Yu kin fil bak se yu vishɔn de wɔs na nɛt? Ɔ yu periferik vishɔn, dat na, yu vishɔn to di sayd dɛm, de wɔs smɔl smɔl? Sɔmtɛm wi nɔr kin pe atɛnshɔn to dɛn tin ya, bɔt dɛn kin bi sayn fɔ wan siriɔs ɔndalayn kɔndishɔn. Tide wi go tɔk bɔt wan sik we nɔ kin bɔku, bɔt we rili impɔtant fɔ no, we kin mek pɔsin nɔ de si fayn smɔl smɔl ɛn ivin mek pɔsin blaynd. Dɛn kɔl dis choroideremia.
Wetin na dis choroideremia?
Fɔ tɔk am simpul wan, Choroideremia na wan sik we nɔ kin bɔku, we pɔsin kin gɛt frɔm in yay, we kin pas tru di jin dɛn. I kin mek di tu yay dɛn nɔ de si fayn smɔl smɔl, ɛn leta i kin mek pɔsin blaynd. Bɔku tɛm dis sik kin ambɔg man dɛn bad bad wan.
yu kin yeri bכt כda yay sik we dεn kכl `(Retinitis Pigmentosa).` I kin mek bak di rεtina wik sכmtεm. I sɔprayz fɔ no se di sayn dɛm ɛn sɔm tɛst rizɔlt dɛm fɔ ɔl tu di sik dɛm, `(Choroideremia)` ɛn `(Retinitis Pigmentosa), kin bi di sem. fכ dat, di bεst we fכ no εksεkshכn uswan pan dεn tu sik ya yu gεt na fכ gεt `(jεnεtik tεst).`
Wetin kin apin insay di yay? Aw dis kin afɛkt di we aw pɔsin de si?
Wi yay dɛn tan lɛk wɔndaful kamɛra dɛn. Insay di yay, wan pat de we dɛn kɔl di retina . dis na di say we spεshal sεl dεm we dεn kכl f כto rεsεptor sεl dεm de we kin no layt. Dɛn sɛl ya kin tek di layt we de go insay di yay ɛn chenj am to ilɛktrik signal. afta dat dεn kin sεnd dεn signal dεm ya to di bren along di optik nεv . Di bren de yuz dɛn sayn dɛn ya fɔ mek di pikchɔ dɛn we wi de si.
Naw, biɛn dis retina, bitwin di wayt we de protɛkt di yay (sclera) ɛn di retina, wan layt de we dɛn kɔl di choroid . dis choroid na di say we di retina de gεt in it, dat min se i gεt bכdi vεsul dεm we de gi am bכdi. Tink bɔt am lɛk fɔ gi wata ɛn tin fɔ it to plant.
Insay di choroideremia, di blɔd vesel dɛn na di choroid kin pwɛl. Dɔn, di retina nɔ kin gɛt bɛtɛ blɔd, so i kin bigin fɔ pwɛl bak. Dis kin afɛkt di we aw wi de si di say we wi de si mɔ .
Aw kɔmɔn tin na Choroideremia?
Dis na sik we nɔ kin apin so ɔltɛm. Fɔ tɔk smɔl, dɛn se na wan pan ɛvri 100,000 ɔ wan pan ɛvri 50,000 pipul dɛn nɔmɔ kin gɛt dis sik . Dis min se ivin na wi kɔntri, i kin bi se na smɔl pipul dɛn we gɛt dis sik.
Wetin na di sayn dɛm fɔ dis sik? Si if yu gɛt dɛn tin ya bak.
Di sayn dɛm fɔ choroideremia nɔ kin apin wantɛm wantɛm. Dɛn kin divɛlɔp smɔl smɔl. Na sɔm pan di men sayn dɛm wae de sho se yu gɛt dis sik:
- Nayt blayndnɛs (nayt blayndnɛs) na wan pan di fɔs sayn dɛm. Sɔntɛnde dis sik kin apin pan pikin dɛn we nɔ rich 10 ia yet.Imajin, ivin na say we nɔ gɛt layt ɛn ɔda pipul dɛn kin si fayn, dɛn pipul ya nɔ kin ebul fɔ si fayn.
- Wik periferik vishɔn. Dis min se we yu luk stret bifo, yu nɔ go ebul fɔ si tin dɛn na di sayd dɛn. I kin fil lɛk se yu de luk tru wan tanɛl.
- Di we aw pɔsin kin si tin kin go dɔŋ. Di ebul fɔ si tin klia wan ɛn shap shap kin go dɔŋ. I kin at fɔ rid lɛta dɛn ɛn no difrɛns bitwin tin dɛn we de fa.
- Nɔ ebul fɔ no di kɔlɔ dɛn fayn fayn wan. Di we aw di kɔlɔ dɛn de sho kin chenj. Sɔm kɔlɔ dɛn kin ivin at fɔ no.
- Smɔl smɔl, di sayd vishɔn kin lɔs kpatakpata, ɛn dis kin mek pɔsin blaynd. fכs, di sayd vishכn de rεdכks, as tεm de go na di sεntri vishכn nכmכ de rεst, εn fכs, komplit vishכn kin lכs.
Impɔtant: If yu gɛt wan ɔ mɔ pan dɛn sik ya, nɔ tink se na choroideremia. Bɔt i rili impɔtant fɔ go to dɔktɔ we de mɛn yu yay wantɛm wantɛm fɔ mek dɛn chɛk yu.
Wetin mek Choroideremia kin apin? Yu tink se na frɔm dɛn gret gret granpa dɛn?
Yɛs, lɛk aw wi bin dɔn tɔk bifo tɛm, Choroideremia na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Fɔ tɔk di kɔrɛkt tin, na wan sik we dɛn kɔl X-linked genetic disorder.
Wi ɔl gɛt tin dɛn we dɛn kɔl kromozom insay wi sɛl dɛn. Dɛn kromozom ya gɛt wi jin dɛn. di uman dεm gεt tu X kromozom dεm (XX). Man dεm gεt wan X kromozom εn wan Y kromozom (XY).
di difεktiv jin we de mek di choroideremia de na di X kromozom.
Naw, ivin if uman gɛt wan X kromozom wit dis jin we nɔ fayn, if di ɔda X kromozom wɛl, i go mɔs bi se i nɔ go gɛt bɔku ɛfɛkt. fכ dat, uman dεm we gεt dis difεktiv jin (`carriers`) nכ kin sכfa bad bad wan wit choroideremia lεk man dεm. Bɔt dɛn kin gɛt sɔm sayn dɛn bak lɛk fɔ blaynd na nɛt as dɛn de ol. Bɔt, pɔsin we blaynd ɔltin nɔ kin apin so ɔltɛm.
Bɔt na wan X kromozom nɔmɔ man dɛn gɛt. So, if dεn gεt dis jin we nכ de wok fayn na da X kromozom de, dεn kin gεt choroideremia.
Wan man we gɛt dis sik kin pas in X kromozom we nɔ fayn to in gyal pikin dɛn . Dɔn dɛn gyal pikin dɛn de kin bi pipul dɛn we de kɛr di sik. dεn kכriכg gyal pikin dεm gεt 50% (wan pan tu) chans fכ pas di difεktiv X kromozom to dεn pikin dεm.
Aw dɛn kin no se pɔsin gɛt Choroideremia? Us tɛst dɛn dɛn kin du?
If yu gɛt ɛni wan pan di sayn dɛn we wi dɔn tɔk bɔt, yu fɔ rili go to dɔktɔ we de mɛn yu yay. I go chɛk yu yay gud gud wan. Apat frɔm we yu de chɛk yu yay ɔltɛm, dɛn kin aks yu fɔ du sɔm spɛshal tɛst dɛn lɛk:
- Ilɛktrorɛtinogram (ERG): Dis tɛst de sho aw yu retina de ansa we layt de. Pan ɔl we i kin tan lɛk se na kɔmplikɛt tɛst, fɔ tru, i nɔ kin rili pen. Dɛn kin put smɔl smɔl ilɛktrɔd dɛn na yu fes, rawnd yu yay, ɛn na yu skel. Dɔn, dɛn kin put wan waya we rili tan (sɔntɛm na lens) dairekt insay yu yay, jɔs ɔp yu aylid we de dɔŋ. Dɔn dɛn kin dak di rum ɛn dɛn kin shayn difrɛn layt dɛn na yu yay fɔ si aw di sɛl dɛn na yu retina de wok. Dis kin gi yu valyu tin bɔt aw yu retina de wok.
- Optical Coherence Tomography (OCT): Dis na tɛst bak we nɔ de mek pɔsin fil pen, we nɔ de ambɔg pɔsin. I tan lɛk we dɛn de skan di insay pat na yu yay. I de yuz spɛshal layt bim fɔ tek krɔs-sekshɔn pikchɔ dɛn fɔ di insay pat pan yu yay, mɔ di retina ɛn di choroid. Dis kin sho klia wan aw dɛn layers ya tik ɛn ɛni damej we dɛn go dɔn mek.
- Fluorescein Angiography: Insay dis tɛst, dɛn kin put spɛshal day insay wan vein na yu an. As di day de travul tru di blɔd vesel dɛn na yu yay, wan spɛshal kamɛra de tek pikchɔ dɛn insay yu yay. Dis kin ɛp fɔ si aw di blɔd vesel dɛn de na di choroid ɛn retina, lɛk if dɛn dɔn pwɛl ɔ if dɛn de blɔd.
- Jɛnɛtik tɛst: Dis na di we we pɔsin kin abop pan fɔ no difrɛns bitwin Choroideremia ɛn ɔda sik dɛn we gɛt di sem kayn sayn, lɛk Retinitis Pigmentosa. Dis min se yu fɔ tek wan sɛmpul frɔm yu blɔd, yu ia, yu skin, tisu, ɔ sɔm tɛm dɛn kin gɛt amniotic fluid frɔm yu pikin we de na di bɛlɛ, ɛn tɛst di jin dɛn we de insay. Dis kin ɛp fɔ no if yu gɛt muteshon na di jin we de mek Choroideremia.
Yu tink se tritmɛnt de fɔ Choroideremia?
Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ mek pɔsin gɛt di sik we dɛn kɔl choroideremia. Dis kin mek yu fil bad, bɔt dat na nɔmal tin.
Bɔt, dat nɔ min se wi nɔ go ebul fɔ du ɛnitin. Pan ɔl we wi nɔ go ebul fɔ mɛn di sik, wi kin trit ɔda prɔblɛm dɛn we di sik kin kam wit. Fɔ ɛgzampul:
- Strateji dɛm wae yu nɔr de si fayn: As yu de si smɔl smɔl, difrɛn difrɛn tin dɛm de wae kin ɛp fɔ du ɛvride woke. Sɔm ɛgzampul dɛn na magnifying glas, spɛshal tin dɛn fɔ layt, ɛn wach dɛn we de tɔk.
- Kɔnsul fɔ mental wɛlbɔdi:Fɔ liv wit dis kayn sik wae nɔr kin mɛn kin tranga yu maynd, so e fayn fɔ aks fɔ ɛp frɔm saykayatrist ɔr advaysa.
- Jɛnɛtik kɔyl: Bikɔs dis na jɛnɛtik sik, jɛnɛtik kɔyl kin rili fayn fɔ mek ɔda pipul dɛn na di famili no bɔt dis ɛn fɔ ɔndastand aw i kin afɛkt di jɛnɛreshɔn dɛn we gɛt fɔ kam.
Us kayn fiuja pɔsin we gɛt Choroideremia gɛt?
Tipikli, pɔrsin wae gɛt choroideremia go lɔs in periferik vishɔn as tɛm de go. As tɛm de go, na di sɛntral vishɔn nɔmɔ kin lɛf. Afta dat, sɔm pipul dɛn kin blaynd kpatakpata. Dis kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Sɔm pipul dɛn nɔ kin si am igen as tɛm de go, ɛn ɔda wan dɛn nɔ kin si am igen as tɛm de go.
Nɔ mek yu at pwɛl bikɔs ɔf dis. Mɛdikal sayɛns de go bifo ɛvride. Dɛn de fɛn nyu risach ɛn nyu tritmɛnt dɛn ɔltɛm.
Aw a kin kia fɔ misɛf?
Ivin if dɛn dɔn no se yu gɛt choroideremia, tin dɛn de we yu kin du fɔ kia fɔ yusɛf fayn fayn wan. Fɔ mek yu gɛt wɛl bɔdi layf rili impɔtant, ivin wit dis sik.
- It gud it we gɛt fayn fayn tin dɛn fɔ it. It mɔ grɛn vɛjitebul, frut, ɛn mit we nɔ gɛt bɛtɛ trɛnk. Ridyus di sɔl we pasmak, shuga, ɛn fat we nɔ fayn as yu ebul.
- Gɛt ɛksesaiz we go du fɔ yu. Ivin sɔntin we simpul lɛk fɔ waka ɛvride, fayn.
- If yu de smok, stɔp. Smok nɔ jɔs bad fɔ yu yay, bɔt i bad fɔ yu wan ol bɔdi.
- Si yu yay dɔktɔ ɔltɛm fɔ mek dɛn chɛk yu yay. Da we de, yu kin lan bɔt aw yu sik de ɛn di nyu tritmɛnt dɛn.
- Gɛt inof slip.
Ustɛm a fɔ go to dɔktɔ?
If yu notis ɛni chenj na yu yay, lɛk we yu nɔ de si fayn na nɛt, yu nɔ de si fayn, ɔ yu nɔ de si fayn, go to dɔktɔ wantɛm wantɛm. Ɛspɛshali if yu gɛt chenj dɛn we yu de si wantɛm wantɛm ɔ yu yay de pen, dis kin bi mɛdikal imejensi.
Dɔn bak, if i nɔ izi fɔ yu fɔ du di tin dɛn we yu kin du ɛvride, tɔk to yu dɔktɔ bɔt dat bak. I kin fayn fɔ aks if yu fit fɔ tek pat pan tin dɛn lɛk jin tɛrapi trial .
Wetin na di difrɛns bitwin Choroideremia ɛn Gyrate Atrophy na di Choroid ɛn Retina?
Dɛn tu sik ya na tin dɛn we pɔsin kin gɛt frɔm in jɛnɛtiks. De sayn dɛm kin bi di sem tin. Bɔt, klia difrɛns de bitwin dɛn tu.
- Inhɛritɛshɔn patɛn: Choroideremia na wan sik we gɛt fɔ du wit X. dis min se i de inhεrit tru di X kromozom. Gyrate Atrophy of the Choroid and Retina na wan sik we de mek pɔsin nɔ gɛt di sik . Dis min se fɔ mek di pikin gɛt di sik, i fɔ gɛt di jin we nɔ fayn frɔm di mama ɛn papa.
- Mutated gene: Di jin mutation we de mek ɔl tu di sik dɛn difrɛn bak.
Di impɔtant tin dɛn we wi nid fɔ lan frɔm dis (Take-Home Message) .
Na tru se choroideremia na sik we nɔ kin apin so ɔltɛm, we nɔ kin mɛn, we kin mek pɔsin nɔ de si fayn smɔl smɔl ɛn ivin blaynd. Na nɔmal tin fɔ gɛt miks filin we yu kam fɔ no se yu gɛt dis kayn sik.
Bɔt mɛmba se nɔto yu wangren de. Mek yu gɛt strɔng padi biznɛs wit yu mɛdikal tim. Dɛn de de fɔ sɔpɔt yu. Risach de go bifo fɔ fɛn tritmɛnt ɛn mɛrɛsin fɔ choroideremia, ɛn ɔda sik dɛn we pɔsin kin gɛt we i kam pan jɛnɛtiks. Ɛn tin dɛn ɛn savis dɛn dɔn ɔlrɛdi de we go ɛp yu wit wetin yu nid. If yu gri fɔ lɛ ɔda pipul dɛn ɛp yu, dat kin mek yu layf izi smɔl.
Gɛt op ɔltɛm. We di sayɛns bɔt mɛrɛsin dɔn go bifo, nyu tritmɛnt dɛn kin kam tumara bambay.
` Choroideremia, yay sik, vishɔn lɔs, jɛnɛtik sik, nɛt blayndnɛs, retina, choroid, X-linked, jɛnɛtik tɛst, blayndnɛs











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