Ðe wò ŋutigbalẽ, ɖa, kple ŋkuwo le keklẽm le mɔ si mebɔ o nua? Ðe wòate ŋu atso Oculocutaneous Albinism (OCA) gbɔa?

Èkpɔ ame aɖewo siwo ƒe ŋutigbalẽ kple taɖa le ɣie ŋutɔ, eye ɣeaɖewoɣi la, woƒe taɖa le ɣie gɔ̃ hã kpɔa? Woƒe ŋkuwo gɔ̃ hã le keklẽm, abe ame aɖe si tso dukɔ bubu me ene. Ðewohĩ nɔnɔme siawo le wò ƒomea me tɔ aɖe, xɔ̃wò aɖe, alo viwò ŋutɔ gɔ̃ hã si. Le atikewɔwɔ me la, míeyɔa esia be Oculocutaneous Albinism (OCA). Mègavɔ̃ o, ne ŋkɔa ɖi didi vie gɔ̃ hã. Esia nye domenyiŋusẽfianu ƒe nɔnɔme si mebɔ o, si fia be mebɔ kura o. Egbea, míaƒo nu tso eŋu le mɔ bɔbɔe aɖe ŋutɔ nu, ale be nàte ŋu ase egɔme.

Fifia anya nɔ ɖokuiwò biam be nukae nye albinism (OCA) sia kple nukatae wòdzɔna ɖo, alo? Kpuie ko la, nane le míaƒe ŋutilã me si naa amadede míaƒe ŋutigbalẽ, taɖa, kple ŋkuwo, eye woyɔnɛ be melanin. Ele abe amadede ene. Melanin siae naa míaƒe ŋutigbalẽ, ɖa, kple ŋkuwo ƒe amadede tɔxɛ. Eyata nusi dzɔna ɖe amesiwo ŋu albinism le dzi enye be woƒe ŋutilã mete ŋu wɔa melanin sia nyuie alo maae ɖe woƒe ŋutilã katã me o. Bu eŋu kpɔ, ne amadedea dzi ɖe kpɔtɔ vie la, eƒe amadede va nɔa bɔbɔe. Esia tae woƒe ŋutigbalẽ, taɖa, kple ŋkuwo va nɔa keklẽm sã wu alesi wokpɔ mɔe ɖo. Menye ɖeko melanin ƒe ɖiɖi sia kpɔa ŋusẽ ɖe eƒe dzedzeme dzi ko o, ke melanin sia hã le vevie be míaƒe ŋkuwo nate ŋu awɔ dɔ nyuie.

Dzedzeme ƒe tɔtrɔ sia ate ŋu ado ŋukpe ame aɖewo vie, eye esɔ be ŋu nakpe wo vie ahatsi dzimaɖi be yewoadze ame bubu le hadome. Azɔ hã, ŋusẽ si wòkpɔna ɖe ŋkuwo dzi ate ŋu ana gbesiagbedɔwo wɔwɔ nasesẽ. Ate ŋu anye dziɖeleameƒo ŋutɔŋutɔ. Gake, akpa nyuitɔe nye be, atikewɔmɔnu aɖewo li siwo ate ŋu akpe ɖe ame ŋu be wòaɖe ŋusẽ si wòkpɔna ɖe ŋkuwo dzi le nɔnɔme sia me dzi akpɔtɔ.

Aleke nàwɔ anya ne albinism (OCA) le ŋuwò? Nukawoe nye dzesiawo?

Tsɔ kpe ɖe dzesi siwo nàte ŋu akpɔ le albinism (OCA) ƒe nɔnɔme sia me ŋu la, dzesi aɖewo hã li siwo ɖɔkta koe ate ŋu ade dzesii to dodokpɔ tɔxɛwo me. Na míalé ŋku ɖe nusiwo wonye ŋu.

Tɔtrɔ siwo wokpɔna le ŋutigbalẽ kple taɖa ŋu

Esiae nye albinism (OCA) ƒe dzesi si bɔ wu eye wokpɔnɛ bɔbɔe.

• Taɖa ƒe tɔtrɔ: Ame siwo ŋu albinism (OCA) le ƒe taɖa ate ŋu anye ɣie alo amadede ɣi/sika si me kɔ ŋutɔ. Esia bɔ ɖe ɖevi suewo koŋ me. Gake ne wole tsitsim, abe le ɖevime alo ƒewuiwo me ene la, woƒe ɖa ate ŋu adze amadede aɖe xɔxɔ. Ŋku ƒe ɖa, ŋkumeɖobolo, kple ŋutilã ƒe fu bubuwo hã ate ŋu anye ɣie alo anɔ keklẽm.
• Ŋutilã ƒe tɔtrɔ: Le albinism (OCA) ƒomevi si le ŋuwò nu la, wò ŋutigbalẽ ate ŋu azu ɣie ŋutɔ. Ame aɖewo ƒe ŋutigbalẽ ate ŋu anɔ keklẽm ale gbegbe be wòadze abe ɖe wòle keklẽm ene, si fia be ŋutigbalẽa ate ŋu anɔ tsɛ ŋutɔ eye wòadze. Ðewohĩ ame bubuwo ƒe ŋutigbalẽ ƒe amadede matrɔ vie le woƒe ɖevime o, gake woƒe ŋutigbalẽ ƒe amadede ate ŋu atrɔ vie ne wole tsitsim.

Dzesiwo kple vevesese si wokpɔna le ŋkuwo me

Albinism (OCA) hã ate ŋu ana ŋku ƒe amadede natrɔ ŋutɔ.

• Ne albinism (OCA) le ŋuwò la, wò ŋku ƒe ŋkume ate ŋu anye blɔ si me kɔ ŋutɔ/amadede ɣi si me kɔ ŋutɔ. Ɣeaɖewoɣi ne kekeli dze wò ŋkuwo dzi la, ŋkume ƒe ŋkume ate ŋu adze pink alo dzĩ. Amadede sia ate ŋu atrɔ le wò agbemeŋkekewo katã me hã. Gake albinism (OCA) ƒomevi aɖewo hã ate ŋu ana ŋku nazu blɔ.

Ŋku ƒe kuxi bubu siwo nàte ŋu ado goe dometɔ aɖewoe nye:

• Nukpɔkpɔ ƒe kuxiwo: Nukpɔkpɔ si me kɔ o, nukpɔkpɔ eve, alo nukpɔkpɔ sue.
• Fotovɔvɔ̃: Esia fia be esesẽna be nàna wò ŋkuwo nanɔ ʋuʋu ɖi na ɣe ƒe keklẽ alo akaɖi siwo le keklẽm, eye wò ŋkuwo zua blɔ.
• Tɔtrɔ siwo va le alesi ŋku eveawo wɔa dɔ ɖekae ŋu: Nɔnɔmewo abe strabismus, afisi ŋkuawo mefia mɔ ɖeka o, kple nusi wòsesẽna be woatsɔ nusiwo ŋku eveawo kpɔna aƒo ƒu wòazu nɔnɔmetata ɖeka (nu eve ƒe ŋkumekpɔkpɔ ƒe dɔmawɔmawɔ nyuie).
• Ŋku ƒe ʋuʋu kabakaba si dzi womeɖu o (Nystagmus): Esia ate ŋu ado dziku na ame ŋutɔ.
• Nukpɔkpɔ si me mekɔ o le ŋkua ƒe nɔnɔme ƒe tɔtrɔ ta (Refractive errors): Esɔ kple nɔnɔme siwo me wòhiã be woatsɔ ŋkumeɖonu ado ŋkumenuwoe.

Nusi ɖɔktaa kpɔna le ŋkudodokpɔ me

Ne èyi ŋkudɔdala gbɔ la, dzesi bubu aɖewo li siwo wòadi le dodokpɔa wɔɣi:

• Kplɔ̃ yibɔ (iris) si le wò ŋku me la le sue ale gbegbe be àte ŋu akpɔ kekeli wòato eme ne èdo wò ŋkuwo kpɔ.
• Tɔtrɔ ate ŋu ava wò ŋkume ƒe nɔnɔme me, si ate ŋu akpɔ ŋusẽ ɖe alesi wò ŋku wɔa dɔe dzi.
• Mɔnukpɔkpɔ gã aɖe li be tɔtrɔwo nava ŋkume ƒe lãmeka si doa ka kple ŋkuwo kple ahɔhɔ̃a ƒe wɔwɔme me. Esia ate ŋu akpɔ ŋusẽ ɖe alesi ahɔhɔ̃a wɔa nusiwo nèkpɔna kple alesi nèkpɔa xexeamee dzi.

Dzesi bubu siwo ate ŋu ado tso eme

Albinism (OCA) ƒomevi aɖewo, alo nɔnɔme bubu siwo hea dɔlélea vɛ ate ŋu ahe dzesi kple ŋusẽkpɔɖeamedzi tɔxɛ bubuwo vɛ. Kpɔɖeŋu aɖewoe nye:

• Susu ƒe nuwɔametɔnyenye
• Kɔkɔme trɔna
• Lãmetsiŋusẽ dzi ɖuɖu ƒe kuxiwo alo ʋuʋu ƒe kuxiwo

Gake dzesi bubuwo abe esiawo ene dzena le albinism (OCA) si mebɔ o wu me. Wò ɖɔkta ate ŋu aɖo aɖaŋu na wò nyuie wu le dzesi siwo wò (alo ɖevi si dzi nèkpɔna) ate ŋu ado goe ŋu.

Nukatae albinism (OCA) sia dzɔna?

Albinism (OCA) tsoa tɔtrɔ (trɔtrɔ) si va le míaƒe DNA me, si fia domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ si kpɔa ŋusẽ ɖe alesi míaƒe ŋutilã wɔa melanin dzi. Eyata, enye domenyiŋusẽfianu ƒe nɔnɔme. Mɔ eve li siwo dzi wòate ŋu ato adzɔ le:

• Domenyinu tso dzilawo gbɔ: Zi geɖe la, domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ (nutations) si ƒe dome wonyi tso dzilawo gbɔ gbɔe albinism (OCA) tsona. Wonyia nusiawo ƒe dome ɣesiaɣi le autosomal recessive mɔnu nu.Kpuie ko la, esia fia be ne ɖevia nyi domenyiŋusẽfianu si gblẽ la ƒe dome tso wo dada kple wo fofo siaa gbɔ ko hafi wòaxɔ nɔnɔme sia. Mesɔ gbɔ nenye be etso eveawo dometɔ ɖeka ko gbɔ o.
• Tɔtrɔ siwo dzɔna le vome le fugboea ƒe ɣeyiɣia me: Ɣeaɖewoɣi la, domenyiŋusẽfianu ƒe tɔtrɔ le vome ate ŋu adzɔ le vidzĩa ƒe agbe ƒe gɔmedzedze, ke menye esi ƒe dome wonyi tso dzilawo gbɔ o. Ðɔktawo menya nusita tututu nusia dzɔna o, eye womate ŋu agblɔe ɖi do ŋgɔ o.

Kuxi bubu kawoe albinism (OCA) ate ŋu ahe vɛ?

Abe alesi míedzro eme va yi ene la, melanin nye amadede si kpɔa ame ta. Míaƒe ŋutilã wɔae be wòaxɔ UV keklẽ si gblẽa nu le ame ŋu tso ɣea me. Esia tae zi geɖe la, amesiwo si albinism mele o ƒe ŋutigbalẽ biãna ne wodo go le ŋdɔ me. UV keklẽ sia gblẽa nu le DNA si le míaƒe ŋutigbalẽ me lãmenugbagbeviwo me ŋu. Nusiwo gblẽ sia nana ŋutigbalẽ me kansa ƒe afɔkua dzina ɖe edzi, vevietɔ basal cell carcinoma kple squamous cell carcinoma. Nusiwo UV keklẽŋusẽ gblẽna le ame ŋu la ƒoa ƒu, eyata zi alesi wògblẽa nu geɖee la, zi nenemae kansa xɔxɔ ƒe afɔkua dzina ɖe edzii. Melanin mesɔ gbɔ ɖe amesiwo ŋu albinism le o, eyata ele vevie be woakpɔ woƒe ŋutigbalẽ ta tso ŋdɔkutsu me.

Aleke ɖɔkta awɔ anya albinism (OCA) nyuie?

Ðɔkta ate ŋu asusu be OCA le ŋuwò ne wokpɔ tɔtrɔ le wò ŋutigbalẽ, taɖa, alo ŋkuwo ŋu. Zi geɖe la, wokpɔnɛ le eƒe ɖevime ŋutɔ. Ðeviwo ƒe dɔdalawoe nye ame gbãtɔ siwo kpena ɖe ame ŋu be woanya dɔlélea. Ðɔktawo ate ŋu azã mɔnu vovovowo atsɔ aɖo kpe OCA dzi eye woanya ƒomevi tɔxɛa.

Mɔnu mawo dometɔ aɖewoe nye:

• Ŋutilãmedodokpɔ
• Ʋudodokpɔwo
• Ŋku dodokpɔ
• Domenyiŋusẽfianu dodokpɔ
• Visual evoked potentials (VEP) dodokpɔ
• Tomography si wotsɔa ŋku wɔa nu ɖekae (OCT) .

Ðe atike aɖe li na albinism (OCA)a?

Ne míagblɔe tututu la, atike aɖeke meli na albinism (OCA) o. Gake atikewɔwɔ vovovowo li siwo ate ŋu akpe ɖe ame ŋu be woaɖe vevesese si dona tso nɔnɔmea me dzi akpɔtɔ.

Nusi koŋ ŋu amesiwo ŋu albinism (OCA) le ƒe susu nɔa ŋku ƒe dɔléle siwo do ƒome kplii, siwo dometɔ aɖewoe nye:

• Kuviatɔ ŋku (Amblyopia) .
• Atitsoga ƒe ŋku (Strabismus) .
• Vodada siwo dzɔna le nukpɔkpɔ me

Anɔ eme be wò ŋkudɔdala aɖo aɖaŋu na wò be nàdo ɣe ƒe ŋkumewu alo ŋkumeɖonu siwo ƒe amadede le vovovo be wòaɖe fotoɖeɖefia dzi akpɔtɔ eye wòakpɔ wò ŋkuwo ta tso ɣe ƒe keklẽ me.

Atike ɖeka koŋ li si woyɔna be nitisinone (si ƒe ŋkɔwoe nye Ntyr® alo Orfadin®). Wokpɔe be eɖea vi na amesiwo ŋu ŋkudɔ si nye oculocutaneous albinism type-1 le. Nitisinone wɔa dɔ to amino acid vevi aɖe si woyɔna be tyrosine ƒe gbagbã dzi ɖuɖu le míaƒe ŋutilã me. Numekuku aɖe si wowɔ le ƒe 2019 me ɖee fia be nitisinone kpe ɖe ame tsitsi atɔ̃ siwo ŋu albinism type-1 le ŋu be ŋutigbalẽ ƒe amadede nadze eye woƒe nukpɔkpɔ nyo ɖe edzi. Numekulawo xɔe se hã be ne wodze atike sia gɔme le woƒe ɖevime ate ŋu awɔ dɔ wu.

Ðo ŋku edzi be nu geɖe li siwo yia edzi le nyametsotso wɔwɔ le atikewɔwɔ ƒe mɔnuwo ŋu me, eyata wò ŋkuŋutinunyala koe ate ŋu ana nyatakaka wò tso atikewɔmɔnu nyuitɔwo ŋu na wò (kple viwòa). Eyae anye wò mɔfiala.

Aleke wòle be woanɔ agbe kple albinism (OCA)?

Oculocutaneous albinism (OCA) nye dɔléle si nɔa ame ƒe agbemeŋkekewo katã me. Nusiwo wògblẽna le ame ŋu ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ. Ame geɖe dea dzesi tɔtrɔ le woƒe ŋkuwo, taɖa, kple ŋutigbalẽ ŋu. Ame aɖewo dea dzesi tɔtrɔ siawo nyuie ŋutɔ, evɔ ame bubuwo ya made dzesii nenema gbegbe o.

Ame geɖe siwo ŋu albinism (OCA) le la doa go lãmesẽkuxi siwo do ƒome kple nɔnɔmea, vevietɔ ŋku ƒe kuxiwo. Ke hã, kuxi siwo ate ŋu ade ame ƒe agbe afɔku me alo esiwo ate ŋu ade ame ƒe agbe afɔku me la mebɔ o. Nu vevitɔe nye be woaxe mɔ na ŋutigbalẽ ƒe gbegblẽ le ɣe ƒe keklẽ kple UV keklẽŋusẽtsoƒe bubuwo ta.

Ne èwɔna ɖe wò ɖɔkta ƒe aɖaŋuɖoɖo dzi edziedzi eye nèléa be na wò ŋkuwo la, ame akpa gãtɔ siwo ŋu albinism (OCA) le ate ŋu anɔ agbe si sɔ abe ame bubu ɖesiaɖe ene. Zi geɖe la, nɔnɔmea mekpɔa ŋusẽ ɖe wò agbenɔƒe dzi o, vevietɔ ne èƒo asa na kuxiwo abe ŋutigbalẽ me kansa ene.

Ame bubuwo ate ŋu akpɔ Albinism (OCA) bɔbɔe, alo ate ŋu anye nusi medzena gaglãa nenema gbegbe o. Agbenɔnɔ kple nɔnɔme sia – eɖanye nusi wokpɔna alo womekpɔna o – ateŋu ahe kuxiwo vɛ. Ke hã, esiawo nye kuxi siwo ta nàte ŋu adi kpekpeɖeŋu le. Ne albinism (OCA) ƒe dzesiwo le wò alo ɖevi si dzi nèkpɔna ŋu la, anyo wu be nàyi ɖɔkta alo ŋkudɔdala gbɔ. Woate ŋu akpe ɖe ŋuwò nàse nɔnɔmea gɔme eye woakpe ɖe ŋuwò nàkpɔ atikewɔmɔnu kple dɔwɔnu siwo ate ŋu akpe ɖe ŋuwò.

Nu vevitɔ kekeake siwo dzi wòle be míaɖo ŋkui tso ŋutinya sia mee nye

Enyo, eyata nu aɖewo siwo wòle be wòanɔ susu me na mí tso nusiwo ŋu míeƒo nu tsoe egbea me lae nye esi:

• Oculocutaneous albinism (OCA) nye domenyiŋusẽfianu ƒe dɔléle. Enye nusi gblẽ le melanin, si nye amadede si naa amadede míaƒe ŋutigbalẽ, taɖa, kple ŋkuwo ƒe wɔwɔme alo emama ŋu.
• Esia nye agbemeŋkekewo katã ƒe nɔnɔme, gake woate ŋu akpɔ kuxi sesẽ siwo dona tso eme la gbɔ.
• Nu vevitɔe nye be nàkpɔ wò ŋutigbalẽ ta tso ŋdɔkutsu dzatsɛ me.Esi wònye be melanin si mesɔ gbɔ o fia be ŋutigbalẽ me kansa ate ŋu adze ame dzi wu ta la, ele vevie ŋutɔ be woado ɣe ƒe ŋkumewu, kposɔfu, awu legbe, kple ɣe ƒe keklẽŋusẽtike nyui aɖe.
• Ele be nàlé ŋku ɖe wò ŋkuwo hã ŋu etɔxɛe. Kpɔ ŋkudɔdala gbɔ edziedzi hena aɖaŋuɖoɖo.
• Enye nusi sɔ be nàlé blanui ahatsi dzimaɖi ɖe nɔnɔme sia ŋu. Mègavɔ̃ be yeabia kpekpeɖeŋu tso ɖɔkta, ƒometɔ, alo xɔlɔ̃ si dzi nèka ɖo gbɔ o.
• Ðo ŋku edzi be ne albinism (OCA) le ŋuwò hã la, àte ŋu anɔ agbe si me dzidzɔ le, si me dzidzedzekpɔkpɔ le abe ame bubu ɖesiaɖe ene!

Ne nya bubu aɖewo gale asiwò ku ɖe esia ŋu la, ƒo nu kple ɖɔkta aɖe godoo. Mègatsi dzi o, nusianu gbɔ kpɔnu li.

` Albinism, OCA, ŋutigbalẽdɔlélewo, ŋkudɔlélewo, domenyiŋusẽfianu ƒe dɔlélewo, melanin, ɣe ƒe ametakpɔkpɔ