Ingabe isikhumba sakho, izinwele, namehlo akho akhanya ngendlela engavamile? Kungenzeka yini ukuthi kungenxa ye-Oculocutaneous Albinism (OCA)?

Wake wababona abantu abanesikhumba nezinwele ezicwebezelayo, ngezinye izikhathi ngisho nezimhlophe? Ngisho namehlo abo akhanya, njengomuntu ovela kwelinye izwe. Mhlawumbe omunye wamalungu omndeni wakho, umngane, noma ngisho nengane yakho unalezi zimpawu. Ngokwezokwelapha, lokhu sikubiza ngokuthi i-Oculocutaneous Albinism (OCA). Ungesabi, noma ngabe igama lizwakala lide kancane. Lesi yisimo esingavamile, okungukuthi, esingavamile kakhulu, sofuzo. Namuhla, sizokhuluma ngaso ngendlela elula kakhulu, ukuze usiqonde.

Manje kumelwe ukuthi uyazibuza ukuthi iyini le-albinism (OCA) nokuthi kungani yenzeka, akunjalo? Kalula nje, kukhona okuthile emzimbeni wethu okunikeza isikhumba sethu, izinwele, namehlo umbala, futhi kubizwa ngokuthi i-melanin. Kufana nopende. Le melanin yilokho okunikeza isikhumba sethu, izinwele, namehlo umbala wawo oyingqayizivele. Ngakho-ke, okwenzekayo kubantu abane-albinism ukuthi imizimba yabo ayikwazi ukukhiqiza le melanin kahle noma ukuyisabalalisa kuyo yonke imizimba yabo. Cabanga nje, lapho upende uncipha kancane, uba nombala okhanyayo. Yingakho isikhumba sabo, izinwele, namehlo kuba mhlophe kakhulu kunalokho obekulindelwe. Lokhu kwehla kwe-melanin akuthinti nje ukubukeka, kodwa le melanin nayo ibalulekile ukuze amehlo ethu asebenze kahle.

Lokhu kushintsha kokubukeka kungaba namahloni kancane kwabanye abantu, futhi kuvamile ukuzizwa unamahloni futhi ukhathazekile ngokubukeka ngendlela ehlukile emphakathini. Futhi, imiphumela emehlweni ingenza kube nzima ukwenza imisebenzi yansuku zonke. Kungaba yinto ekhungathekisayo ngempela. Kodwa, ingxenye engcono kakhulu ukuthi, kunezindlela zokwelapha ezingasiza ekunciphiseni imiphumela emehlweni kulesi simo.

Wazi kanjani ukuthi une-albinism (OCA)? Ziyini izimpawu?

Ngaphezu kwezimpawu ongase uzibone kulesi simo sobu-albinism (OCA), kukhona nezimpawu udokotela kuphela angazibona ngokuhlolwa okukhethekile. Ake sibheke ukuthi ziyini.

Izinguquko ezibonakalayo esikhumbeni nasezinweleni

Lolu uphawu oluvame kakhulu nolubonakala kalula lwe-albinism (OCA).

• Ukushintsha kwezinwele: Abantu abane-albinism (OCA) bangase babe nezinwele ezimhlophe noma umbala ophuzi/ogolide okhanyayo kakhulu. Lokhu kuvame kakhulu ezinganeni ezincane. Kodwa-ke, njengoba bekhula, njengasebuntwaneni noma ebusheni, izinwele zabo zingase ziqale ukuthola umbala othile. Izinkophe, amashiya, nezinye izinwele zomzimba nazo zingase zibe mhlophe noma zibe lula.
• Izinguquko zesikhumba: Kuye ngohlobo lwe-albinism (OCA) onalo, isikhumba sakho singase sibe mhlophe kakhulu. Isikhumba sabanye abantu singase sibe sikhanya kangangokuthi singase sibonakale sikhanya, okusho ukuthi isikhumba singase sibe sincane kakhulu futhi sibonakale. Abanye bangase bangashisi njengengane, kodwa bangase babe noshintsho oluncane embala wesikhumba njengoba bekhula.

Izimpawu kanye nokungakhululeki okubonakala emehlweni

I-Albinism (OCA) ingabangela nezinguquko eziphawulekayo embala wamehlo.

• Uma une-albinism (OCA), i-iris yamehlo akho ingaba nombala oluhlaza okwesibhakabhaka/ompunga okhanyayo. Ngezinye izikhathi, lapho ukukhanya kushaya amehlo akho, i-iris ingase ibonakale iphinki noma ibomvu. Lo mbala ungashintsha futhi empilweni yakho yonke. Kodwa-ke, ezinye izinhlobo ze-albinism (OCA) nazo zingabangela amehlo ansundu.

Ezinye izinkinga zamehlo ongase ubhekane nazo zifaka:

• Izinkinga zokubona: Ukubona okufiphele, ukubona okukabili, noma ukubona okuphansi.
• Ukwesaba ukukhanya kwelanga: Lokhu kusho ukuthi kunzima ukugcina amehlo akho evulekile elangeni noma ezibanini ezikhanyayo, bese amehlo akho eba luhlaza okwesibhakabhaka.
• Izinguquko endleleni amehlo amabili asebenzisana ngayo: Izimo ezifana ne-strabismus, lapho amehlo engabhekiseli khona ohlangothini olulodwa, kanye nobunzima bokuhlanganisa lokho amehlo amabili akubonayo kube isithombe esisodwa (ukungasebenzi kahle kokubona kwe-binocular).
• Ukunyakaza kwamehlo okusheshayo nokungalawuleki (i-Nystagmus): Lokhu kungaba yinto ecasulayo kakhulu.
• Ukubona okufiphele ngenxa yezinguquko esimweni seso (Amaphutha okubheka): Kufana nezimo lapho kudingeka khona izibuko.

Lokho udokotela akubonayo ngesikhathi sokuhlolwa kwamehlo

Uma uya kudokotela wamehlo, kunezinye izimpawu azozibheka ngesikhathi sokuhlolwa:

• Indandatho emnyama (iris) esweni lakho incane kangangokuthi ungabona ukukhanya okudlula kuyo uma uhlola amehlo akho.
• Kungase kube nezinguquko esimweni se-retina yakho, ezingathinta indlela iso lakho elisebenza ngayo.
• Kunethuba elikhulu lokushintsha isakhiwo senzwa yokubona, exhumanisa amehlo nobuchopho. Lokhu kungathinta indlela ubuchopho obucubungula ngayo lokho okubonayo nendlela obona ngayo umhlaba.

Ezinye izimpawu ezingaba khona

Ezinye izinhlobo zobu-albinism (OCA), noma ezinye izimo ezibangela lokhu, zingabangela ezinye izimpawu nemiphumela ethile. Ezinye izibonelo yilezi:

• Ukukhubazeka kwengqondo
• Izinguquko zokuphakama
• Izinkinga zokulawula imisipha noma ukuphazamiseka kokunyakaza

Kodwa-ke, ezinye izimpawu ezinjengalezi zenzeka ngendlela engavamile kakhulu ye-albinism (OCA). Udokotela wakho angakweluleka kangcono ngezimpawu wena (noma ingane oyinakekelayo) ongase uzizwe.

Kungani lokhu kuba yi-albinism (OCA)?

I-Albinism (OCA) ibangelwa ushintsho (ukuguqulwa) ku-DNA yethu, okusho ukuthi isici sofuzo esithinta indlela umzimba wethu okhiqiza ngayo i-melanin. Ngakho-ke, kuyisimo sofuzo. Kunezindlela ezimbili okungenzeka ngazo:

• Ifa elivela kubazali: Ngokuvamile, i-albinism (OCA) ibangelwa ukukhubazeka kwezakhi zofuzo (ukuguqulwa kwezakhi zofuzo) okuzuzwe kubazali. Lokhu kuhlala kuzuzwa ngendlela yokubuyisana kwe-autosomal.Kalula nje, lokhu kusho ukuthi ingane izokhula lesi simo kuphela uma izuza ifa lofuzo olunephutha kunina nakuyise. Akwanele uma kuvela kokunye kwalokhu okubili.
• Izinguquko ezingahleliwe ezenzeka ngesikhathi sokukhulelwa: Ngezinye izikhathi, ushintsho olungahleliwe ezakhiweni zofuzo lungenzeka ekuqaleni kokuphila komntwana, hhayi oluzuzwe kubazali. Odokotela abazi kahle ukuthi kungani lokhu kwenzeka, futhi abakwazi ukukubikezela kusengaphambili.

Yiziphi ezinye izinkinga ezingabangelwa yi-albinism (OCA)?

Njengoba sesixoxile ngaphambili, i-melanin iyi-pigment evikelayo. Imizimba yethu iyikhiqiza ukuze imunce imisebe ye-UV eyingozi evela elangeni. Yingakho abantu abangenayo i-albinism bevame ukuba mnyama uma bephuma elangeni. Lo msebe we-UV ulimaza i-DNA emaseli esikhumba sethu. Lo monakalo wandisa ingozi yomdlavuza wesikhumba, ikakhulukazi i-basal cell carcinoma kanye ne-squamous cell carcinoma. Umonakalo ovela emisebeni ye-UV uyanqwabelana, ngakho-ke lapho umonakalo ukhona, kulapho ingozi yokuba nomdlavuza iphakama khona. Abantu abane-albinism bane-melanin encane, ngakho-ke kubalulekile ukuvikela isikhumba sabo elangeni.

Udokotela uyixilonga kanjani ngokunembile i-albinism (OCA)?

Udokotela angase asole ukuthi une-OCA uma ebona izinguquko esikhumbeni sakho, ezinweleni, noma emehlweni. Ivame ukutholakala isencane kakhulu. Odokotela bezingane bangabokuqala ukusiza ekuxilongeni lesi simo. Odokotela bangasebenzisa izindlela eziningana ukuqinisekisa i-OCA nokunquma uhlobo oluthile.

Ezinye zalezo zindlela yilezi:

• Ukuhlolwa komzimba
• Ukuhlolwa kwegazi
• Ukuhlolwa kwamehlo
• Ukuhlolwa kofuzo
• Ukuhlolwa kwamakhono abonakalayo avuselelwe (i-VEP)
• I-Optical coherence tomography (OCT)

Ingabe ikhona indlela yokwelapha ubu-albinism (OCA)?

Uma ngikhuluma iqiniso, alikho ikhambi le-albinism (OCA). Kodwa-ke, kunezindlela eziningana zokwelapha ezingasiza ekunciphiseni ukungakhululeki okuhambisana nalesi simo.

Inhloso eyinhloko yabantu abane-albinism (OCA) ukwelapha izimo zamehlo ezihlobene, okuhlanganisa:

• Iso elivilaphayo (i-Amblyopia)
• Iso eliphambene (iStrabismus)
• Amaphutha okubuyisa ukukhanya

Udokotela wakho wamehlo cishe uzoncoma ukuthi ugqoke izibuko zelanga noma amalensi anombala ukuze unciphise ukwesaba ukukhanya kwelanga futhi uvikele amehlo akho elangeni.

Kukhona umuthi owodwa othize obizwa ngokuthi i-nitisinone (obizwa ngokuthi i-Nityr® noma i-Orfadin®). Kutholakale ukuthi uyasiza kubantu abane-oculocutaneous albinism type-1. I-Nitisinone isebenza ngokulawula ukuwohloka kwe-amino acid ebalulekile ebizwa ngokuthi i-tyrosine emzimbeni wethu. Ucwaningo lwango-2019 lukhombisile ukuthi i-nitisinone isize abantu abadala abahlanu abane-albinism type-1 ukuba nombala wesikhumba futhi bathuthukise umbono. Abacwaningi bakholelwa nokuthi ukuqala umuthi usemncane kungaba ngcono nakakhulu.

Khumbula, kunezici eziningi ezihilela ekunqumeni izinketho zokwelapha, ngakho-ke udokotela wakho wamehlo kuphela ongakunikeza ulwazi mayelana nezinketho zokwelapha ezingcono kakhulu kuwe (kanye nengane yakho). Uzoba umqondisi wakho.

Kunjani ukuphila ne-albinism (OCA)?

I-Oculocutaneous albinism (OCA) iyisimo esihlala isikhathi eside. Imiphumela ingahluka kumuntu nomuntu. Abantu abaningi bayabona izinguquko emehlweni abo, ezinweleni nasesikhumbeni. Abanye abantu bayabona lezi zinguquko ngokucacile, kanti abanye bangase bangaziboni kangako.

Abantu abaningi abane-albinism (OCA) babhekana nezinkinga zempilo ezihlobene nalesi simo, ikakhulukazi izinkinga zamehlo. Kodwa-ke, izinkinga ezisongela ukuphila noma ezisongela ukuphila azivamile. Into ebaluleke kakhulu ukuvimbela ukulimala kwesikhumba okuvela elangeni kanye neminye imithombo yemisebe ye-UV.

Uma ulandela iseluleko sikadokotela wakho njalo futhi unakekela amehlo akho, abantu abaningi abane-albinism (OCA) bangaphila impilo evamile njengabo bonke abanye. Lesi simo ngokuvamile asithinti isikhathi sakho sokuphila, ikakhulukazi uma ugwema izinkinga ezifana nomdlavuza wesikhumba.

Ubu-Albinism (OCA) bungabonakala kalula kwabanye, noma kungaba yinto engabonakali kangako. Ukuphila nalesi simo - kungakhathaliseki ukuthi siyabonakala noma cha - kungahambisana nezinselele. Kodwa-ke, lezi yizinselele ongafuna usizo kuzo. Uma wena noma ingane oyinakekelayo inezimpawu zobu-albinism (OCA), kungcono ukubona udokotela noma uchwepheshe wamehlo. Bangakusiza ukuthi uqonde lesi simo futhi bakusize uthole ukwelashwa nezinsiza ezingakusiza.

Izinto ezibaluleke kakhulu okudingeka sizikhumbule kule ndaba yilezi:

Kulungile, nansi eminye yemibono okufanele uyikhumbule kulokho esikhulume ngakho namuhla:

• I-Oculocutaneous albinism (OCA) yisimo esibangelwa izakhi zofuzo. Kuyiphutha ekukhiqizweni noma ekusakazweni kwe-melanin, umbala onikeza umbala esikhumbeni sethu, ezinweleni nasemehlweni.
• Lesi yisimo esihlala isikhathi eside, kodwa ubunzima obuhambisana naso bungalawulwa.
• Into ebaluleke kakhulu ukuvikela isikhumba sakho elangeni.Ngenxa yokuthi i-melanin encane isho ingozi enkulu yomdlavuza wesikhumba, kubaluleke kakhulu ukugqoka izibuko zelanga, izigqoko, izingubo ezinde, kanye nesithako esihle sokuvikela ilanga.
• Kufanele futhi unake kakhulu amehlo akho. Bona udokotela wamehlo njalo ukuze uthole iseluleko.
• Kuvamile ukuzizwa udabukile futhi ukhathazekile ngalesi simo. Ungesabi ukucela usizo kudokotela, emndenini, noma kumngane omethembayo.
• Khumbula, noma ngabe une-albinism (OCA), ungaphila impilo ejabulisayo nephumelelayo njengabo bonke abanye!

Uma uneminye imibuzo mayelana nalokhu, khuluma nodokotela nakanjani. Ungakhathazeki, kunezixazululo zakho konke.

Ubu - Albinism, i-OCA, izifo zesikhumba, izifo zamehlo, izifo zofuzo, i-melanin, ukuvikelwa kwelanga