Ngaba amehlo akho aya ewohloka kancinci kancinci? Masifunde ngale (Cone-Rod Dystrophy)!

Ngaba wena okanye umntu omaziyo, ingakumbi ukususela ebuntwaneni, nikhe nafumana naluphi na utshintsho ekuboneni kwenu, njengokubona okufipheleyo, okanye ukuva ukukhanya? Okanye ngaba nikhe nakufumanisa kunzima ukwahlula imibala? Ngamanye amaxesha ezi zinto zinokuba lula. Namhlanje siza kuthetha ngesifo samehlo esingaqhelekanga esifuna ingqalelo encinci, kodwa abantu abaninzi abasaziyo. Oku kubizwa ngokuba yi-`(Cone-Rod Dystrophy)` okanye `(CRD)`.

Yintoni iCone-Rod Dystrophy?

Ngamafutshane, `(Cone-Rod Dystrophy)` sisifo esichaphazela inxalenye ye -retina engaphakathi kwamehlo ethu. Okwenzekayo koku kukuba ukubona kwethu kuyehla kancinci kancinci, oko kukuthi, kancinci kancinci, kube buthathaka. Kwezinye iimeko, oku kunokukhokelela ekulahlekelweni ngokupheleleyo kokubona kwanokuba yimfama . Le yinyani ebuhlungu.

Eyona nto ibangela ukulahleka kokubona kukonakala kweentlobo ezimbini zeeseli ezibona ukukhanya kwi-retina yethu, ezibizwa ngokuba zii-cones kunye nee-rods . Ngokuchanekileyo, ezi seli ziyafa kancinci kancinci. Igama elithi ``Dystrophy'' kwi-``Cone-Rod Dystrophy'' lithetha ukuba ezi seli ziyawohloka kancinci kancinci.

Khawuthelekelele, ukuba iliso lethu lifana nekhamera, ezi cone cells `(Cones)`` kunye nee rod cells `(Rods)`` zifana namachaphaza amancinci kwi `(film)`` yaloo khamera. Zizo ezibamba ukukhanya, ziqaphele umbala, zenze imifanekiso, kwaye ziyithumele engqondweni yethu.

• Iikhowuni: Ezi ziiseli ezisinceda sibone imibala , kwaye zikwabonelela ngombono ocacileyo nocacileyo (ingakumbi xa sijonga phambili) .
• Iintonga: Ezi zisinceda sibone ebumnyameni nasembonweni ongaphandle, oko kukuthi, izinto ezingekho ngqo phambi kwethu.

Kwi-CRD, iiseli zekhoni zihlala zonakala kuqala, kodwa ngamanye amaxesha zombini iintlobo zeeseli zinokonakala ngaxeshanye.

Le meko, ebizwa ngokuba yi-``(CRD)``, ayiqhelekanga kakhulu , oko kuthetha ukuba ayisosifo esichaphazela wonke umntu. Kwakhona, idla ngokuba yimfuza , oko kuthetha ukuba yinto edluliselwa kwizizukulwana ngezizukulwana. Esi sifo sidla ngokuqala ebuntwaneni okanye ebudaleni .

Uyazi ukuba zithini iimpawu zale nto?

Nangona iimpawu ze-CRD zinokwahluka kancinci kumntu nomntu, kukho ezinye iimpawu eziqhelekileyo ezinokubonakala. Ezi zimpawu zihlala zisanda ngokuhamba kwexesha.

• Ubuthathaka kwindawo ephakathi kweliso: Olu luphawu lokuqala oluqatshelwayo. Ludla ngokuqala ebuntwaneni. Ngokuchanekileyo, kubonakala ngathi oko kubonwa ngqo akubonakali kakuhle.
• I-Photophobia: Ukuziva uvakalelwa kakhulu kukukhanya okuqaqambileyo: Kunzima ukubona xa ilanga okanye izibane zicimile, ngokungathi amehlo ajika abe luhlaza okwesibhakabhaka.
• Ubunzima bokwahlula imibala: Ngokuhamba kwexesha, imibala isenokungabonakali kangako kwaye inokukhokelela ekubeni kungabikho mbala ucacileyo .
• Ubumfama basebusuku (iNyctalopia): Ukubona kuba nzima kakhulu ebusuku kwiindawo ezikhanyisiweyo kancinci.
• Ukulahlekelwa ngumbono ojikelezayo: Akubona nje kuphela ukuba umbono owubonayo ngqo phambili uyehla kancinci kancinci, kodwa oko ukubonayo kumacala omabini elihlo lakho nako kuyehla kancinci kancinci.
• Ukulahlekelwa ngokupheleleyo kokubona (ubumfama): Eli lelona nqanaba libi kakhulu lesi sifo.

Ezi mpawu aziveli ngequbuliso. Zikhula kancinci kancinci. Ngoko ke ngamanye amaxesha, ekuqaleni, ungacinga ukuba ayisiyonto inkulu loo nto.

Kutheni oku kusenzeka? Zithini izizathu?

Njengoko besitshilo ngaphambili, `(CRD)` ubukhulu becala sisifo semfuza . Oko kukuthi, sibangelwa lutshintsho oluthile (iinguqu) ezenzeka kwi `(DNA)` yethu . Cinga ngayo, `(DNA)` yiplani yomzimba wethu. Ukuba kukho impazamo encinci kuloo plani, inokubangela iimeko ezinje.

Uphando lufumanise ukuba kukho ubuncinane iinguqu ezahlukeneyo zemfuza ezingama-28 ezinokubangela oku `(CRD)`. Kukho iindlela ezahlukeneyo esinokuzizuza njengelifa ezi nguqu:

• `(I-Autosomal dominant)`: Kule meko, esi sifo sinokwenzeka nokuba i-gene enesiphene ifunyenwe kumzali omnye kuphela , nokuba ngumama okanye ngutata.
• `(Autosomal recessive)`: Kule ndlela, esi sifo senzeka kuphela ukuba i-gene enesiphene ifunyenwe kubazali bobabini . Ukuba ivela kumzali omnye kuphela, loo mntu usenokuba ngumthwali wesifo, kodwa akayi kubonisa zimpawu.
• `(X-linked)`: Oku kubangelwa yijini edibene ne-chromosome X. Umngcipheko uxhomekeke ekubeni nguwuphi umzali onejini enesiphene.

Iinguqu ezine zemfuza ezinokubangela iCone-Rod Dystrophy zezi:

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

Nangona ezi ziyinkimbinkimbi kancinci kwezonyango, ezi jini zezona zinceda iiseli zekhoni kunye neentonga emehlweni ethu ukuba zisebenze kakuhle. Ngoko ke xa kukho ingxaki ngezi jini, ukusebenza kwezo seli kuyaphazamiseka.

Ungayixilonga njani ngokuchanekileyo le sifo? (Ukuxilongwa)

Ukuba wena okanye umntwana wakho ninayo nayiphi na kwezi mpawu, ngokuqinisekileyo kuya kufuneka nidibane nengcali yokhathalelo lwamehlo . Ingakuxelela ngokuqinisekileyo ukuba le yi-CRD okanye sisifo samehlo.

Usebenzisa iindlela ezahlukeneyo zokuxilonga izifo:

1. Buza ngembali yakho yezonyango kunye neempawu: izinto ezifana notshintsho ekuboneni kwakho kunye nokuba kukho umntu kusapho lwakho oye waba neengxaki ezifanayo.

2. Uvavanyo lwamehlo olupheleleyo lwenziwa: Oku kungabandakanya uthotho lweemvavanyo.

• Uvavanyo lobuchule bokubona:Ukuvumela abantu ukuba bafunde iileta baze babone ukuba babona kude kangakanani.
• Uvavanyo lokujonga imibala: Ukujonga ukuba uyakwazi na ukwahlula imibala ngokuchanekileyo.
• Uvavanyo lwesibane esiqhekekileyo: Ukujonga ngaphakathi kweliso ngesixhobo esikhethekileyo sokukhulisa.

Nangona ezi mvavanyo zibalulekile, uvavanyo olubalulekileyo nolucacileyo lokuqinisekisa iCone-Rod Dystrophy yiElectroretinography. Olu luvavanyo olukhethekileyo. Lulinganisa ngokuthe ngqo umsebenzi wombane we-retina. Ukuba i-CRD ikhona, olu vavanyo lunokuchonga iipatheni ezithile zomsebenzi (okanye ukungabikho komsebenzi).

Ukongeza, ugqirha wakho wamehlo unokucebisa uvavanyo lwemfuza . Oku kukujonga ukuba ngaba une-gene mutation eyaziwayo ukuba ibangela i-CRD. Oku kubaluleke kakhulu ukuba umntu osondeleyo kusapho lwakho (umama, utata, abantakwenu, abantwana) une-CRD, okanye ukuba usemngciphekweni wokudlulisela esi sifo kubantwana bakho.

Zithini iindlela zokunyanga oku? Ngaba kunokunyangwa?

Owu, ukuba ndithetha inyani, okwangoku akukho nyango lwale sifo `(Cone-Rod Dystrophy)`. Le yeyona nto ibuhlungu kakhulu.

Nangona kunjalo, akukho mfuneko yokulahla ithemba ngokupheleleyo. Indlela ekhoyo ngoku kukucothisa ukuqhubela phambili kwesi sifo nokunyanga naziphi na iimpawu kunye neengxaki ezivelayo. Ugqirha wakho wamehlo anokunceda koku. Oku kungabandakanya:

• Ukukhusela ukukhanya: Ukusebenzisa iiglasi zelanga, iiglasi zamehlo ezinombala, okanye iilensi zokunxibelelana kunokunceda ukunciphisa umngcipheko wokonakala kweeseli ze-retina ngenxa yokukhanya.
• Ukulungiswa kokubona: Kwinqanaba lokuqala lesi sifo, iiglasi zinokunceda ekungabonini kakuhle.
• Izixhobo zokunceda abantu abangaboni kakuhle: Ezi zizixhobo ezinceda abantu abangaboni kakuhle ukuba benze imisebenzi yemihla ngemihla. Ziqala kwiiglasi ezilula zokukhulisa ukuya kwizixhobo zobuchwepheshe obuphezulu ezifana neenkqubo zekhompyutha zokufunda isikrini.
• Ukulungiswa kokubona: Olu luhlobo olukhethekileyo loqeqesho olukufundisa indlela yokujongana nokwenza imisebenzi yemihla ngemihla xa ungaboni kakuhle.
• Izongezo zesondlo: Kukho inkolelo yokuba iivithamini kunye neeminerali ezithile (ii-micronutrients) zinokucothisa ukuqhubela phambili kwe-CRD. Nangona kunjalo, ezi zinto mazithathwe kuphela phantsi kwengcebiso kagqirha . Ugqirha wakho wamehlo uza kukuxelela ukuba zeziphi ezilungileyo nezingalunganga.
• Inkxaso yempilo yengqondo:Ukulahlekelwa yimfama kunokuba yinto ebangela uxinzelelo noloyiko . Abantu abaninzi abane-CRD banokufumana iimpawu ezifana nokuxhalaba okanye ukudakumba. Ke ngoko, ukufuna iingcebiso kunye nenkxaso yengqondo kunokuba luncedo olukhulu ekujongeni ezi mvakalelo kunye nokujongana nazo.

Ngaba kuya kubakho unyango olutsha kwixesha elizayo? (Uphando)

Abaphandi okwangoku baphanda ukuba unyango lwezakhi zofuzo lungasetyenziswa na ukunyanga iCone-Rod Dystrophy. Oko kukuthi, iindlela ezinokulungisa izakhi zofuzo ezinesiphako esithethe ngazo.

Nangona kunjalo, olu nyango lusekwinqanaba lokuqala lenkqubo yophando . Oku kuthetha ukuba kuya kuthatha ubuncinane iminyaka embalwa ngaphambi kokuba sifumane olu nyango. Kwakhona, luya kukhutshwa kuphela ukuba ezo zifundo ziqinisekisa ukuba olu nyango lukhuselekile kwaye luyasebenza .

Ngoko ke, nangona kunzima ukuba nethemba elikhulu ngezi ndlela zonyango ngeli xesha, kubalulekile ukukhumbula ukuba ezi ndlela zinokubanceda abantu abane-CRD kwixesha elizayo .

Yintoni eyenzeka kumntu one-cone-rod dystrophy (CRD)?

Iziphumo ze-CRD zihlala ziqala ebuntwaneni . Abantwana abane-CRD banokuba neengxaki zokubona ngaphambi kokuba bafikelele kwiminyaka eli-10. Ngenxa yoko, ngamanye amaxesha ootitshala besikolo ngabona baqala ukubona utshintsho embonweni womntwana.

Uninzi lwabantu abane-CRD banokulahlekelwa kukubona kwabo bade babe ziimfama ngokusemthethweni xa beneminyaka engama-20 ubudala. Nangona kunjalo, kwabanye abantu, ngenxa yokuba esi sifo siqhubeka kancinci okanye umonakalo awubi mkhulu kangako, kungathatha ixesha elide ukuya kwiminyaka engama-30 okanye engama-40 ukufikelela kweli nqanaba.

Iyintoni ikamva lale meko?

`(CRD)` ayisosifo esisongela ubomi . Oko kuthetha ukuba asibulali. Nangona kunjalo, sisifo esibangela ukuphazamiseka okukhulu ebomini kwaye ekugqibeleni sikhokelela ekukhubazekeni .

Kodwa ungafunda ukuphila nokulahlekelwa yimbono , ingakumbi ngoncedo loogqirha, iinkonzo zenkxaso, kunye nezinye izixhobo.

Eyona nto ibalulekileyo kukuqonda ukuba awuwedwa. Musa ukoyika ukucela uncedo.

Ngaba ikho indlela yokuthintela oku?

Njengoko besitshilo ngaphambili, iCone-Rod Dystrophy sisifo esibangelwa kakhulu ziinguqu zemfuza . Ngoko ke, ngokusekelwe kulwazi lwangoku, akukho ndlela yokuthintela okanye yokunciphisa umngcipheko wokufumana i-CRD . Abaphandi basaphanda ukuba ngaba kukho ezinye izizathu okanye izinto ezibangela le meko.

Ukuba ndine-CRD, ndingazinyamekela njani?

Ukuba une-`(CRD)`, kubaluleke kakhulu ukubona ingcali yamehlo rhoqo ukuze ihlolwe amehlo.Emva koko unokujonga utshintsho emehlweni akho, alungise unyango lwakho ngokufanelekileyo, aze akunike ulwazi olutsha.

Ugqirha wakho wamehlo kunye nabanye ababoneleli ngeenkonzo zempilo banokukunceda uphile ne-CRD. Banokukunceda ukuba uziqhelanise nayo kwaye ulungiselele ikamva. Banokukugcina unolwazi malunga nonyango olutsha kwaye bakunike ulwazi.

Ndingayibuza ntoni ugqirha/nkosikazi?

Xa ubona ugqirha, kuya kuba luncedo kuwe ukubuza imibuzo efana nale:

• Ingakanani imbono yam eyehlileyo?
• Siza kuqhubeka njani esi sifo `(CRD)`? Ungacinga ukuba kuza kuthatha ixesha elingakanani?
• Ngaba mna nosapho lwam kufuneka sivavanywe ngokwemfuza ukuze kufunyaniswe ukuba loluphi kanye kanye utshintsho lwe-DNA olubangele oku?
• Ndingenza ntoni ngoku ukuze ndicothise ukuqhubela phambili kwesi sifo?
• Ngaba kukho iinkqubo okanye izixhobo endinokuzisebenzisa ukundinceda ndiziqhelanise notshintsho lwangoku kwaye ndilungiselele utshintsho oluzayo?

Xa ulahlekelwa kukubona ngenxa yeCone-Rod Dystrophy, ungaziva ungodwa kwaye unesizungu kwihlabathi nakwabanye abantu. Kuqhelekile ukuba nexhala kwaye ukhathazeke ngento eza kutshintsha kwixesha elizayo.

Nangona kunjalo, le ayiyomeko ekufuneka ujongane nayo wedwa . Ugqirha wakho wamehlo, abanye oogqirha, kunye neengcali baya kukunika ukhathalelo, inkxaso, isikhokelo kunye nezixhobo ozidingayo. Ungoyiki ukucela uncedo kubo. Baza kukunceda uqhelane kwaye ujongane nempembelelo yokulahlekelwa kukubona.

Okokugqibela, umyalezo oya ekhaya:

I-Cone-Rod Dystrophy (CRD) sisifo samehlo esisongela ubomi apho iiseli ezisemehlweni ethu ezibizwa ngokuba zii-cones kunye nee-rods zonakala kancinci kancinci, nto leyo ebangela ukulahleka kokubona. Idla ngokuba yimfuza kwaye inokuqala ebuntwaneni.

Nangona okwangoku kungekho nyango, zininzi iindlela zokulawula iimpawu, ukunciphisa ukuqhubela phambili kwesi sifo, kunye nokukunceda uphile nokulahlekelwa yimbono.

Ukuba wena okanye umntu omaziyo unale mpawu, bonana nogqirha wamehlo ngokukhawuleza . Kubaluleke kakhulu ukufumana uxilongo oluchanekileyo kunye nesikhokelo.

Khumbula, awuwedwa. Fumana inkxaso noncedo olufunayo. Ukuhlala unethemba nako kubaluleke kakhulu!

i- cone-rod dystrophy, i-CRD, ukulahleka kokubona, i-retina, ii-cone cells, ii-rod cells, izifo zemfuza, izifo zamehlo