i-Stargardt?

Ngeshwa, okwamanje akukho ukwelashwa kwe-Stargardt Disease noma yiluphi uhlobo lokwelashwa olungalungisa umonakalo oluwubangelayo. Kodwa ungakhathazeki. Udokotela wakho wamehlo angakusiza ukuphatha izimpawu zakho futhi wehlise izinga lokulahlekelwa umbono. Ungenza izinto ezinjengalezi:

• Gwema ukuthatha izithasiselo eziqukethe i-vitamin A. Ezinye izifundo zikhombisile ukuthi abantu abane-Stargardt Disease bangase balahlekelwe umbono ngokushesha uma bethatha i-vitamin A eningi kakhulu. Ngakho-ke, ungathathi noma yiziphi izithasiselo ze-vitamin A ngaphandle kokukhuluma nodokotela wakho.
• Ukusebenzisa izibuko, ama-contact lens kanye/noma izinsiza zokubona okuphansi kungakusiza kakhulu ngemisebenzi yakho yansuku zonke.
• Yeka ukubhema (neminye imikhiqizo equkethe i-nicotine efana nokuvapha) ngokuphelele. Ukubhema akukuhle nhlobo emehlweni akho.
• Gqoka isigqoko noma izibuko zelanga ezinhle ukuze uvikele amehlo akho uma uphuma ngaphandle.

Khumbula, lokhu akuzona izindlela zokwelapha. Kodwa-ke, kungakusiza uphile kahle isikhathi eside ngangokunokwenzeka.

Ingabe isifo iStargardt singalapheka?

Okwamanje akukho ukwelashwa kwesifo i-Stargardt. Kodwa-ke, udokotela wakho wamehlo angakusiza ukuthi uphile nalesi simo.

Kunezindaba ezinhle. Abacwaningi bayaqhubeka nokwenza izivivinyo zemitholampilo ukuthola izindlela ezintsha zokwelapha izimo ezifana nokuwohloka kwe-macular (kufaka phakathi i-Stargardt Disease). Buza udokotela wakho wamehlo ukuthi ungahlanganyela yini kwenye yalezi zivivinyo zemitholampilo. Uma kunjalo, ungase uthole ithuba lokuthola izindlela zakamuva zokwelapha ezivivinywayo.

Kufanele ngifune nini iseluleko sezokwelapha?

Bona udokotela noma udokotela wamehlo ngokushesha nje lapho ubona noma yiziphi izinguquko emehlweni akho noma ekuboneni. Izimpawu ze-Stargardt Disease zingafana nezezinye izifo zamehlo, mhlawumbe ezivame kakhulu. Ngakho-ke, kubaluleke kakhulu ukuxilonga nokwelapha noma yiziphi izinkinga zamehlo ngokushesha okukhulu .

Yini ongayilindela uma unesifo i-Stargardt?

Kufanele ulindele ukulahlekelwa umbono wakho ophakathi kancane kancane. Kwabaningi abantu, lokhu kulahlekelwa kwenzeka kancane kancane, eminyakeni edlule, ngezinye izikhathi amashumi eminyaka. Kodwa-ke, kwabanye abantu, kungenzeka ngokushesha. Uhlobo lokuguquka kwezakhi zofuzo zakho ze-ABCA4 lunganquma ukuthi ulahlekelwa umbono ngokushesha kangakanani nokuthi ulahlekelwa umbono ongakanani. Udokotela wakho wamehlo uzokutshela okwengeziwe ngalokhu.

Kuzodingeka uhlolwe amehlo njalo . Buza udokotela wakho ukuthi kufanele uhlolwe amehlo kangaki nokuthi yiziphi ezinye izivivinyo okufanele uzenze.

Ngingazinakekela kanjani ngesifo i-Stargardt?

Kunezinto eziningi ongazenza ukuze uzinakekele:

• Yidla ukudla okunomsoco. Yidla imifino nezithelo eziningi.
• Ukuzivocavoca. Ukugcina umzimba wakho usebenza kahle kuyo yonke into.
• Ungabhemi.
• Lawula ukucindezeleka.
• Yiya kudokotela wakho ngesikhathi.

Kufanele ngimbone nini udokotela wami uma nginesifo i-Stargardt?

Udokotela wakho wamehlo uzokutshela ukuthi uqhubeke nokuwabona. Qiniseka ukuthi uyahamba ngalezo zinsuku. Futhi, uma unezinguquko ezisheshayo embonweni wakho, noma uma uzwa ubuhlungu noma ukungakhululeki emehlweni akho, bona udokotela wakho ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami mayelana ne-Stargardt Disease?

Uma unesifo i-Stargardt, ungase ufune ukubuza udokotela wakho imibuzo efana nale:

• Ungangipha iqembu lokusekelana nabanye ababhekene nalesi simo?
• Ingabe ngiyafaneleka ukubamba iqhaza 'esivivinyweni somtholampilo' ?
• Ingabe kufanele ngikhulume nomeluleki wezakhi zofuzo ? (Lokhu kungakusiza ukuthi uthole ukuthi amanye amalungu omndeni wakho asengozini yini.)
• Ungangiphakamisa yini amathuluzi noma izindlela ezingangisiza ngenze imisebenzi yansuku zonke kalula ngingaboni kahle ?

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Ukuphila ne-Stargardt Disease kungaba yinto eyesabekayo. Noma yini ethinta umbono wakho ingaba nomthelela omkhulu kuwe. Kodwa awuwedwa. Udokotela wakho wamehlo kanye nethimba lezempilo bangakusiza ukuthi uvumelane nezinguquko zakho zombono, uvikele amehlo akho, futhi uphile impilo ephephile nekhululekile.

Nakuba okwamanje kungekho ikhambi le-Stargardt Disease, abacwaningi bahlala befuna izindlela ezintsha zokwelapha. Uma unesifiso, khuluma nodokotela wakho mayelana nokubamba iqhaza esivivinyweni somtholampilo. Ungapheli amandla!

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