Namuhla sizokhuluma ngesifo esingcono kakhulu, esithinta ukubona!

Ingabe wena noma ingane yakho niqale ukubona ushintsho oluncane endleleni enibona ngayo izinto ngqo phambili, ukufiphala kombono? Noma mhlawumbe udokotela wamehlo utshele wena noma othile emndenini wakho ngaleli gama elithi 'Isifo Esingcono Kakhulu'? Empeleni lesi yisimo esingavamile, kodwa esingokofuzo esingathinta womabili amehlo. Ngakho-ke namuhla, ake sixoxe ngamagama alula ngokuthi siyini lesi sifo Esingcono Kakhulu, ukuthi sikhula kanjani, yiziphi izimpawu, nokuthi kukhona yini ukwelashwa.

Yisiphi lesi sifo esingcono kakhulu?

Kalula nje, isifo sikaBest siyisimo sofuzo esithinta i-retina yamehlo akho. Amehlo ethu afana nekhamera. I-retina ungqimba olungemuva kweso olusisiza sibone izithombe lapho ukukhanya kushaya. Ingxenye ye-retina ephakathi kwe-retina esisiza sibone izinto ngqo phambili ibizwa ngokuthi i-macula. Ngakho-ke, esifweni sikaBest, i-macula iba buthaka kancane kancane. Lokhu kungenza kube nzima ukubona izinto ngqo phambili, njengezinhlamvu nobuso babantu, ngokucacile. Kodwa isikhathi esiningi , umbono ongaphandle, noma ukubona izinto ezikuzungezile, akuthinteki kakhulu.

Lesi sifo esihle kakhulu sibizwa ngamanye amagama. Ngezinye izikhathi odokotela bangase basibize ngokuthi `i-vitelliform macular dystrophy` noma `i-vitelliform dystrophy`. `I-Dystrophy` yigama lezokwelapha elisho ukuwohloka noma ubuthakathaka besitho esithile.

Kukhona esinye isimo esifana nalesi, esiwuhlobo lwe-'vitelliform macular dystrophy'. Kodwa-ke, asiqali ebuntwaneni, kodwa siqala njengoba ukhula, ngokuvamile phakathi kweminyaka engama-40 nengama-60. Sibizwa ngokuthi 'uhlobo lokuqala kwabantu abadala'.

Sivame kangakanani isifo i-Best?

Kunzima ukuthola izibalo eziqondile zokuthi bangaki abantu abanesifo sikaBest. Abanye abantu abazi nokuthi banaso ngoba abanazo izimpawu. Ucwaningo olulodwa luthi cishe oyedwa kubantu abayi-16,500, noma cishe oyedwa kwabayi-21,000, angaba naso. Olunye ucwaningo luthi cishe oyedwa kwabayi-15,000 . Olunye luthi kungenzeka ukuthi oyedwa kwabayi-10,000 . Kodwa-ke, singaqonda ukuthi lesi yisifo esingavamile .

Yiziphi izigaba zesifo esingcono kakhulu?

Lesi sifo esingcono kakhulu singadlula ezigabeni eziyisithupha eziyinhloko. Ake sibone ukuthi ziyini.

1. Isigaba I - Isigaba se-Previtelliform:

Lesi yisiqalo nje. Esikhathini esiningi, ngeke ube nezimpawu kulesi sigaba.Into ephuzi ayikaqali ukwakheka ngaphansi kwe-retina yakho. Lokhu kungatholakala ngengozi ngesikhathi sokuhlolwa kwamehlo.

2. Isigaba II - Isigaba se-Vitelliform:

Igama elithi `vitelliform` lisho ``okweqanda``. Kulesi sigaba, into ephuzi iqala ukuqongelela ngaphansi kwe-retina yakho, endaweni ye-``macula``, isikhungo sokubona kwakho. Cabanga ngayo njengeqanda elincane eliphuzi. Umbono wakho ungase ube muhle kulesi sigaba.

3. Isigaba III - Isigaba se-pseudohypopyon:

Kulesi sigaba, into ephuzi ingaba uketshezi bese yakha i-cyst ngaphansi kwe-retina. Lokhu kufana ne-blister encane egcwele uketshezi ngaphakathi kweso.

4. Isigaba IV - Isigaba sokuqaqamba kwemisipha:

Yilapho izinto eziphuzi ezazivame ukuqongelela ziqala khona ukuwohloka nokuhlakazeka. Njengoba lezi zinto ziwohloka, amaseli aku-retina angonakala. Kuleli qophelo, ungase uqale ukubona izinguquko embonweni wakho, njengokubona okufiphele.

5. Isigaba V - Isigaba sokuwohloka:

Kulesi sigaba, into ephuzi isuke isiphelile cishe ngokuphelele. Kodwa izibazi namaseli alimele ahlala lapho ayekhona. Lo monakalo ungalimaza kakhulu umbono. Abanye abacwaningi babheka lesi njengesigaba sokugcina sesifo sikaBest.

6. Isigaba VI - Ukuthuthukiswa kwemithambo yegazi ye-Choroidal (CNV):

Abanye abacwaningi babheka lesi simo esibizwa ngokuthi 'i-CNV' njengesigaba sokugcina sesifo i-Best. Abanye bacabanga ukuthi kuyinkinga yalesi sifo. Cishe abantu abangu-20% abane-Best disease bangase babe nalesi simo. 'I-Neovascularization' ukwakheka kwemithambo yegazi emisha. 'I-Choroid' iyi-membrane phakathi kwe-'retina' kanye ne-'sclera' yeso. Kulesi simo se-'CNV', imithambo yegazi emisha nebuthakathaka yakha ungqimba lwe-'choroid'. Le mithambo yegazi emisha ibuthakathaka kangangokuthi ingavuza igazi noma uketshezi. Uma lokhu kwenzeka, umbono wakho ungaba mubi kakhulu.

Ziyini izimpawu zesifo sikaBest?

Esikhathini esiningi, uzothola ulwazi ngesifo sikaBest kuphela ngemva kokuhlolwa kwamehlo, ngoba ngezinye izikhathi azikho izimpawu ezibonakalayo. Kodwa uma kuvela izimpawu, zingase zihlanganise:

• Umbono ofiphele: Izinto ezibonakala ziqondile zingase zibonakale zingacacile noma zingacacile.
• Izinkinga ngokubona okuqondile: Inkinga ukubona izinto ngqo phambi kwakho. Kodwa ungase ube nombono omuhle ohlangothini, noma umbono ongaphandle.
• Ukubona izinto zishintsha isimo (i-Metamorphopsia):Cabanga nje, ubheka umugqa oqondile, kodwa ubonakala kuwe njengomugqa ogobile, odwetshiwe. Ungase ubone izinto ezifana nezibambo zomnyango kanye nohlaka lwamafasitela njengoba zidwetshiwe. Lokhu kubizwa ngokuthi 'i-metamorphopsia'.
• Ukulahlekelwa umbono okukhulu: Abanye abantu bangase balahlekelwe umbono omkhulu ngokuhamba kwesikhathi.
• Umehluko ekuboneni phakathi kwamehlo amabili: Ukubona kwelinye iso kungase kube ngaphansi kunelinye. Noma umbono kuwo womabili amehlo ungase ungehli ngokulinganayo, kodwa ungase wehle ngamazinga ahlukene.

Iyini imbangela yesifo i-Best?

Isifo sikaBest sibangelwa yisimo sofuzo. Kalula nje, sibangelwa ushintsho ezizakhini zofuzo esizizuza kubazali bethu.

Isifo sikaBest siyisimo "esibizwa ngokuthi yi-autosomal dominant". Leli igama lezokwelapha kancane, kodwa kulula ukuliqonda. "I-Autosomal dominant" isho ukuthi ingane akudingeki izuze ifa le-gene eguquliwe kubazali bobabili, kodwa ingomunye kuphela. Lokho kusho ukuthi uma noma yimuphi umzali ene-gene eguquliwe, izingane zakhe zinethuba elingama-50% lokuthola lesi sifo. Kufana nokuphonsa uhlamvu lwemali bese ushaya amakhanda.

Ngokumangalisayo, i-gene efanayo ebangela isifo sikaBest ibangela nezinye izinhlobo zesifo samehlo esizuzwe njengefa esibizwa ngokuthi i-retinitis pigmentosa. Lokhu kusho ukuthi ukuhlukahluka kwalesi gene kungabangela izifo zamehlo ezahlukahlukene.

Isifo sikaBest sitholakala kanjani?

Esikhathini esiningi, udokotela uzoxilonga isifo sikaBest uma uneminyaka ephakathi kwemihlanu neyishumi, noma okungenani uma uneminyaka engama-20 ubudala.

Uma uvakashela uchwepheshe wokunakekelwa kwamehlo ngenxa yenkinga yamehlo, bazoqala bakubuze ngomlando wakho wezokwelapha, babuze ukuthi kukhona yini emndenini wakho onezinkinga zamehlo, bese benza ukuhlolwa kwamehlo. Ngaphezu kwalokho, bangenza nokuhlolwa okukhethekile. Isibonelo:

• I-Fluorescein angiography: Lokhu ukuhlolwa kwezithombe. Idayi ekhethekile ifakwa emthanjeni ongalweni yakho bese kuthathwa izithombe zemithambo yegazi engaphakathi kweso lakho. Lokhu kungasiza ekuboneni ukuthi kukhona yini ukuvuza noma ukukhubazeka emithanjeni yegazi.
• I-Optical coherence tomography (OCT): Lokhu futhi kuyindlela yokuhlola izithombe engahlaseli. Isebenzisa imisebe yokukhanya ukuthatha izithombe ezinqamula ingxenye yangemuva kweso lakho, ikakhulukazi i-retina kanye ne-macula. Kufana nokusika ikhekhe bese ubheka ngaphakathi. Ingathola izinto ezifana nobukhulu bezingqimba ze-retina, noma yikuphi ukuvuvukala, kanye nokunqwabelana koketshezi.
• Izithombe ze-fundus ezinombala: Lokhu kuthatha izithombe ezicacile ze-retina yakho, imithambo yegazi ehambisana nayo, kanye nekhanda le-optic nerve. Lokhu kungakusiza ukuthi ubone ukuthi kukhona yini ama-deposit afana neqanda eliphuzi.
• I-electrophysiology yamehlo: Empeleni lolu uchungechunge lwezivivinyo. Lezi zivivinyo zilinganisa umsebenzi kagesi ongabonakali owenzeka lapho amehlo ethu esabela ekukhanyeni. Lokhu kunganikeza umbono wokuthi amaseli aku-retina asebenza kahle kangakanani.
• Ukuhlolwa kofuzo: Lokhu kuhlolwa kungaqinisekisa ngokuqiniseka ukuthi kukhona yini izinguquko ezakhiweni zakho zofuzo ezihlobene nesifo se-Best.

Ngezinye izikhathi udokotela angase afune ukukhuluma namanye amalungu omndeni wakho noma ngisho nokuhlola amehlo awo, njengoba lokhu kuyisimo sofuzo.

Isifo sikaBest siphathwa kanjani?

Kuze kube namuhla, alikho ikhambi lesifo sikaBest. Yilokho okufanele sikuqonde kuqala.

Ukuphatha lesi sifo kangcono ngokusekelwe ezimpawini zakho kanye nesigaba salesi sifo. Uma usutholakele, kubalulekile ukuthi uhlolwe amehlo njalo. Kulapho-ke kuphela lapho ungasheshe ubone khona noma yiziphi izinguquko emehlweni akho bese uthatha izinyathelo ezidingekayo.

Ezigabeni zokuqala, ungase ungadingi ukwelashwa. Kodwa-ke, uma unezinye izinkinga zokubona izinto kude, njengokubona kude, kungadingeka usebenzise izibuko. Abantu abanesifo sikaBest bavame ukuba nezinkinga zokubona kude. Futhi, uma uba ne-cataract, kungadingeka ukuthi uhlinzwe i-cataract.

Kodwa uma unesifo esikhulume ngaso ngaphambilini esibizwa ngokuthi i-choroidal neovascularization (CNV), okuwukwakheka kwemithambo yegazi emisha ebuthakathaka, udokotela wakho angase asikisele ukwelashwa okufana nalokhu ukuze kumiswe ukukhula kwaleyo mithambo yegazi emisha:

• Izinto ezilwa nokukhula kwe-endothelial endothelial (Anti-VEGF): Empeleni lezi imithi. Le mithi ifakwa emgodini we-vitreous ongaphakathi kweso lakho. Umgomo uwukumisa ukukhula kwaleyo mithambo yegazi emisha, evuzayo bese uyinciphisa.
• Ukwelashwa nge-laser: Lokhu kwelashwa kusebenzisa imisebe ye-laser ukuvala noma ukubhubhisa imithambo yegazi engajwayelekile.
• Ukwelashwa nge-Photodynamic (PDT): Lokhu kuyindlela yokwelapha eyinkimbinkimbi kancane. Lapha, kufakwa umuthi okhethekile emzimbeni wakho, bese umuthi wenziwa ube nomuzwa wokukhanya, bese kuthi umsebe we-laser uqondiswe emithanjeni yegazi ethintekile, uyilimaze futhi uyivimbele ekuphumeni kwegazi.

Ngaphezu kwalokho, udokotela wakho angase asikisele ukuthi usebenzise izinsiza-kusebenza zokungaboni kahle, njengemishini yokukhulisa, ukukhanya okukhethekile, kanye nesofthiwe elula ukuyifunda.

Abacwaningi sebevele baphenya ukuthi ngabe izinto zofuzo zingasetshenziswa yini ukwelapha noma ukuvimbela lesi sifo. Ukwelashwa ngofuzo kusesesigabeni sokucwaninga, kodwa kunethemba lokuthi kuzoletha imiphumela ephumelelayo esikhathini esizayo.

Ingabe ingozi yokuthola isifo esingcono kakhulu ingancishiswa?

Ngempela, akukho ongakwenza ukuvimbela isifo sikaBest. Kuyisifo sofuzo. Kodwa uma othile emndenini wakho enesifo sikaBest, noma uma uthola ukuthi unaso, kungabaluleka ukuthola ukwelulekwa ngofuzo ngaphambi kokuba ube nezingane. Umeluleki wezakhi zofuzo angabheka umlando womndeni wakho futhi achaze ingozi yokuthi izingane zakho zizuze lesi sifo njengefa.

Kwenzekani uma nginesifo esihle kakhulu?

Isifo sikaBest asisona isifo esibulalayo. Lokho kusho ukuthi asisongeli impilo. Kodwa, njengoba kushiwo ngaphambili, asilapheki. Ngeke ube yimpumputhe ngokuphelele ngenxa yesifo sikaBest. Kodwa ungase ube nokungaboni kahle. Lokho kusho ukuthi kungaba nzima kancane ukwenza imisebenzi yansuku zonke, kodwa ngeke ulahlekelwe ukubona kwakho ngokuphelele.

Ngizinakekela kanjani?

Kukhona ukudla okuhle empilweni yamehlo.

"Ukudla okuhle kubaluleke kakhulu emehlweni."

Isibonelo, ukudla izinhlanzi izinsuku ezimbalwa ngesonto, nokufaka imifino eluhlaza, izithelo, namantongomane ekudleni kwakho kuhle emehlweni akho. Lokhu kunikeza izakhamzimba ezinobungani namehlo njenge-omega-3 fatty acids namavithamini.

Uma unesifo sikaBest, kubalulekile ukuhlolwa njalo kwezokwelapha, ikakhulukazi ukuhlolwa kwamehlo. Uma ubona noma yiziphi izinguquko ekuboneni kwakho noma empilweni yakho jikelele, tshela udokotela wakho ngokushesha. Ungabuza nodokotela wakho imibuzo efana nale:

• " Ungangincoma umeluleki wezakhi zofuzo ukuze angisize nginqume ukuthi ngizoba nabantwana yini?"
• "Ingabe ngiyafaneleka ukubamba iqhaza esivivinyweni somtholampilo salesi sifo?"
• " Ungangincoma udokotela wamehlo ochwepheshe bokubona okuphansi?"
• " Ingabe ukwelashwa ngezakhi zofuzo kuyindlela yokwelapha kimi?"

Uyini umehluko phakathi kwesifo i-Best kanye nesifo i-Stargardt?

Isifo i-Stargardt kanye nesifo i-Best zombili ziyizifo zofuzo, futhi zombili zithinta isikhungo sokubona esweni (i-macula). Lokhu kusho ukuthi ukubona okuqondile kuyathinteka.

Kodwa lezi zifo ezimbili zibangelwa izinguquko ezakhiweni zofuzo ezahlukene.

Esifweni i-Stargardt, ungabona amabala aphuzi noma amhlophe ku-retina yakho. Kodwa ku-Best disease, ungabona i-cyst enkulu, ephuzi, efana neqanda elifana ne-yolk ngaphansi kwe-macula. Ngakho-ke, lezi zifo ezimbili zingahlukaniswa ngalezi zimpawu kanye nokuhlolwa kofuzo.

Ukuphila nesimo esisongela ukubona kungaba yinselele. Kodwa uma unesifo sikaBest, kunezinsiza eziningi nezinsizakalo ezingasiza ekwenzeni izinto zibe lula. Buza udokotela wakho ngazo.

Okokugcina, izinto okufanele uzikhumbule

Kulungile, ngakho-ke sesikhulume kakhulu ngesifo esingcono kakhulu. Ake sifingqe:

• Isifo sikaBest siyisifo esidluliselwa ngofuzo esithinta indawo ephakathi yokubona esweni (i-macula). Lokhu kungaholela ekulimaleni kwamehlo.
• Nakuba ingelapheki ngokuphelele, ayisongeli impilo. Ukubona okuphansi kungase kwenzeke, kodwa ubumpumputhe obuphelele abuveli.
• Kubaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi futhi kwenziwe izivivinyo zezokwelapha njalo.
• Kunezindlela zokwelapha izinkinga ezifana ne-'CNV'.
• Ukwelulekwa ngofuzo kuyinto engabaluleka kulabo abahlela umndeni.
• Ukudla ukudla okuhle emehlweni nokusebenzisa izinsiza zokungaboni kahle kungenza impilo ibe lula.

Khumbula, awuwedwa. Kukhona odokotela, abeluleki, kanye namasu angakusiza ukuthi uphile nalezi zimo. Into ebaluleke kakhulu ukuhlala uqinile futhi ulandele imiyalelo edingekayo. Uma unemibuzo noma ukungabaza, khuluma nodokotela wakho ngokukhululekile.

Isifo esingcono kakhulu, Isifo esingcono kakhulu, izifo zamehlo, isikhungo sokubona, i-macula, izifo zofuzo, ukulahlekelwa umbono, ukuhlolwa kwamehlo