Ingaba ulusu lwakho, iinwele zakho, namehlo akho akhanya ngokungaqhelekanga? Ngaba kungenxa ye-Oculocutaneous Albinism (OCA)?

Ngaba wakha wababona abantu abanesikhumba neenwele ezintle kakhulu, ngamanye amaxesha zimhlophe? Kwanamehlo abo akhanya, njengomntu ovela kwelinye ilizwe. Mhlawumbi omnye wamalungu osapho lwakho, umhlobo, okanye nomntwana wakho unazo ezi mpawu. Ngokwezonyango, oku sikubiza ngokuba yi-Oculocutaneous Albinism (OCA). Musa ukoyika, nokuba igama livakala lide kancinci. Le yimeko engaqhelekanga, oko kukuthi, engaqhelekanga kakhulu, yemfuza. Namhlanje, siza kuthetha ngayo ngendlela elula kakhulu, ukuze uyiqonde.

Ngoku umele ukuba uyazibuza ukuba yintoni le albinism (OCA) kwaye kutheni isenzeka, akunjalo? Ngamafutshane, kukho into emzimbeni wethu enika umbala kulusu lwethu, iinwele, namehlo, kwaye ibizwa ngokuba yi-melanin. Ifana nepeyinti. Le melanin yiyo enika ulusu lwethu, iinwele, namehlo umbala wazo owahlukileyo. Ngoko ke, okwenzekayo kubantu abane-albinism kukuba imizimba yabo ayikwazi ukuvelisa le melanin ngokufanelekileyo okanye ukuyisasaza kuyo yonke imizimba yabo. Khawuthelekelele, xa ipeyinti incipha kancinci, iba mhlophe ngombala. Yiyo loo nto ulusu lwabo, iinwele, namehlo abo ekhanya kakhulu kunokuba bekulindelwe. Oku kuncipha kwe-melanin akuchaphazeli nje kuphela inkangeleko, kodwa le melanin ikwabalulekile ukuze amehlo ethu asebenze ngokufanelekileyo.

Olu tshintsho kwinkangeleko lunokuba yintloni kancinci kwabanye abantu, kwaye kuqhelekile ukuba neentloni kancinci kwaye uxhalabele ukubonakala wahlukile kuluntu. Kwakhona, iziphumo emehlweni zinokwenza kube nzima ukwenza imisebenzi yemihla ngemihla. Kunokuba yinto ecaphukisayo ngokwenene. Kodwa, eyona nto ilungileyo kukuba, kukho unyango olunokunceda ukunciphisa iziphumo emehlweni kule meko.

Uyazi njani ukuba une-albinism (OCA)? Zithini iimpawu?

Ukongeza kwiimpawu onokuzibona kule meko ye-albinism (OCA), kukwakho neempawu ezinokubonwa ngugqirha kuphela ngovavanyo olukhethekileyo. Makhe sijonge ukuba zeziphi.

Utshintsho olubonakalayo kulusu neenwele

Olu lolona phawu luqhelekileyo nolubonakala lula lwe-albinism (OCA).

• Utshintsho kwiinwele: Abantu abane-albinism (OCA) banokuba neenwele ezimhlophe okanye umbala otyheli/golide okhanyayo kakhulu. Oku kuqhelekile ngakumbi kubantwana abancinci. Nangona kunjalo, njengoko bekhula, njengasebuntwaneni okanye ebusheni, iinwele zabo zisenokuqala ukufumana umbala othile. Iinkophe, amashiya, kunye nezinye iinwele zomzimba nazo zinokuba mhlophe okanye zikhaphukhaphu.
• Utshintsho lolusu: Ngokuxhomekeke kuhlobo lwe-albinism (OCA) onalo, ulusu lwakho lusenokuba mhlophe kakhulu. Ulusu lwabanye abantu lunokuba lukhanya kangangokuba lunokubonakala lukhanya, oko kuthetha ukuba ulusu lunokuba luncinci kwaye lubonakala. Abanye basenokungabi mnyama xa besebancinci, kodwa banokutshintsha umbala wolusu njengoko bekhula.

Iimpawu kunye nokungonwabi okubonakala emehlweni

I-Albinism (OCA) inokubangela utshintsho olubonakalayo kumbala wamehlo.

• Ukuba une-albinism (OCA), i-iris yamehlo akho inokuba nombala oluhlaza okwesibhakabhaka/ongwevu okhanyayo. Ngamanye amaxesha, xa ukukhanya kubetha emehlweni akho, i-iris ingabonakala ipinki okanye ibomvu. Lo mbala unokutshintsha ubomi bakho bonke. Nangona kunjalo, ezinye iintlobo ze-albinism (OCA) zinokubangela namehlo amdaka.

Ezinye iingxaki zamehlo onokuzifumana ziquka:

• Iingxaki zokubona: Ukubona okufipheleyo, ukubona kabini, okanye ukubona okuphantsi.
• Uloyiko lokubona ilanga: Oku kuthetha ukuba kunzima ukugcina amehlo akho evulelekile ekukhanyeni kwelanga okanye kwizibane ezikhanyayo, aze amehlo akho abe luhlaza okwesibhakabhaka.
• Utshintsho kwindlela asebenzisana ngayo la mehlo mabini: Iimeko ezifana ne-strabismus, apho amehlo engajongi kwicala elinye, kunye nobunzima bokudibanisa oko amehlo omabini akubonayo kumfanekiso omnye (ukungasebenzi kakuhle kombono we-binocular).
• Iintshukumo zamehlo ezikhawulezayo nezingalawulekiyo (iNystagmus): Oku kunokuba yinto ecaphukisayo kakhulu.
• Ukubona okufipheleyo ngenxa yotshintsho kwimo yeliso (Iimpazamo zeRefractive): Kufana naxa kufuneka iiglasi.

Oko ugqirha akubonayo ngexesha lovavanyo lwamehlo

Xa usiya kugqirha wamehlo, kukho ezinye iimpawu aza kuzijonga ngexesha lovavanyo:

• Isangqa esimnyama esisesweni lakho (iris) sincinci kangangokuba unokubona ukukhanya okudlula kuso xa uhlola amehlo akho.
• Kunokubakho utshintsho kwimo ye-retina yakho, olunokuchaphazela indlela elisebenza ngayo iliso lakho.
• Kukho amathuba aphezulu otshintsho kwisakhiwo se-optic nerve, edibanisa amehlo nengqondo. Oku kunokuchaphazela indlela ingqondo esebenza ngayo into oyibonayo kunye nendlela oyibona ngayo ihlabathi.

Ezinye iimpawu ezinokwenzeka

Ezinye iintlobo ze-albinism (OCA), okanye ezinye iimeko ezibangela oku, zinokubangela ezinye iimpawu ezithile kunye nemiphumo. Eminye imizekelo yile:

• Ukukhubazeka kwengqondo
• Utshintsho lokuphakama
• Iingxaki zokulawula izihlunu okanye iingxaki zokunyakaza

Nangona kunjalo, ezinye iimpawu ezifana nezi zenzeka ngohlobo olungaqhelekanga lwe-albinism (OCA). Ugqirha wakho unokukunika ingcebiso engcono ngeempawu onokuzifumana (okanye umntwana omkhathalelayo).

Kutheni le nto i-albinism (OCA) isenzeka?

I-Albinism (OCA) ibangelwa lutshintsho (ukuguqulwa) kwi-DNA yethu, oku kuthetha isiphene semfuza esichaphazela indlela umzimba wethu ovelisa ngayo i-melanin. Ngoko ke, yimeko yemfuza. Zimbini iindlela enokwenzeka ngayo:

• Ilifa elivela kubazali: Ngokuqhelekileyo, i-albinism (OCA) ibangelwa ziziphene zemfuza (iinguqu) ezizuzwe kubazali. Ezi zihlala zizuzwa ngendlela ye-autosomal recessive.Ngamafutshane, oku kuthetha ukuba umntwana uza kuba nale meko kuphela ukuba ufumana ilifa le-gene enesiphene kumama nakutata wakhe. Akwanelanga ukuba ivela komnye wabo bobabini.
• Utshintsho olungalindelekanga olwenzeka ngexesha lesigaba sokuzalwa komntwana: Ngamanye amaxesha, utshintsho olungalindelekanga kwiijini lunokwenzeka kwasekuqaleni kobomi bomntwana, lungafunyanwanga ngabazali. Oogqirha abazi ukuba kutheni oku kusenzeka, kwaye abanakukwazi ukukuxela kwangaphambili.

Zeziphi ezinye iingxaki ezinokubangelwa yi-albinism (OCA)?

Njengoko besikhe sathetha ngaphambili, i-melanin yipigment ekhuselayo. Imizimba yethu iyivelisa ukuze ifunxe imisebe ye-UV eyingozi evela elangeni. Yiyo loo nto abantu abangenayo i-albinism bedla ngokuba mnyama xa bephuma elangeni. Le misebe ye-UV yonakalisa i-DNA kwiiseli zethu zesikhumba. Lo monakalo unyusa umngcipheko womhlaza wesikhumba, ngakumbi i-basal cell carcinoma kunye ne-squamous cell carcinoma. Umonakalo ovela kwimitha ye-UV uyaqokelelana, ngoko ke okukhona umonakalo ukhona, kokukhona umngcipheko wokuba nomhlaza uphezulu. Abantu abane-albinism bane-melanin encinci, ngoko ke kubalulekile ukukhusela ulusu lwabo elangeni.

Ugqirha uyixilonga njani ngokuchanekileyo i-albinism (OCA)?

Ugqirha unokurhanela ukuba une-OCA xa ebona utshintsho eluswini lwakho, ezinweleni, okanye emehlweni. Idla ngokuchongwa usemncinci kakhulu. Iingcali zabantwana ngabona baqalayo ukunceda ekuchongeni imeko. Oogqirha banokusebenzisa iindlela ezahlukeneyo ukuqinisekisa i-OCA kunye nokuchonga uhlobo oluthile.

Ezinye zezo ndlela zezi:

• Uvavanyo lomzimba
• Uvavanyo lwegazi
• Uvavanyo lwamehlo
• Uvavanyo lwemfuza
• Uvavanyo lwe-Visual evoked potentials (VEP)
• I-Optical coherence tomography (OCT)

Ngaba ikho indlela yonyango lwe-albinism (OCA)?

Inyaniso kukuba, akukho nyango lwe-albinism (OCA). Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezinokunceda ukunciphisa ukungonwabi okunxulumene nale meko.

Eyona nto iphambili kubantu abane-albinism (OCA) kunyango lweengxaki zamehlo ezinxulumene noko, kuquka:

• Iliso elivilaphayo (i-Amblyopia)
• Iliso elinqamlezileyo (iStrabismus)
• Iimpazamo zokuhombisa

Ugqirha wakho wamehlo usenokucebisa ukuba unxibe iiglasi zelanga okanye iilensi ezinombala ukuze unciphise i-photophobia kwaye ukhusele amehlo akho elangeni.

Kukho iyeza elithile elibizwa ngokuba yi-nitisinone (igama lebrendi elithi Nityr® okanye i-Orfadin®). Lifunyenwe liluncedo kubantu abane-oculocutaneous albinism type-1. I-Nitisinone isebenza ngokulawula ukuqhekeka kwe-amino acid ebalulekileyo ebizwa ngokuba yi-tyrosine emzimbeni wethu. Uphononongo luka-2019 lubonise ukuba i-nitisinone incede abantu abadala abahlanu abane-albinism type-1 ukuba baphuhlise umbala wolusu kwaye baphucule umbono. Abaphandi bakwakholelwa ukuba ukuqala iyeza besebancinci kunokuba luncedo ngakumbi.

Khumbula, zininzi izinto ezibangela ukuba umntu akhethe iindlela zonyango, ngoko ke yingcali yamehlo kuphela enokukunika ulwazi malunga neendlela zonyango ezilungileyo kuwe (nakumntwana wakho). Nguye oza kuba ngumkhokeli wakho.

Kunjani ukuphila ne-albinism (OCA)?

I-Oculocutaneous albinism (OCA) yimeko ehlala ubomi bonke. Iziphumo zingahluka kumntu nomntu. Abantu abaninzi baphawula utshintsho emehlweni abo, kwiinwele zabo, nakulusu lwabo. Abanye abantu baqaphela olu tshintsho ngokucacileyo, ngelixa abanye besenokungaluboni kangako.

Abantu abaninzi abane-albinism (OCA) bafumana iingxaki zempilo ezinxulumene nale meko, ingakumbi iingxaki zamehlo. Nangona kunjalo, iingxaki ezisongela ubomi okanye ezisongela ubomi azixhaphakanga. Eyona nto ibalulekileyo kukuthintela ukonakala kolusu ngenxa yelanga kunye neminye imithombo yemitha ye-UV.

Ukuba ulandela icebiso likagqirha wakho rhoqo kwaye unyamekela amehlo akho, uninzi lwabantu abane-albinism (OCA) banokuphila ubomi obuqhelekileyo njengaye wonke umntu. Esi sifo asidli ngokuchaphazela ubomi bakho, ingakumbi ukuba uyaziphepha iingxaki ezifana nomhlaza wolusu.

I-Albinism (OCA) inokubonwa lula ngabanye, okanye ingaba yinto engacacanga kangako. Ukuphila nale meko - nokuba iyabonakala okanye ayibonakali - kunokuza nemingeni. Nangona kunjalo, le yimingeni onokufuna uncedo kuyo. Ukuba wena okanye umntwana omnyamekelayo uneempawu ze-albinism (OCA), kungcono ukubona ugqirha okanye ingcali yamehlo. Banokukunceda uyiqonde imeko kwaye bakuncede ufumane unyango kunye nezixhobo ezinokukunceda.

Ezona zinto zibalulekileyo ekufuneka sizikhumbule kweli bali zezi:

Kulungile, nazi izinto ekufuneka uzikhumbule koko sithethe ngako namhlanje:

• I-Oculocutaneous albinism (OCA) yimeko yemfuza. Sisiphene ekuvelisweni okanye ekusasazweni kwe-melanin, umbala onika umbala kulusu lwethu, iinwele kunye namehlo ethu.
• Le yimeko ehlala ihleli, kodwa ubunzima obuhambisana nayo bunokulawulwa.
• Eyona nto ibalulekileyo kukukhusela ulusu lwakho elangeni.Ngenxa yokuba i-melanin encinci ithetha umngcipheko ophezulu womhlaza wolusu, kubaluleke kakhulu ukunxiba iiglasi zelanga, iminqwazi, impahla ende, kunye ne-sunscreen elungileyo.
• Kufuneka unikele ingqalelo ekhethekileyo emehlweni akho. Bona ugqirha wamehlo rhoqo ukuze ufumane ingcebiso.
• Kuqhelekile ukuba buhlungu kwaye uxhalabile ngale meko. Musa ukoyika ukucela uncedo kugqirha, kusapho, okanye kumhlobo othembekileyo.
• Khumbula, nokuba une-albinism (OCA), ungaphila ubomi obonwabisayo nobunempumelelo njengaye wonke umntu!

Ukuba unemibuzo engaphezulu ngale nto, ngokuqinisekileyo thetha nogqirha. Ungakhathazeki, kukho izisombululo kuyo yonke into.

I- Albinism, i-OCA, izifo zolusu, izifo zamehlo, izifo zemfuza, i-melanin, ukukhuselwa lilanga