Konke mayelana ne-Choroideremia: isifo esingavamile esibangela ukulahlekelwa umbono kancane kancane

Ingabe nawe uzizwa sengathi umbono wakho uya ngokuya uba mubi ebusuku? Noma ingabe umbono wakho ongaphandle, okungukuthi, umbono wakho obheke emaceleni, uya ngokuya uba mubi kancane kancane? Ngezinye izikhathi asizinaki kakhulu lezi zinto, kodwa zingaba uphawu lwesimo esibucayi esiyisisekelo. Namuhla sizokhuluma ngesifo esingavamile, kodwa esibaluleke kakhulu ukusazi, esingalahlekelwa umbono kancane kancane futhi siholele ngisho nasekungabonini. Lokhu kubizwa ngokuthi i-choroideremia.

Iyini le choroideremia?

Kalula nje, i-Choroideremia yisifo samehlo esingavamile, esidluliselwa ngofuzo esidluliselwa ngofuzo. Sibangela ukuthi ukubona kwamehlo womabili kuwohloke kancane kancane, ekugcineni kuholele ebumpumputheni. Lesi sifo sivame ukuthinta amadoda kakhulu.

Kungenzeka ukuthi uke wezwa ngesinye isifo samehlo esibizwa ngokuthi `(Retinitis Pigmentosa).` Siphinde sibangele ukuthi i-retina ibe buthaka kancane kancane. Ngokumangazayo, izimpawu kanye neminye imiphumela yokuhlolwa kwalezi zifo zombili, `(Choroidemia)` kanye `(Retinitis Pigmentosa), kungafana. Ngakho-ke, indlela engcono kakhulu yokwazi kahle ukuthi yisiphi kulezi zifo ezimbili onaso ukuthola `(ukuhlolwa kofuzo).`

Kwenzekani ngaphakathi kweso? Lokhu kuthinta kanjani umbono?

Amehlo ethu afana namakhamera amangalisayo. Ngaphakathi kweso, kukhona ingxenye ebizwa ngokuthi i-retina . Yilapho kutholakala khona amangqamuzana akhethekile abizwa ngokuthi amaseli e-photoreceptor angakwazi ukubona ukukhanya. Lawa maseli athatha ukukhanya okungena esweni bese ekuguqula kube izimpawu zikagesi. Lezi zimpawu zithunyelwa ebuchosheni nge -optic nerve . Ubuchopho busebenzisa lezi zimpawu ukudala izithombe esizibonayo.

Manje, ngemuva kwale retina, phakathi kwesimbozo sangaphandle esivikelayo esimhlophe (i-sclera) kanye ne-retina, kukhona ungqimba olubizwa ngokuthi i-choroid . Le choroid yilapho i-retina ithola khona ukudla kwayo, okungukuthi, inemithambo yegazi eyinikeza igazi. Cabanga ngakho njengokunikeza amanzi nokondla isitshalo.

Ku-choroideremia, imithambo yegazi ku-choroid iyalimala. Ngemuva kwalokho, i-retina ayitholi igazi elanele, ngakho-ke nayo iqala ukonakala. Lokhu kuthinta kakhulu umbono wethu ongaphandle .

Ivame kangakanani i-Choroideremia?

Lesi yisifo esingavamile kakhulu. Uma sikhuluma nje, kulinganiselwa ukuthi umuntu oyedwa kuphela kwabayi-100,000 noma oyedwa kwabayi-50,000 othola lesi sifo . Lokhu kusho ukuthi ngisho nasezweni lakithi, kungase kube nenani elincane kakhulu labantu abanalesi sifo.

Ziyini izimpawu zalesi sifo? Bheka ukuthi unazo yini lezi.

Izimpawu ze-choroideremia azibonakali ngokuzumayo. Zikhula kancane kancane. Nazi ezinye zezimpawu eziyinhloko:

• Ukungaboni ebusuku (ukungaboni ebusuku) kungenye yezimpawu zokuqala. Ngezinye izikhathi lolu phawu lungabonakala ezinganeni ezingaphansi kweminyaka eyi-10. Cabanga nje, ngisho nasendaweni ekhanyayo lapho abanye bebona kahle, laba bantu abakwazi ukubona kahle.
• Umbono obuthakathaka ongaphandle. Lokhu kusho ukuthi uma ubheka phambili, awukwazi ukubona izinto eceleni. Kungazwakala sengathi ubheka emhubheni.
• Ukuncipha kokubona kahle. Ikhono lokubona izinto ngokucacile nangokucacile liyancipha. Kungaba nzima ukufunda izinhlamvu nokuhlukanisa izinto ezikude.
• Ukungakwazi ukubona imibala kahle. Indlela imibala ebonakala ngayo ingashintsha. Eminye imibala ingaba nzima nokuyibona.
• Kancane kancane, umbono ohlangothini uyalahleka ngokuphelele, okuholela ebumpumputheni. Ekuqaleni, umbono ohlangothini uyancipha, ngokuhamba kwesikhathi kusala umbono ophakathi kuphela, futhi ekugcineni, umbono ophelele ungase ulahleke.

Okubalulekile: Uma unesinye noma ngaphezulu salezi zimpawu, ungacabangi ukuthi yi-choroideremia. Kodwa-ke, kubaluleke kakhulu ukubona udokotela wamehlo ngokushesha ukuze akuhlole.

Kungani i-Choroideremia yenzeka? Ingabe idluliselwa ngofuzo?

Yebo, njengoba sishilo ngaphambili, i-Choroideremia iyisifo esibangelwa izakhi zofuzo. Uma sikhuluma iqiniso, yisifo esibangelwa izakhi zofuzo esixhumene no-X.

Sonke sinezinto ezibizwa ngokuthi ama-chromosome ngaphakathi kwamaseli ethu. La ma-chromosome aqukethe izakhi zofuzo zethu. Abesifazane bane-chromosome ezimbili ze-X (XX). Abesilisa bane-chromosome eyodwa ye-X kanye ne-chromosome eyodwa ye-Y (XY).

I-gene enephutha ebangela i-choroideremia itholakala ku-chromosome X.

Manje, noma ngabe owesifazane une-chromosome eyodwa engu-X enalesi sakhi sofuzo esingasebenzi kahle, uma enye i-chromosome engu-X iphilile, cishe ngeke ibe nomthelela omkhulu. Ngakho-ke, abesifazane abanalesi sakhi sofuzo esingasebenzi kahle ('abathwali') ngokuvamile abahlushwa kakhulu yi-choroideremia njengabesilisa. Kodwa-ke, bangaba nezimpawu ezifana nokungaboni ebusuku njengoba bekhula. Kodwa-ke, ukungaboni ngokuphelele akuvamile kakhulu.

Kodwa-ke, abesilisa bane-chromosome eyodwa kuphela engu-X. Ngakho-ke, uma benalesi sakhi sofuzo esingasebenzi kahle kuleyo chromosome engu-X, banamathuba amaningi okuthuthukisa i-choroideremia.

Indoda enalesi sifo idlulisela i-chromosome yayo ye-X enenkinga emadodakazini ayo. Lawo madodakazi abe eseba ngabathwali balesi sifo. Lawo madodakazi athwala lesi sifo anethuba elingama-50% (elilodwa kwababili) lokudlulisela i-chromosome ye-X enenkinga ezinganeni zawo.

Ihlolwa kanjani i-Choroideremia? Yiziphi izivivinyo ezenziwayo?

Uma unezinye zezimpawu ezibalwe ngenhla, kufanele nakanjani ubonane nodokotela wamehlo. Uzohlola amehlo akho kahle. Ngaphezu kokuhlolwa kwamehlo okuvamile, ungase ucelwe ukuthi wenze izivivinyo ezikhethekile, ezifana nalezi:

• I-Electroretinogram (ERG): Lokhu kuhlolwa kulinganisa indlela i-retina yakho esabela ngayo ekukhanyeni. Nakuba kungase kubonakale sengathi ukuhlolwa okuyinkimbinkimbi, empeleni akubuhlungu kakhulu. Ama-electrode amancane abekwa ebusweni bakho, eduze kwamehlo akho, nasekhanda lakho. Bese kuba khona ucingo oluncane kakhulu (mhlawumbe ilensi) olufakwa ngqo esweni lakho, ngaphezu nje kwejwabu lakho elingezansi. Igumbi libe selimnyama bese kukhanya izibani ezahlukene emehlweni akho ukuze kubonwe ukuthi amangqamuzana aku-retina yakho asebenza kanjani. Lokhu kungakunikeza ulwazi olubalulekile mayelana nendlela i-retina yakho esebenza ngayo.
• I-Optical Coherence Tomography (OCT): Lokhu futhi kuyindlela yokuhlola engenabuhlungu, engahlaseli. Kufana nokuskena ingaphakathi leso lakho. Kusebenzisa imisebe yokukhanya ekhethekile ukuthatha izithombe ezihlanganisa ingaphakathi leso lakho, ikakhulukazi i-retina ne-choroid. Lokhu kungabonisa ngokucacile ubukhulu balezi zingqimba kanye nanoma yimuphi umonakalo okungenzeka ukuthi ubangelwe yizo.
• I-Fluorescein Angiography: Kulolu vivinyo, kufakwa idayi ekhethekile emthanjeni ongalweni yakho. Njengoba idayi ihamba ngemithambo yegazi esesweni lakho, ikhamera ekhethekile ithatha izithombe zengaphakathi leso lakho. Lokhu kungasiza ekuboneni isimo semithambo yegazi ku-choroid kanye ne-retina, njengokuthi yonakele noma iyopha yini.
• Ukuhlolwa kwezakhi zofuzo: Lena yindlela ethembeke kakhulu yokuhlukanisa phakathi kwe-Choroideremia nezinye izifo ezinezimpawu ezifanayo, njenge-Retinitis Pigmentosa. Lokhu kuhilela ukuthatha isampula yegazi lakho, izinwele, isikhumba, izicubu, noma ngezinye izikhathi uketshezi lwe-amniotic oluvela enganeni yakho esibelethweni, bese uhlola izakhi zofuzo ezikuyo. Lokhu kungasiza ekunqumeni ukuthi une-mutation yini ku-gene ebangela i-Choroideremia.

Ingabe ikhona indlela yokwelapha i-Choroideremia?

Ngeshwa, ayikho ikhambi le-choroideremia. Lokhu kungakwenza uzizwe udangele, kodwa lokho kuvamile.

Nokho, lokho akusho ukuthi asinakwenza lutho. Ngisho noma lesi sifo singelapheki, singakwazi ukwelapha ezinye izinkinga ezibangelwa yilesi sifo. Isibonelo:

• Amasu okubona okuphansi: Njengoba ukubona kuncipha kancane kancane, kunezindlela ezahlukahlukene ezingasiza ngemisebenzi yansuku zonke. Izibonelo zifaka phakathi izibuko zokukhulisa, amadivayisi okukhanyisa akhethekile, kanye namawashi okukhulumayo.
• Ukwelulekwa ngempilo yengqondo:Ukuphila nesifo esinjalo esingelapheki kungaba yinselele engqondweni, ngakho-ke kubaluleke kakhulu ukufuna usizo kudokotela wezifo zengqondo noma umeluleki.
• Ukwelulekwa ngokwezakhi zofuzo: Njengoba lesi kuyisifo sofuzo, ukwelulekwa ngokwezakhi zofuzo kuyasiza kakhulu ekwenzeni amanye amalungu omndeni aqaphele lokhu futhi aqonde ukuthi kungathinta kanjani izizukulwane ezizayo.

Luhlobo luni lwekusasa umuntu one-Choroideremia analo?

Ngokuvamile, umuntu one-choroideremia uzolahlekelwa umbono wakhe ongaphandle ngokuhamba kwesikhathi. Ekugcineni, kungase kusele umbono ophakathi kuphela. Ngemva kwalokho, abanye abantu bangase babe yizimpumputhe ngokuphelele. Lokhu kungahlukahluka kumuntu nomuntu. Abanye abantu balahlekelwa umbono wabo ngokuhamba kwesikhathi, kanti abanye balahlekelwa umbono wabo ngokuhamba kwesikhathi.

Ungadikibali ngalokhu. Isayensi yezokwelapha iyaqhubeka usuku nosuku. Ucwaningo olusha kanye nokwelashwa okusha kuhlala kufunwa.

Ngizinakekela kanjani?

Ngisho noma uke watholakala une-choroideremia, kunezinto ongazenza ukuze uzinakekele kahle. Ukugcina indlela yokuphila enempilo kubaluleke kakhulu, ngisho noma unalesi simo.

• Yidla ukudla okunempilo okunempilo. Yidla imifino eluhlaza, izithelo, kanye nenyama engenamafutha amaningi. Nciphisa usawoti omningi, ushukela, namafutha angenampilo ngangokunokwenzeka.
• Zivocavoce ngokwanele. Ngisho nento elula njengokuhamba nsuku zonke ilungile.
• Uma ubhema, yeka. Ukubhema akukubi emehlweni akho kuphela, kodwa nakuwo wonke umzimba wakho.
• Bona udokotela wakho wamehlo njalo ukuze ahlolwe amehlo akho. Ngaleyo ndlela, ungafunda ngesimo sesimo sakho kanye nokwelashwa okusha.
• Lala ngokwanele.

Kufanele ngimbone nini udokotela?

Uma ubona noma yiziphi izinguquko embonweni wakho, njengokuncipha kombono wasebusuku, ukwehla kombono ongaphandle, noma ukubona okufiphele, bona udokotela ngokushesha. Ikakhulukazi uma ubhekana noshintsho oluzumayo embonweni noma ebuhlungu bamehlo, lokhu kungaba yisimo esiphuthumayo sezokwelapha.

Futhi, uma ukuthola kunzima ukwenza imisebenzi yakho yansuku zonke, khuluma nodokotela wakho ngalokho futhi. Kungaba ngumqondo omuhle ukubuza ukuthi uyafaneleka yini ukubamba iqhaza ezintweni ezifana nokuhlolwa kokwelashwa ngezakhi zofuzo .

Uyini umehluko phakathi kwe-Choroideremia kanye ne-Gyrate Atrophy ye-Choroid kanye ne-Retina?

Zombili lezi zifo ziyizimo zofuzo. Izimpawu zingase zifane. Kodwa-ke, kunomehluko ocacile phakathi kwazo zombili.

• Iphethini yefa: I-Choroideremia yisifo esixhumene ne-X. Lokhu kusho ukuthi sizuzwa nge-chromosome ye-X. I-Gyrate Atrophy ye-Choroid ne-Retina yisifo esibangelwa yi-autosomal recessive . Lokhu kusho ukuthi ukuze lesi sifo sibe khona, ingane kumele izuze ifa lofuzo olunephutha kumama nakubaba.
• Izakhi zofuzo eziguquliwe: Ukuguqulwa kwezakhi zofuzo okubangela zombili lezi zifo nakho kuhlukile.

Izinto ezibaluleke kakhulu okudingeka sizifunde kulokhu (Umyalezo Ohamba Nawo Ekhaya)

Kuyiqiniso ukuthi i-choroideremia iyisifo esingavamile, esingelapheki esingaholela kancane kancane ekulahlekelweni umbono ngisho nokungaboni. Kuvamile ukuba nemizwa exubile uma uthola ukuthi unesifo esinjalo.

Kodwa khumbula, awuwedwa. Gcina ubuhlobo obuqinile nethimba lakho lezokwelapha. Bakhona ukukusekela. Ucwaningo luyaqhubeka ukuthola ukwelashwa kanye nokwelashwa kwe-choroideremia, kanye nezinye izifo zofuzo. Futhi, sekukhona izinsiza kanye nezinsizakalo ezingakusiza ngezidingo zakho. Ukwamukela usizo lwabanye kungenza impilo yakho ibe lula kancane.

Hlala unethemba. Ngokuthuthuka kwesayensi yezokwelapha, kungase kuvele izindlela ezintsha zokwelapha esikhathini esizayo.

I- Choroideremia, isifo samehlo, ukulahlekelwa umbono, isifo sofuzo, ubumpumputhe basebusuku, i-retina, i-choroid, i-X-linked, ukuhlolwa kofuzo, ubumpumputhe