Ingabe wena noma othile omaziyo, ikakhulukazi kusukela ebuntwaneni, niye nabhekana nanoma yiziphi izinguquko embonweni wakho, njengokubona okufiphele, noma ukuzwela ukukhanya? Noma ingabe ukuthole kunzima ukuhlukanisa imibala? Ngezinye izikhathi lezi zinto zingaba lula. Namuhla sizokhuluma ngesifo samehlo esingavamile esidinga ukunakwa okuncane, kodwa abantu abaningi abasazi ngaso. Lokhu kubizwa ngokuthi `(Cone-Rod Dystrophy)` noma `(CRD)`.

Kuyini i-Cone-Rod Dystrophy?

Kalula nje, `(Cone-Rod Dystrophy)` yisifo esithinta ingxenye ye -retina engaphakathi kwamehlo ethu. Okwenzekayo kulokhu ukuthi ukubona kwethu kancane kancane, okungukuthi, kancane kancane, kuba buthaka. Kwezinye izimo, lokhu kungaholela ekulahlekelweni ngokuphelele kokubona ngisho nokungaboni . Leli iqiniso elidabukisayo.

Imbangela eyinhloko yalokhu kulahlekelwa umbono ukulimala kwezinhlobo ezimbili zamaseli azwela ukukhanya ku-retina yethu, abizwa ngokuthi ama-cone nama -rod . Uma sikhuluma iqiniso, la maseli ayafa kancane kancane. Igama elithi ``Dystrophy'' ku-``Cone-Rod Dystrophy'' lisho ukuthi la maseli ayawohloka kancane kancane.

Cabanga nje, uma iso lethu lifana nekhamera, la maseli e-cone `(Ama-Cone)`` kanye namaseli e-rod `(Ama-Rod)`` afana namachashazi amancane ku-`(ifilimu)`` yaleyo khamera. Yiwo athwebula ukukhanya, aqaphele umbala, adale izithombe, futhi azithumele ebuchosheni bethu.

• Amakhoni: Lawa amaseli asisiza sibone imibala , futhi ahlinzeka nangokubona okucacile (ikakhulukazi uma sibheka phambili) .
• Izinduku: Lezi zisisiza sibone ebumnyameni nasembonweni ongaphandle, okungukuthi, izinto ezingekho phambi kwethu ngqo .

Ku-CRD, amaseli ekhoni ngokuvamile awona okuqala ukulimala, kodwa ngezinye izikhathi zombili izinhlobo zamaseli zingonakala ngesikhathi esisodwa.

Lesi simo, esibizwa ngokuthi ``(CRD)``, asivamile kakhulu , okusho ukuthi akusona isifo esithinta wonke umuntu. Futhi, sivame ukuba yizakhi zofuzo , okusho ukuthi kuyinto edluliselwa esizukulwaneni kuya kwesinye. Lesi sifo sivame ukuqala ebuntwaneni noma ebudaleni .

Uyazi ukuthi ziyini izimpawu zalokhu?

Nakuba izimpawu ze-CRD zingahluka kancane kumuntu nomuntu, kunezinye izimpawu ezivamile ezingabonakala. Lezi zivame ukwanda ngokuhamba kwesikhathi.

• Ubuthakathaka engxenyeni ephakathi yeso: Lokhu kuvame ukuba uphawu lokuqala olubonakalayo. Ngokuvamile luqala ebuntwaneni. Uma sikhuluma iqiniso, kubonakala sengathi okubonwayo ngqo akubonakali kahle.
• Ukwesaba ukukhanya: Ukuzizwa uzwela kakhulu ekukhanyeni okukhanyayo: Kunzima ukubona lapho ilanga noma izibani zicimile, njengokungathi amehlo aphenduka abe luhlaza okwesibhakabhaka.
• Ubunzima bokuhlukanisa imibala: Ngokuhamba kwesikhathi, imibala ingase ingabonakali kakhulu futhi ingase iholele ekungabonini imibala ngokuphelele .
• Ubumpumputhe basebusuku (i-Nyctalopia): Ukubona kuba kubi kakhulu ebusuku ezindaweni ezikhanya kancane.
• Ukulahlekelwa umbono ongaphandle: Akukhona nje ukuthi umbono owubonayo uqonde phambili uyancipha kancane kancane, kodwa lokho okubonayo ohlangothini ngalunye lweso lakho nakho kuncipha kancane kancane.
• Ukulahlekelwa umbono ngokuphelele (ubumpumputhe): Lesi yisigaba esibi kakhulu salesi sifo.

Lezi zimpawu aziveli ngokuzumayo. Zikhula kancane kancane. Ngakho-ke ngezinye izikhathi, ekuqaleni, ungase ucabange ukuthi akuyona into enkulu.

Kungani lokhu kwenzeka? Yiziphi izizathu?

Njengoba sesishilo ngaphambili, `(CRD)` ikakhulukazi isifo esibangelwa izakhi zofuzo . Okusho ukuthi, sibangelwa izinguquko ezithile (ukuguqulwa kwezakhi zofuzo) ezenzeka ku-`(DNA)` yethu . Cabanga ngakho, `(DNA)` iyipulani yomzimba wethu. Uma kukhona iphutha elincane kulolo pulani, lingabangela izimo ezinjengalezi.

Ucwaningo luthole ukuthi kunezinhlobo okungenani ezingu-28 zofuzo ezingabangela lokhu `(CRD)`. Kunezindlela eziningana esingazuza ngazo lezi zinhlobo zofuzo:

• `(I-Autosomal dominant)`: Kulesi simo, lesi sifo singavela noma ngabe i-gene enephutha izuzwe njengomzali oyedwa kuphela , kungaba umama noma ubaba.
• `(I-Autosomal recessive)`: Kule ndlela, lesi sifo senzeka kuphela uma i-gene enephutha izuzwe njengefa kubazali bobabili . Uma ivela kumzali oyedwa kuphela, lowo muntu angaba ngumthwali walesi sifo, kodwa ngeke abonise izimpawu.
• `(X-linked)`: Lokhu kubangelwa yi-gene exhunywe kwi-chromosome X. Ingozi incike ekutheni yimuphi umzali one-gene enephutha.

Izinguquko ezine zofuzo okungenzeka kakhulu zibangele i-Cone-Rod Dystrophy yilezi:

• `(ABCA4)`
• `(CRX)`
• `(GUCY2D)`
• `(RPGR)`

Nakuba lezi ziyinkimbinkimbi kancane kwezokwelapha, lezi zakhi zofuzo yizo ezisiza amaseli e-cone kanye nezinduku emehlweni ethu ukuthi asebenze kahle. Ngakho-ke uma kunenkinga ngalezi zakhi zofuzo, ukusebenza kwalawo maseli kuyaphazamiseka.

Uyithola kanjani ngokunembile lesi sifo? (Ukuxilongwa)

Uma wena noma ingane yakho ninayo noma iyiphi yalezi zimpawu, kufanele nakanjani nibone uchwepheshe wokunakekelwa kwamehlo . Angakutshela ngokuqinisekile ukuthi lokhu kuyi-CRD noma esinye isifo samehlo.

Usebenzisa izindlela eziningana zokuxilonga izifo:

1. Buza ngomlando wakho wezokwelapha kanye nezimpawu: izinto ezifana noshintsho embonweni wakho nokuthi ngabe kukhona yini emndenini wakho oke waba nezinkinga ezifanayo.

2. Ukuhlolwa kwamehlo okuphelele kwenziwa: Lokhu kungafaka uchungechunge lwezivivinyo.

• Ukuhlolwa kokubona kahle:Ukuvumela abantu bafunde izincwadi nokubona ukuthi bangabona kude kangakanani.
• Ukuhlolwa kokubona imibala: Ukuhlola ukuthi ungakwazi yini ukuhlukanisa imibala ngendlela efanele.
• Ukuhlolwa kwesibani esinqunyiwe: Ukubheka ngaphakathi kweso ngethuluzi elikhethekile lokukhulisa.

Nakuba lezi zivivinyo zibalulekile, isivivinyo esibaluleke kakhulu nesiqondile sokuqinisekisa i-Cone-Rod Dystrophy yi-Electroretinography. Lokhu ukuhlolwa okukhethekile ngandlela thile. Kulinganisa ngqo umsebenzi kagesi we-retina. Uma i-CRD ikhona, lesi sivivinyo singabona amaphethini athile omsebenzi (noma ukuntuleka komsebenzi).

Ngaphezu kwalokho, udokotela wakho wamehlo angancoma ukuhlolwa kwezakhi zofuzo . Lokhu kwenzelwa ukubona ukuthi une-gene mutation eyaziwa ngokuthi ibangela i-CRD. Lokhu kubaluleke kakhulu uma othile emndenini wakho oseduze (umama, ubaba, izingane zakini, izingane) ene-CRD, noma uma unengozi yokudlulisela lesi sifo ezinganeni zakho.

Yiziphi izindlela zokwelapha lokhu? Ingabe kungelapheka?

O, uma ngikhuluma iqiniso, okwamanje alikho ikhambi lalesi sifo `(Cone-Rod Dystrophy)`. Lena yinto edabukisa kakhulu.

Kodwa-ke, asikho isidingo sokulahla ithemba ngokuphelele. Indlela yamanje iwukunciphisa ukuqhubeka kwesifo nokwelapha noma yiziphi izimpawu nezinkinga ezivelayo. Udokotela wakho wamehlo angakusiza ngalokhu. Lokhu kungafaka:

• Ukuvikelwa kokukhanya: Ukusebenzisa izibuko zelanga, izibuko zamehlo ezinombala, noma ama-contact lens kungasiza ekunciphiseni ingozi yokulimala kwamangqamuzana e-retinal ngenxa yokuchayeka ekukhanyeni.
• Ukulungiswa kokubona: Ezigabeni zokuqala zesifo, izibuko zinganikeza impumuzo ethile ekuboneni okunciphile.
• Izinsiza zokubona okuphansi: Lawa amadivayisi asiza abantu abangaboni kahle ukuthi benze imisebenzi yansuku zonke. Asukela ezingilazini ezilula zokukhulisa kuya kumadivayisi obuchwepheshe obuphezulu njengezinhlelo zekhompyutha ezifunda isikrini.
• Ukuvuselelwa kokubona: Lolu uhlobo olukhethekile lokuqeqeshwa olukufundisa indlela yokubhekana nokwenza imisebenzi yansuku zonke lapho ulahlekelwe umbono.
• Izithako zokudla okunempilo: Kukhona inkolelo yokuthi amavithamini namaminerali athile (ama-micronutrients) anganciphisa ijubane lokuqhubeka kwe-CRD. Kodwa-ke, lokhu kufanele kuthathwe kuphela ngaphansi kweseluleko sikadokotela . Udokotela wakho wamehlo uzokutshela ukuthi yiziphi ezinhle nezimbi.
• Ukusekelwa kwempilo yengqondo:Ukulahlekelwa ukubona kungaba yinto ecindezelayo kakhulu futhi eyethusayo . Abantu abaningi abane-CRD bangaba nezimpawu ezifana nokukhathazeka noma ukucindezeleka. Ngakho-ke, ukufuna ukwelulekwa kwengqondo nokusekelwa kungaba usizo olukhulu ekubhekaneni nale mizwa nokubhekana nayo.

Ingabe kuzoba khona ukwelashwa okusha esikhathini esizayo? (Ucwaningo)

Abacwaningi okwamanje baphenya ukuthi ngabe izindlela zokwelapha izakhi zofuzo zingasetshenziswa yini ukwelapha i-Cone-Rod Dystrophy. Okusho ukuthi, izindlela ezingalungisa izakhi zofuzo ezinephutha esikhulume ngazo.

Kodwa-ke, lezi zindlela zokwelapha zisesezigabeni zokuqala zenqubo yocwaningo . Lokhu kusho ukuthi kuzothatha okungenani iminyaka embalwa ngaphambi kokuba sithole lezi zindlela zokwelapha. Futhi, zizokhishwa kuphela uma lezo zifundo ziqinisekisa ukuthi lezi zindlela zokwelapha ziphephile futhi ziyasebenza .

Ngakho-ke, nakuba kunzima ukuba nethemba elikhulu ngalezi zindlela zokwelapha okwamanje, kubalulekile ukukhumbula ukuthi lokhu kungase kunikeze impumuzo ethile kubantu abane-CRD esikhathini esizayo .

Yini eyenzeka kumuntu one-cone-rod dystrophy (CRD)?

Imiphumela ye-CRD ivame ukuqala ebuntwaneni . Izingane ezine-CRD zingase zibe nezinkinga zokubona ngaphambi kokuba zibe neminyaka eyi-10. Ngakho-ke, ngezinye izikhathi othisha besikole yibona abaqala ukubona ushintsho embonweni wengane.

Iningi labantu abane-CRD liba nokulahlekelwa ukubona kuze kube yilapho sebeyimpumputhe ngokomthetho lapho beneminyaka engu-20. Kodwa-ke, kwabanye abantu, lesi sifo siqhubeka kancane, noma umonakalo awubi mkhulu kangako, futhi lesi simo singase singabi khona kuze kube yilapho beneminyaka engu-30 noma engu-40 .

Iyini ikusasa lalesi simo?

`(CRD)` akusona isifo esisongela ukuphila . Lokho kusho ukuthi asibulali. Kodwa-ke, yisifo esibangela ukuphazamiseka okukhulu empilweni futhi ekugcineni siholela ekukhubazekeni .

Kodwa ungafunda ukuphila nokulahlekelwa ukubona , ikakhulukazi ngosizo lodokotela, izinsizakalo zokusekela, kanye nezinye izinsiza.

Into ebaluleke kakhulu ukuqonda ukuthi awuwedwa. Ungesabi ukucela usizo.

Ingabe ikhona indlela yokuvimbela lokhu?

Njengoba sishilo ngaphambili, i-`(Cone-Rod Dystrophy)` yisifo esibangelwa kakhulu ukuguquka kwezakhi zofuzo . Ngakho-ke, ngokusekelwe olwazini lwamanje, ayikho indlela yokuvimbela lesi sifo '(CRD)' noma ukunciphisa ingozi yokusithola . Abacwaningi basabheka ukuthi ngabe zikhona yini ezinye izimbangela noma izici ezisithintayo.

Uma ngine-CRD, ngizinakekela kanjani?

Uma une-`(CRD)`, kubaluleke kakhulu ukubona udokotela wakho wamehlo njalo ukuze ahlolwe amehlo.Ngemuva kwalokho angaqapha izinguquko emehlweni akho, alungise ukwelashwa kwakho ngokufanele, futhi akunike ulwazi olusha.

Udokotela wakho wamehlo kanye nabanye abahlinzeki bezempilo bangakusiza ukuthi uphile ne-CRD. Bangakusiza ukuthi uzivumelanise nayo futhi ulungiselele ikusasa. Bangakugcina unolwazi mayelana nokwelashwa okusha futhi bakunikeze ulwazi.

Yini okufanele ngiyibuze udokotela/nkosikazi?

Uma ubona udokotela, kuzokusiza ukubuza imibuzo efana nale:

• Umbono wami unciphe kangakanani?
• Lesi sifo `(CRD)` sizoqhubeka kanjani? Ungacabanga ukuthi kuzothatha isikhathi esingakanani?
• Ingabe mina nomndeni wami kufanele sihlolwe izakhi zofuzo ukuze sithole ukuthi yikuphi ngempela ukuguquka kwe-DNA okubangele lokhu?
• Yini engingayenza manje ukuze nginciphise ukuqhubeka kwalesi sifo?
• Ingabe zikhona izinhlelo noma izinsiza engingazisebenzisa ukungisiza ngizivumelanise nezinguquko zamanje futhi ngilungiselele izinguquko zesikhathi esizayo?

Uma ulahlekelwa umbono wakho ngenxa ye-Cone-Rod Dystrophy, ungase uzizwe uhlukanisiwe futhi unesizungu emhlabeni nakwabanye abantu. Kuvamile ukuzizwa ukhathazekile futhi ukhathazekile ngalokho okuzoshintsha esikhathini esizayo.

Kodwa-ke, lesi akusona isimo okufanele ubhekane naso wedwa . Udokotela wakho wamehlo, abanye odokotela, kanye nochwepheshe bazokunikeza ukunakekelwa, ukwesekwa, isiqondiso, kanye nezinsiza ozidingayo. Ungesabi ukubacela usizo. Bazokusiza ukuthi uvumelane futhi ubhekane nomthelela wokulahlekelwa umbono.

Ekugcineni, umyalezo okufanele uwuthathe uye ekhaya:

I-Cone-Rod Dystrophy (CRD) yisifo samehlo esisongela impilo lapho amangqamuzana asemehlweni ethu abizwa ngokuthi ama-cone nama-rod ewohloka khona, okubangela kancane kancane ukulahlekelwa umbono. Ngokuvamile kuyizakhi zofuzo futhi kungaqala ebuntwaneni.

Nakuba okwamanje kungekho ikhambi, kunezindlela eziningi zokuphatha izimpawu, ukunciphisa ukuqhubeka kwesifo, kanye nokukusiza uphile nokulahlekelwa umbono.

Uma wena noma othile omaziyo enalezi zimpawu, bonana nochwepheshe wamehlo ngokushesha . Kubaluleke kakhulu ukuthola ukuxilongwa okunembile kanye nesiqondiso.

Khumbula, awuwedwa. Thola ukwesekwa nosizo oludingayo. Ukuhlala unethemba nakho kubaluleke kakhulu!

i- cone-rod dystrophy, i-CRD, ukulahleka kokubona, i-retina, amaseli e-cone, amaseli e-rod, izifo zofuzo, izifo zamehlo