Yu de si di wɔl bak wit blak ɛn wayt? Lɛ wi tɔk bɔt Achromatopsia

Yu dɔn ɛva tink bɔt aw i go tan lɛk fɔ si di wɔl wit blak, wayt, ɛn grey we nɔ gɛt ɛni kɔlɔ? Fɔ sɔm pipul dɛn, dis na rial ɛkspiriɛns. Tide wi go tɔk bɔt wan pan dɛn kayn prɔblɛm ya we nɔ bɔku bɔt we impɔtant fɔ si. Dɛn kɔl dis akromatɔpsia. Nɔ wɔri, lɛ wi ɔndastand dis simpul wan.

Wetin na Akromatɔpsia?

Fɔ tɔk am simpul wan, achromatopsia na wan sik we dɛn bɔn wit, we gɛt jɛnɛtiks na di yay. Di men tin we de insay dis na dat di ebul fɔ no di kɔlɔ dɛn nɔ bɔku. Bɔrku tɛm, dis sik nɔr kin wɔs as tɛm de go, dat min se de sik nɔr kin wɔs. Wan we, dat na rilif, nɔto so? Imajin, di fayn fayn flawa dɛn we gɛt kɔlɔ, di blu skay, di sɛvin kɔlɔ dɛn we di renbo gɛt we wi ɔl de si, dɛn pipul ya nɔ de si dɛn di sem we. Aw dat go afɛkt dɛn layf ɛvride?

Yu tink se kayn tin dɛn de we kin apin to dis?

Yɛs, tu men kayn akromatɔpsia de:

• Komplit Achromatopsia: Insay dis, di vishכn de kכmplit wan pan blak, wayt, εn grey. Dɛn de si di wɔl lɛk se na ol blak ɛn wayt fim.
• Achromatopsia we nɔ kɔmplit: Na ya, pan ɔl we yu kin si di kɔlɔ dɛn te to sɔm mak, dɛn kin rili fayn ɛn dɛn kin tan lɛk se dɛn dɔn fayn. Lɛk pikchɔ we dɔn fade smɔl. I nɔ kin izi bak fɔ no difrɛn kɔlɔ dɛn frɔm dɛnsɛf.

Wetin na di difrɛns bitwin Achromatopsia ɛn Kɔlɔ Blayndnɛs?

Sɔm pipul dɛn kin tink se dɛn tu tin ya na di sem. Bɔt fɔ tru, big difrɛns de bitwin dɛn tu. Pɔsin we gɛt kɔlɔ blaynd kin gɛt gud vishɔn, we min se i kin si tin klia wan. Dɛn kin jɔs gɛt prɔblɛm fɔ no difrɛn kɔlɔ dɛn, mɔ rɛd ɛn grɛn. Dɛn kin si kɔlɔ dɛn te to sɔm mak. Bɔt pan di kes fɔ achromatopsia , di tin kin kɔmplikt smɔl. Apat frɔm we dɛn nɔ de si kɔlɔ ɔ si dɛn fayn fayn wan, dɛn nɔ de si bak. Dis min se tin kin tan lɛk se dɛn nɔ klia. Dɛn kin gɛt ɔda prɔblɛm dɛn bak we dɛn kin si, lɛk we dɛn yay kin muv kwik kwik wan (nystagmus). Dis kin mek i nɔ izi fɔ dɛn fɔ du wetin dɛn de du ɛvride.

Fɔ tɔk am simpul wan, if kɔlɔ blayndnɛs tan lɛk prɔblɛm wit kɔlɔ filta, dat min se achromatopsia tan lɛk bɔku smɔl prɔblɛm dɛn wit di wan ol kamɛra.

Aw i go mɔs bi se a go gɛt dis sik?

Achromatopsia na sɔntin we kɔmɔt frɔm ɛriti, dat na frɔm jin.If pɔsin na yu famili, ilɛksɛf na yu mama ɔ papa in sayd, gɛt dis sik, yusɛf gɛt chans fɔ gɛt am. sכmtεm if di tu say dεm na yu famili (yu mama εn papa in sayd) gεt dis jεnεtik inflכεns, di chans fכ pikin fכ gεt dis kכndyushכn na bכt wan pan fכ (1/4). Dis nɔ min se ɔl pikin go gɛt am, bɔt i gɛt prɔblɛm.

Wetin na di tin dɛn we kin mek pɔsin gɛt Achromatopsia?

As wi bin dɔn tɔk bifo tɛm, dis na sik we pɔsin kin gɛt we i gɛt prɔblɛm wit in jɛnɛtiks . Na di bak pat na wi yay, wan pat de we de mek layt we dɛn kɔl di retina . I tan lɛk di fim we de insay kamɛra. dis rεtina gεt spεshal kayn sεl dεm we de no layt εn kכla. Dɛn kɔl dɛn tin ya foto rɛsɛptɔ . dis sεl dεm de sεnd infכmeshכn to di bren, se, "Na so sכmtin lεk dis de." Tu men kayn foto rεsεptor sεl dεm de:

• Kɔn: Na dɛn sɛl ya de ɛp wi fɔ no di kɔlɔ dɛn. na dεn sεl dεm bak we de εp wi fכ si klia wan pan brayt layt (lεk insay di de). Tink bɔt dɛm as di "kɔlɔ ɛkspɛkt dɛm" na wi yay.
• Rod sel dεm: dεn ya de εp wi fכ si tin klia wan na lכw layt kכndishכn, i.e. na dak. Dɛn nɔ rili sabi fɔ no di kɔlɔ dɛn. Dɛn tan lɛk pipul dɛn we de wach na nɛt.

Wetin kin apin to pɔsin we gɛt akromatɔpsia na dat di kɔn sɛl dɛn nɔ de wok fayn.

• Pɔsin we gɛt kɔmplit achromatopsia in vishɔn de dipen ɔl pan di wok we di stik dɛn de du. Na dat mek dɛn nɔ ebul fɔ si kɔlɔ.
• pan pכsin we gεt akromatopsia we nכ kכmplit, di kכn sεl dεm de wok bak to sכm tεm wit di rod sεl dεm. Na dat mek dɛn kin si kɔlɔ dɛn we dɔn fade smɔl.

Naw, siks jin dεm de we dεn no we de afekt dis kכndyushכn. di mכtεshכn dεm na dεn jin dεm ya de afekt di wok we di kכn sεl dεm de du.

Wetin na di sayn dɛm fɔ Achromatopsia?

Pɔsin wae gɛt dis sik kin gɛt difrɛn kayn sayn dɛm. Nɔto ɔlman go gɛt dɛn ɔl, bɔt na dɛn wan ya we kɔmɔn pas ɔl:

• Scotomas : Lεk dak spat dεm na sכm εria dεm we yu de si.
• Blurred vision, possibly wit astigmatism : Tin dεm nכ de sho klia wan.
• Kɔlɔ blayndnɛs: Nɔ ebul ɔ i nɔ ebul fɔ no di kɔlɔ dɛn.
• Fɔ si tin dɛn we de fa pasmak.
• Fɔtofobia: Dɛn kin si am bad bad wan fɔ luk tin dɛn lɛk san layt ɛn brayt layt.
• Myopia/We pɔsin de si nia.
• I nɔ de si fayn ɔ i nɔ de si fayn.
• di yay we de muv kwik kwik wan we dεn nכ de kכntro (Nystagmus): Dis kin afekt dεn yay bak.

Ustɛm di sayn dɛn kin sho pan yɔŋ pikin dɛn?

Bɔrku tɛm, dɛn kin si fotophobia insay di fɔs mɔnt dɛn we pɔsin de liv. Dis min se di pikin go swɛt, kray, ɔ kray we i gɛt brayt layt. Sɔm kayn sik lɛk fɔ si fayn ɛn fɔ blaynd kɔlɔ kin de bak dis tɛm. Bɔt sɔntɛnde, mama ɛn papa dɛn kin jɔs notis dɛn tin ya we dɛn pikin dɔn big smɔl, sɔntɛm afta sɔm ia. Dis na bikɔs pikin nɔ kin ebul fɔ tɛl dɛn se dɛn nɔ kin si kɔlɔ we dɛn yɔŋ.

Aw dɛn kin no se pɔsin gɛt Achromatopsia?

Na wan dɔktɔ we de mɛn yu yay kin no bɔt dis sik . We yu ɔ yu pikin go to dɔktɔ, di fɔs tin we dɛn go du na fɔ aks bɔt yu famili mɛdikal histri (ɛni ɔda pɔsin bin gɛt dis sik) ɛn yu sayn dɛm. We dɛn de du di ay ɛgzam, di retina kin tan lɛk se i nɔmal. So, dɛn kin du ɔda tɛst fɔ no if pɔsin gɛt di sik. Sɔm pan dɛn na:

• Kɔlɔ vishɔn tɛst: I de mɛzhɔ yu ebul fɔ difrɛns difrɛn kɔlɔ dɛn.
• Fundus autofluorescence: dεn de yuz blu layt fכ egzamin di rεtina tisu insay di yay.
• Ophthalmic electrophysiology tests: Assess aw yu yay ɛn di nerves we gɛt kɔnekshɔn to dɛn de ansa to layt.
• Wan pat pan dis na di ilɛktrɔrɛtinografi (ERG) . Dis de mכsu di ilektrikal rispכns we di kכn sεl dεm εn di rod dεm de gi to layt. Dis na wetin de mek wi ebul fɔ no ustɛm di kɔn sɛl dɛn de wok.
• Optical coherence tomography (OCT): dis de tek kכros-sekshכnal imej dεm fכ di rεtina, we lεk skan .
• Visual field testing: Dis kin chɛk if yu gɛt blaynd spat ɛn if na so, aw dɛn big.

If dɛn tɛst ya tan lɛk se dɛn kɔmplikt smɔl, nɔ wɔri. Dɔktɔ dɛn kin du dɛn tɛst ya fɔ no di rayt kɔndishɔn fɔ yu sik ɛn gi yu di bɛst advays we yu nid.

Tritmɛnt de fɔ achromatopsia?

I sɔri fɔ no se naw, no kɔmplit mɛrɛsin nɔ de fɔ di sik we dɛn kɔl achromatopsia.Dat min se dɛn nɔ dɔn fɛn ɛni mɛrɛsin ɔ ɔpreshɔn yet fɔ pul dis.

Bɔt, dat nɔr min se pɔrsin wae gɛt dis sik nɔr kin ebul fɔ liv gud layf. Atɔl!

Ivin wit dis kכndyushכn, dεn kin liv indipεndεnt layf bay wae dεn de yuz dεn vishכn to di fulest, mεnεj dεn simptom dεm wit soshal sכpכt. Di tin we impɔtant pas ɔl na fɔ ɔndastand dɛn kɔndishɔn ɛn ajɔst dɛn layf akɔdin to dat. Tritmɛnt kin mɔs pe atɛnshɔn pan tin dɛm wae de ɛp fɔ kɔntrol de sik ɛn mek layf izi.

Speshal glas dɛn

Bɔku tɛm , dɛn kin gi lens dɛn we gɛt dak tint as tritmɛnt. Dɛn lens dɛn ya kin filta layt wev dɛn we kin ambɔg pɔsin. Dis kin ɛp fɔ ridyus di fotophobia. Sɔm glas dɛn gɛt freym dɛn we de go te to di sayd dɛn na di yes fɔ mek dɛn kɔba am fayn fayn wan. Sɔm kin gɛt shild bak pan dɛn. Dɛn tin ya tan lɛk sanglas, bɔt dɛn spɛshal mɔ.

Low vision therapy

Dis na tin bak we rili impɔtant. Dis trenin de tich dɛn aw fɔ du ɛvride wok sef wan ɛn izi wan. Fɔ ɛgzampul:

• Aw fɔ rid buk ɛn dɔkyumɛnt dɛn izi wan bay we yu de yuz ilɛktronik tin dɛn we de mek pɔsin big .
• Aw fɔ travul sef wan yuz lɔng wayt ken we yu de travul na say dɛn we yu nɔ no.
• Aw fɔ tek tɛm wach di envayrɔmɛnt we de rawnd ɛn no di bad tin dɛn we kin mek pɔsin fɔdɔm.
• Aw fɔ yus fɔ yuz pɔblik transpɔt if yu nɔ ebul fɔ drayv motoka.
• Aw fɔ yuz tin dɛn we gɛt ay kɔntrast. Fɔ ɛgzampul, i kin izi fɔ dɛn fɔ si tin dɛn lɛk blak ink pan wayt pepa.

If dɛn tren dɛn lɛk dis, dɛn kin ebul fɔ liv dɛn layf fɔ dɛnsɛf.

Yu tink se dɛn kin mek dɛn nɔ gɛt Achromatopsia?

Bikɔs na tin we pɔsin kin gɛt we i kam pan jɛnɛtiks, natin nɔ de we wi go rili du fɔ mek i nɔ gɛt am. Dat min se wi nɔ go ebul fɔ stɔp am fɔ divɛlɔp tru di it we wi de it ɔ di tin dɛn we wi de du. Bɔt if di sik de rɔn na ɔl tu di say dɛn na yu famili, we min se yu tink se yu go gɛt chans fɔ pas di jin to yu pikin dɛn, yu kin tink bɔt fɔ du tɛst fɔ yu jɛnɛtiks . Di rizɔlt fɔ da tɛst de go tɛl yu aw i go bi se yu pikin dɛn go gɛt dis sik. Dis kin impɔtant we yu de plan fɔ famili.

Wetin na de luk fɔ pipul dɛm wae gɛt Achromatopsia?

Pan ɔl we dis kin mek yu fil bad, di prɔgnosis fɔ pipul dɛm wae gɛt achromatopsia kin rili fayn.

• Pikin dɛn: Bɔku tɛm, dɛn pikin ya kin go skul ɔltɛm.Achromatopsia nɔto sɔntin we pɔsin kin lan. Bɔt dɛn kin nid sɔm ɛp fɔ mek dɛn ebul fɔ win di prɔblɛm dɛn we dɛn kin si (e.g., fɔ mek di tɛks big na buk, fɔ mek di layt dɛn nɔ de shayn). If ticha ɛn mama ɛn papa dɛn no bɔt dis, natin nɔ de we go mek di pikin gɛt gud edyukeshɔn.
• Big pipul dɛm: Bɔku tɛm, big pipul dɛm we gɛt achromatopsia kin liv fɔ dɛnsɛf. Dɛn kin nid sɔm sɔpɔt we dɛn go kɔntinyu fɔ ajɔst to di say we dɛn de ɛn di tin dɛn we dɛn de du ɛvride. Bɔt dɛn kin ebul fɔ ol wok ɛn wok na sosayti.

Di tin we impɔtant pas ɔl na fɔ gi dɛn di sɔpɔt, ɔndastandin, ɛn di tin dɛn we dɛn nid.

Impɔtant tin fɔ no we yu de liv wit Achromatopsia

Bɔrku prɔsis ɛn we de fɔ ɛp pɔrsin wae de liv wit dis sik fɔ mek i nɔr gɛt bɛtɛ sef, fɔ gɛt kɔmfɔt, ɛn fɔ gɛt in indipɛndɛns.

Fɔ pripia di say we di os de:

• Arenjmɛnt fɔ di fɔnicha: Arenj di fɔnicha dɛn na di os so dat i go gɛt bɔku ples ɛn so dat i nɔ go bang dɛnsɛf we yu de muf.
• Tik kɔtin: Put tik kɔtin na di winda dɛn na yu os. Dis go ɛp fɔ kɔntrol di natura layt we de kam insay di os. Dɛn nɔ kin fil fayn wit brayt layt.
• Ridyus glare: Put wan kayn `Matte paint` pan sɔfays lɛk wɔl. Dis go mek di layt we de kam na di yay nɔ bɔku we di layt hit am.
• Ɔganayz tin dɛn: Ɔganayz yu os so dat i go izi fɔ fɛn impɔtant tin dɛn. Sɔntɛm yu kin put lɛbl dɛn wit big ɛn klia lɛta dɛn.

Di tin dɛn we yu kin du ɛvride:

• Nɔ yuz brayt layt: Tray fɔ avɔyd fɔ go na do insay di de, mɔ we di san de shayn brayt brayt wan. If yu go na do, wɛr sanglas ɛn hat.
• Skrin rida: We yu de luk di skrin fɔ ilɛktronik tin dɛn lɛk kɔmpyuta ɛn fon, i kin at bikɔs ɔf di brayt layt. If na so i bi, yu kin yuz teknɔlɔjik divays dɛn lɛk ``Screen reader``. Dɛn wan ya kin rid wetin de insay di skrin.
• Visual asistive technology: Fɔ ɛgzampul, wan `Scanner` de we yu kin ol na yu an we kin tɛl yu di kɔlɔ fɔ sɔntin. Divays dɛn lɛk dis kin rili yusful fɔ dɛn.
• Wear hat: Wear hat we gɛt brim we yu de go na do, mɔ we di san de shayn. Dis go mek di layt we de na yu yay dairekt wan nɔ bɔku.

Fɔ dɔn, wetin fɔ no

Achromatopsia na wan sik we nɔ kin apin we pɔsin bɔn wit we kin afɛkt di ebul fɔ difrɛns di kɔlɔ ɛn di kwaliti we pɔsin de si. Sɔmtɛm de sik kin tranga ɛn kin ambɔg ɛvride layf.

Bɔt mɛmba se if yu ɔndastand gud gud wan, yu wɛr spɛshal glas, tren yu fɔ si smɔl , ɛn di wan dɛn we yu lɛk de sɔpɔt yu, ivin pɔsin we gɛt dis sik go mɔs liv in yon layf we gɛt minin.

If yu ɔ pɔsin we yu sabi gɛt dɛn sik ya, i go fayn fɔ mek yu go to ay dɔktɔ wantɛm wantɛm fɔ advays. No nid fɔ fred ɔ shem. Di kwik we yu no am, na di mɔ yu go ebul fɔ gɛt ɛp kwik kwik wan. Achromatopsia, kכla vishכn, vishכn pwεl, jεnεtik sik dεm, rεtina, kכn sεl dεm, rod sεl dεm