Ðe wò ŋkuwo nye amadede wɔnuku aɖea? Ðe ŋku ƒe kuxiwo le fu ɖem na wòa? Ate ŋu anye ŋkume ƒe dɔléle si nye albinism!

Ède dzesii kpɔ be ame aɖewo ƒe ŋkuwo le keklẽm ŋutɔ, alo be woƒe ŋkuwo ƒe amadede to vovoa? Ate ŋu asesẽ na wo be woakpɔ ɣe, alo woƒe ŋkuwo gɔ̃ hã ate ŋu atsi. Susu ɖeka si tae ate ŋu anye nɔnɔme aɖe si woyɔna be ‘ocular albinism’, si ŋu míele nu ƒom tsoe egbea. Esia aɖi nya wɔnuku aɖe na wò, gake ele vevie ŋutɔ be nànya nu tso eŋu.

Nuka tututue nye ŋku ƒe dɔléle si nye ocular albinism, xɔ̃nye?

Kpuie ko la, ŋkume ƒe dɔléle nye albinism ƒomevi aɖe. Wò ŋkuwo koŋue wògblẽa nu le . Ne nɔnɔme sia le ŋuwò la, wò ŋkuwo ƒe amadede kple alesi wò ŋkuwo wɔa dɔe la kpɔa ŋusẽ ɖe edzi.

Bu eŋu kpɔ, nu tɔxɛ aɖe li si naa amadede míaƒe ŋkuwo, ŋutigbalẽ, kple taɖa, eye woyɔnae be melanin . Amadede sia si woyɔna be melanin gbɔe amadede siawo tsona. Menye ema ɖeɖeko o, ke melanin sia le vevie ŋutɔ be míaƒe ŋkuwo nate ŋu awɔ dɔ nyuie ahakpɔ nu nyuie. Eyata le amesi ŋu ŋkudɔ le gome la, melanin sia mewɔa dɔ nyuie le ŋutilãa me o, vevietɔ le ŋkua me, alo mekaka ɖe ŋku bliboa me nyuie o. Le esia ta la, ate ŋu agblẽ nu le lãkusi aɖewo siwo le ŋkua ƒe wɔwɔme me, si nye alesi wowɔa ŋkuae ŋu, eye kuxi bubuwo ate ŋu ado mo ɖa. Le ɣeyiɣi aɖe megbe la, esia ate ŋu ahe ŋku ƒe kuxiwo hã vɛ .

Nu vevitɔe nye be menye ɖeko melanin ƒe dɔe nye be wòana amadede ko o, ke ele vevie ŋutɔ na ŋkuwo ƒe dɔwɔwɔ nyuie hã.

Ðe esia ƒomevi aɖewo lia?

Ẽ, ŋkume ƒe dɔléle ƒomevi vevi eve li:

1. OA1: Wogayɔa esia be Nettleship-Falls OA.

2. OA2: Wogayɔa esia be Åland Ƒukpo dzi ŋkudɔ alo Forsius-Eriksson OA.

Esia nye domenyiŋusẽfianu ƒe nɔnɔme si mebɔ o. Ðewohĩ màte ŋu akpɔe tso gota be ele ye si o. Ke hã, ate ŋu akpɔ ŋusẽ gã aɖe ɖe ale si nèkpɔa xexeame dzi. Gɔmesese le eŋu be nàse le ɖokuiwò me be dziɖeleameƒo kple vɔvɔ̃ le nɔnɔme aɖe si me gotagome dzesi aɖeke mele o alo ʋɛ aɖewo koe le eŋu. Gake ŋkudɔdalawo kple lãmesẽdɔwɔla bubuwo ate ŋu akpe ɖe ŋuwò nàkpɔ atike nyuitɔ.

Nukae nye amesi ŋu ŋkudɔléle le ƒe dzesiwo?

Ame aɖewo siwo ŋu ŋku ƒe dɔléle le ate ŋu ƒe ŋkume ƒe ŋkume ƒe amadede nye blɔ alo aŋutiɖiɖi ŋutɔ. Gake ate ŋu adzɔ hã be ŋkuwo nanɔ blɔ. Eyata womate ŋu atsɔ ŋku ƒe amadede ɖeɖeko anya esia o.

Nu bubu siwo le ŋku ŋu koŋ ate ŋu anye:

• Nystagmus: Esia nye ŋkuwo ƒe ʋuʋu kabakaba, si dzi womeɖu o, abe ɖe wole ɣe ɖum ene. Esia ate ŋu ana wòasesẽ be wò susu nanɔ teƒe ɖeka.
• Amadede ƒe nukpɔkpɔ ƒe gbɔdzɔgbɔdzɔ alo amadede ƒe ŋkumaʋumaʋu: Mate ŋu ade vovototo amadedewo me nyuie o, alo amadede aɖewo kpɔkpɔ makpɔmakpɔ.
• Strabismus Kple Binocular Vision Dysfunction: Esia nyea ne ŋkuawo mefia mɔ ɖeka o, ke boŋ ŋku ɖeka trɔ ɖe mɔ bubu nu. Esia ate ŋu ana ame nakpɔ nu zi eve ( ŋku eve ƒe nukpɔkpɔ ƒe dɔmawɔmawɔ nyuie).
• Nukpɔkpɔ si me mekɔ o alo nukpɔkpɔ eve: Ŋutete si mele ame si be wòakpɔ nu nyuie o.
• Fotovɔvɔ̃: Ɣe ƒe keklẽ kple akaɖi siwo klẽna ƒe seselelãme si gbɔ eme . Ŋkuwo va zua blɔ eye womete ŋu nɔa te ɖe kekeli sue aɖe gɔ̃ hã nu o. Aɖatsi ate ŋu atso ŋkuwo me.
• Vodada siwo gblẽa nu le ŋkume: Esiawoe nana míedoa ŋkumeɖobolo. Le kpɔɖeŋu me, nuwo abe nukpɔkpɔ kpui kple nukpɔkpɔ si gbɔ eme ene.
• Nukpɔkpɔ sue: Ɣeaɖewoɣi la, esia ate ŋu asẽ ale gbegbe be wòana ame natsi ŋku le se nu, si fia be ŋku megakpɔa nu boo o ne wotsɔ ŋkumeɖobolo gɔ̃ hã.

Ðe esia gblẽa nu le ŋkuwo ko ŋua?

Zi geɖe la, ŋkume ƒe albinism gblẽa nu le ŋkuwo ŋu. Ke hã, dzesi ɖeka aɖe li si medo ƒome kple ŋkuwo o. Emae nye sensorineural tosese si dzea egɔme megbe . Abe alesi ŋkɔa ɖee fia ene la, esia wɔnɛ be ame ƒe to megasena nyuie hafi xɔa ƒe 50. Gake megblẽa nu le ame sia ame ŋu o.

Nukatae nɔnɔme sia dzɔna ɖo? Nukawoe nye susu siwo tae?

Ŋku ƒe Albinism nye domenyiŋusẽfianu ƒe dɔléle . Kpuie ko la, tɔtrɔ siwo va le míaƒe domenyiŋusẽfianu, alo DNA me gbɔe wòtsona. Domenyiŋusẽfianu ƒe tɔtrɔ siawo kpɔa ŋusẽ ɖe alesi míaƒe ŋutilã wɔa melanin alo emae dzi koŋ.

Mɔ eve li siwo dzi domenyiŋusẽfianu ƒe tɔtrɔ (nutations) siawo ate ŋu ato adzɔ le:

1. Domenyinu: Esia fia be ènyi domenyiŋusẽfianu ƒe tɔtrɔ sia ƒe dome tso dziwòla ŋutɔŋutɔwo dometɔ ɖeka alo wo ame evea siaa gbɔ. Woyɔa esia be autosomal recessive inheritance .

2. Sporadic - de novo: Esia fia be domenyiŋusẽfianu ƒe tɔtrɔ dzɔna le vome, de novo, le fugboe ƒe tsitsi me. Menye dzilawo gbɔe wònyi o.

Aleke ɖɔkta awɔ anya ŋkume ƒe dɔléle si nye ocular albinism pɛpɛpɛ? (Dɔléle ƒe dzesi) .

Ne ɖɔkta alo ŋkudɔdala aɖe do wò ŋkuwo kpɔ la, woate ŋu asusui be ŋkudɔléle le ŋuwò le tɔtrɔ aɖewo siwo woate ŋu akpɔ le wò ŋkuwo me ta. Le ema megbe la, wozãa mɔnu vovovowo tsɔ ɖoa ​​kpe edzi nenye be ŋkudɔe wònye vavã, kple eƒe ƒomevi kple eƒe ƒomevi sue.

Dzesi aɖewo siwo wò ŋkuŋutinunyala ate ŋu akpɔe nye esi:

• Iris ƒe keklẽ si trɔna:Transillumination nye kekeli ƒe zɔzɔ to wò ŋku ƒe ŋkume ƒe ŋkume doviviti la me. Le melanin ƒe anyimanɔmanɔ ta la, ŋkumeɖonu la va nɔa tsɛ, si wɔnɛ be kekeli te ŋu toa eme.
• Vovototo siwo le ŋku ƒe ŋkume ŋu: Ŋku ƒe dɔléle ate ŋu ana tɔtrɔ le wò ŋku ƒe akpa tɔxɛ aɖe ƒe nɔnɔme ŋu ɣeaɖewoɣi – ŋku ƒe akpa si kpena ɖe ŋuwò nèkpɔa nu – si woyɔna be fovea . Fovea nye afisi míekpɔa nuwo le nyuie ŋutɔ. Eyata tɔtrɔ siawo ate ŋu akpɔ ŋusẽ ɖe alesi ŋku ƒe ŋkume ƒe dɔwɔwɔ wɔa dɔe dzi.
• Vovototo le lãmekawo ƒe wɔwɔme me: Ne ŋku ƒe dɔléle le ŋuwò la, anɔ eme be ŋku ƒe lãmeka , si doa ka kple wò ŋkuwo kple wò ahɔhɔ̃ la ƒe wɔwɔme nato vovo. Vovototo siawo ate ŋu akpɔ ŋusẽ ɖe ale si wò ahɔhɔ̃ wɔa dɔ tso nukpɔkpɔ ƒe dzesiwo ŋu kple ale si nèkpɔa xexeame dzi.

Tsɔ kpe ɖe esia ŋu la, dodokpɔ bubuwo li siwo ate ŋu akpe ɖe ame ŋu wòanya ŋkume ƒe dɔléle si nye ocular albinism:

• Ʋudodokpɔwo
• Domenyiŋusẽfianu dodokpɔ
• Visual evoked potentials (VEP) dodokpɔ
• Optical coherence tomography (OCT) ƒe fotoɖeɖe
• Slit akaɖi dodokpɔ

Le go aɖewo me la, dodokpɔ na ɖevi si ŋu ŋkudɔ le dzila ɖeka alo wo ame evea siaa ate ŋu akpe ɖe ame ŋu wòanya ŋkumedɔléle ƒomevi si le ɖevia ŋu.

Ðe woate ŋu ada ŋkume ƒe dɔléle si nye albinism keŋkeŋa?

Ao, womate ŋu adae keŋkeŋ o. Ŋku ƒe Albinism nye domenyiŋusẽfianu ƒe dɔléle. Esia fia be tɔtrɔ siwo va le míaƒe DNA me gbɔe wòtso. Eyata womate ŋu ada domenyiŋusẽfianu ƒe nɔnɔme si gbɔ wòtso o.

Gake, vevietɔ wu la, woateŋu ada ŋku ƒe dɔléle ƒe ŋusẽkpɔɖeamedzi ɖe ŋkuwo dzi – abe refractive errors alo strabismus ene – ƒe akpa gãtɔ. Dɔdamɔnu siawo ate ŋu akpe ɖe ŋuwò be nàkpɔ nu nyuie wu, gake wometrɔa domenyiŋusẽfianu ƒe dɔléle si le eme o.

Eɖanye ŋkudɔ ka ƒomevie le ŋuwò o, eye nuka kee wògblẽna o, wò ŋkudɔdala ate ŋu ana nyatakaka nyuitɔ kekeake wò tso atike siwo nàte ŋu azã ŋu.

Nya vevi kawoe wòle be míabia ɖɔktaa?

Anyo be nàbia wò ɖɔkta alo ŋkuŋutinunyala nya siawo abe esiawo ene:

• Ŋku ƒe dɔléle ka ƒomevie le ŋunye?
• Ðe esia nye nusi ƒe dome menyia?
• Ðe vinye ŋutɔŋutɔwo ate ŋu anyi esia ƒe dome tso gbɔnyea?
• Atikewɔwɔ kawoe nèkafu?
• Ðe dɔwɔnu bubuwo li (e.g., kpekpeɖeŋunahawo, hehenananuwo) siwo ate ŋu akpe ɖe ŋunyea?

Nukae nàkpɔ mɔ na ne ŋkudɔ le ŋuwò?

Ŋku ƒe Albinism nye dɔléle si nɔa ame ƒe agbemeŋkekewo katã me. Ke hã, zi geɖe la, ate ŋu anye "nɔnɔme si womekpɔna o" si gotagome xexeame mekpɔna o. Ame geɖe menya be dɔlélea le yewo ŋu o vaseɖe esime wodo ŋku kpɔ eye wokpɔ tɔtrɔwo le yewoƒe ŋkuwo me. Ame siwo ŋu dɔlélea le ate ŋu akpɔ nu nyuie tso esiwo nu mesẽ o dzi va ɖo esiwo nu sẽ ŋutɔ dzi .

Ame siwo ŋu ŋkudɔ le hiã ŋkuléle ɖe wo ŋu ɣesiaɣi le woƒe agbemeŋkekewo katã me. Eye, ɣeaɖewoɣi la, dzilawo ate ŋu akpɔe be yewoe nye domenyiŋusẽfianu ƒe tɔtrɔ siwo hea esia vɛ ne yewo vi va zu dɔlélea ƒe dzesiwo.

Ŋku ƒe dɔléle si le ame ŋu ate ŋu akpɔ ŋusẽ ɖe alesi nèkpɔa xexeame dzi, gake mehiã be wòaxe mɔ na wò be mànɔ agbe abe alesi nèdi ene o.

Atikewɔwɔ aɖewo li siwo ate ŋu akpe ɖe ŋuwò nàɖe wò dzesiwo dzi akpɔtɔ alo akpɔ wo gbɔ eye nànɔ agbe kple nɔnɔme sia ƒe nugbegblẽwo. Ŋkudodokpɔ edziedzi hã ate ŋu akpe ɖe ŋuwò be wò ŋkuwo nanɔ lãmesẽ me.

Ne ŋkudɔ le ŋuwò alo viwòa ŋu la, ɖewohĩ ahiã be nàʋli ɖokuiwò ta be nunɔamesiwo kple mɔnukpɔkpɔ siwo nèhiã la nasu asiwò. Ðo dze kple wò ɖɔkta alo ŋkuŋutinunyala. Woate ŋu ana mɔfiame kple kpekpeɖeŋu wò. Àte ŋu akpɔ kpekpeɖeŋu le Internet dzi habɔbɔwo hã me na amesiwo ŋu ŋkudɔ le be wòakpe ɖe ŋuwò nàtrɔ ɖe wò nɔnɔmea ŋu eye nànɔ agbe si nèdi. Mègatsi dzi o, menye wò ɖeka koe o.

Nukae nye gbedasi si míedi be míatsɔ ayi aƒemee tso esia me?

Enyo, eyata fifia èse nusi ŋu míeƒo nu tsoe egbea gɔme nyuie wu, si nye Ocular Albinism. Nu vevi aɖewo siwo dzi wòle be woaɖo ŋkui lae nye esi:

• Ŋku ƒe Albinism nye domenyiŋusẽfianu ƒe dɔléle si tsoa melanin ƒe anyimanɔmanɔ le ŋkuwo me gbɔ. Esia ate ŋu akpɔ ŋusẽ ɖe nukpɔkpɔ kple ŋku ƒe amadede dzi.
• Esia ƒe dzesiwo ate ŋu ato vovo. Nuwo ate ŋu anɔ anyi abe ŋku ƒe ʋuʋu (nystagmus), kekeli ƒe seselelãme (fotophobia), kple nukpɔkpɔ ƒe ɖiɖi.
• Togbɔ be womate ŋu adae keŋkeŋ o hã la, atikewɔmɔnu aɖewo li siwo dzi woato akpɔ dzesiawo gbɔ ahakpɔ nu nyuie wu.
• Ŋkudodokpɔ edziedzi kple atikewɔlawo ƒe aɖaŋuɖoɖo hiã vevie.
• Ne dɔléle sia le ŋuwò alo viwòa ŋu la, mègatsi dzodzodzoe o. Ne èna kpekpeɖeŋu kple nyatakaka nyuitɔ la, àte ŋu anɔ agbe kplii nyuie.

Ne nya bubu aɖewo gale asiwò ku ɖe esia ŋu la, kpɔ egbɔ be yeƒo nu kple wò ɖɔkta. Nɔ lãmesẽ me!

` Ŋku ƒe Albinism, Ŋku ƒe Albinism, Ŋkudɔléle, Nukpɔkpɔ ƒe Dɔmawɔmawɔ nyuie, Melanin, Domenyiŋusẽfianu ƒe Dɔléle, Ŋku ƒe Lãmesẽ