Ukhathazekile yini ngamehlo engane yakho? Ake sifunde nge-Leber's Congenital Amaurosis (LCA)?

Uma ubheka amehlo engane yakho encane, ngezinye izikhathi ungase uzibuze ukuthi ibona izinto kahle noma kukhona okungahambi kahle ekuboneni kwayo. Ikakhulukazi njengoba ezinye izingane zizalwa zinezinkinga ezithile zokubona. Lesi simo esingavamile kodwa esibalulekile sibizwa ngokuthi i-Leber congenital amaurosis. Ake sixoxe ngakho ngokuningiliziwe, akunjalo?

Kuyini i-Leiber Congenital Amaurosis (LCA)?

Kalula nje, i-Leber congenital amaurosis, noma i-LCA ngamafuphi, iyisimo esingavamile kakhulu. Sithinta i-retina, ungqimba lwangaphakathi lweso, ezinganeni. Cabanga nge-retina njengefilimu ekhamera. Izinto esizibonayo ziqoshwa lapha njengesithombe. I-retina iqukethe amaseli akhethekile kakhulu, esiwabiza ngokuthi ama-photoreceptors . Kunezinhlobo ezimbili zamaseli, ama-rod nama -cone . Ama-rod asisiza sibone ebusuku nasebumnyameni. Ama-cone asisiza sibone imibala futhi sibone ngokucacile emini.

Okwenzeka enganeni ene-`(LCA)` ukuthi amaseli e-`(rod)` kanye ne-`(cones)` awasebenzi kahle. Okusho ukuthi, la maseli awakwazi ukuthumela kahle ukukhanya okungena esweni njengesignali kagesi ebuchosheni. Njengoba lo msebenzi kagesi uncipha, umbono wengane nawo uyancipha. Ngezinye izikhathi, uma kungekho msebenzi kagesi nhlobo, ingane ingase ingakwazi ukubona nhlobo.

Lesi yisimo sokuzalwa, okusho ukuthi izingane zizalwa naso. Odokotela bathi umbono wengane uvame ukuqala ukwehla kancane kancane cishe ezinyangeni eziyisithupha ubudala . Ngakho-ke, uma ubona noma yiziphi izinguquko emehlweni engane yakho, noma uma uzizwa sengathi ayikwazi ukubona izinto, kungcono ukubona uchwepheshe wamehlo ngokushesha okukhulu.

Kuvamile kangakanani lesi simo (LCA)?

Manje ungase uzibuze ukuthi lesi simo sivame kangakanani. Empeleni asivamile kakhulu . Kubikwa ukuthi senzeka ezinganeni ezimbili kuphela kwabayi-100,000. Lelo inani eliphansi kakhulu. Kodwa-ke, naphezu kokuba singavamile, sitholakale njengenye yezimbangela eziphambili zobumpumputhe ezinganeni ezincane. Ngakho-ke, yize singavamile, kubalulekile ukuqaphela lokhu.

Yiziphi izimpawu zomntwana one-(LCA)?

Ngezinye izikhathi kungaba nzima ngabazali ukuqaphela ukuthi ingane encane inenkinga yokubona. Ngoba ayikhulumi. Kodwa-ke, ingane ene-`(LCA)` ayiboni kahle, futhi ngezinye izikhathi ayinawo nhlobo umbono. Njengoba lesi simo sithinta izingane ezingaphansi konyaka owodwa ubudala, kunezimpawu ezithile ezingakusiza ukuqaphela.

Esinye sezibonakaliso zokuqala ongase uzibone ukuthi ingane yakho ihlala ihlikihla amehlo ayo, njengokungathi kukhona okuyiphazamisayo. Bangase babe ne-photophobia (ukuzonda ukukhanya) . Lokhu kusho ukuthi bangase bavule amehlo noma bakhale lapho bebona ukukhanya noma beya endaweni ekhanyayo. Enye into ukuthi ungase uqaphele ukuthi ingane yakhoAmehlo ahamba ngokushesha emuva naphambili (`nystagmus`) sengathi awakwazi ukugcina amehlo awo endaweni eyodwa. Kufana nokuthi ayathuthumela.

Ungabona futhi lezi zici:

• I-Keratoconus yisimo lapho i-cornea yeso ishintsha khona isimo, ibe yi-cone. Lokhu kuyinkimbinkimbi kancane, futhi udokotela kuphela ongakutshela ngokuqinisekile.
• Ukubona kude (hyperopia).
• Indlela inhlamvu yeso esabela ngayo ekukhanyeni incane kakhulu, noma ayincane nhlobo. Uyabona, ngokuvamile uma usuka endaweni ekhanyayo uye endaweni emnyama, inhlamvu yeso iba nkulu. Akuyona indlela esebenza ngayo leyo.

Uma ubona into efana nale, ungesabi bese ubona udokotela. Bazokutshela kahle ukuthi kwenzekani.

Kungani lesi simo (LCA) senzeka?

Manje ake sibone ukuthi kungani lokhu `(LCA)` kwenzeka. Isizathu esiyinhloko salokhu izinguquko zofuzo, okungukuthi `(ukuguqulwa kofuzo)` . Uyazi ukuthi zonke izici zethu zinqunywa izakhi zofuzo (`izakhi zofuzo`) esizithola kumama nobaba bethu. Lawa ma-gene ayizingxenye ezincane ze -`DNA` yethu. Ngakho-ke, lapho umntwana ezalwa, uma kukhona ushintsho noma iphutha kuma-gene eqandeni likamama (`iqanda`) kanye nesidoda sikababa (`isidoda`), singadluliselwa nasenganeni.

Cishe izinhlobo ezingu-30 zokuguqulwa kwezakhi zofuzo ezihlukene ziye zatholakala ezingabangela lesi simo, `(LCA). Ikakhulukazi, izinguquko kwezakhi zofuzo ezisiza i-retina ukuthi ikhule futhi ikhule ziyathinteka. Ukubala ezimbalwa, izakhi zofuzo ezifana ne-`(CEP290)`, `(CRB1)`, `(GUCY2D)`, `(RPE65)` ziphakathi kwazo.

Esikhathini esiningi, i-`(LCA)` iyisimo se -`autosomal recessive` . Uyazi ukuthi kuyini lokho? Lokho kusho ukuthi ingane izoqala lesi sifo kuphela uma bobabili abazali bephethe isakhi sofuzo esinephutha (`isakhi sofuzo esishintshiwe`). Bobabili kumele babe ngabathwali. Kodwa-ke, bobabili akudingeki babe nezimpawu. Bangaba nempilo enhle, kodwa bangaba nesakhi sofuzo esinephutha emzimbeni wabo. Uma lokho kwenzeka, cishe kunethuba elingama-25% lokuthi ingane ezelwe kubo izoqala lesi simo.

Cabanga nje, uma bobabili abazali bengabathwali balesi sakhi sofuzo esingenasici, ekukhulelweni kwabo ngakunye, ingane inethuba eliyi-1/4 lokuthuthukisa i-LCA, ithuba eliyi-1/2 lokuba ingane ibe yithwali, kanye nethuba eliyi-1/4 lokuthi ingane izalwe ingathintekile.

Abantu abaningi abazi ukuthi banesici sokugoba kwe-autosomal ngoba abanazo izimpawu. Uma unelungu lomndeni elinesifo sofuzo, noma uma ukhathazekile ngokuthi izingane zakho zingase zibe nesifo sofuzo, kubalulekile ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo .

Odokotela bakuthola kanjani lokhu (LCA)?

Ukuze wazi ngokuqinisekile ukuthi ingane yakho ine-`(LCA)` noma cha, udinga ukubona udokotela wamehlo. Uzoqala ahlole amehlo engane ngokucophelela, kufaka phakathi i-`retina` engaphakathi kweso. Bese kuba yi-`electroretinography (ERG)`Lokhu kuhlolwa kulinganisa umsebenzi kagesi ku-retina yengane. Khumbula, sikhulume ngaphambilini ngokuthi lo msebenzi kagesi ubaluleke kangakanani ekuboneni. Ngezinye izikhathi ukuskena okubizwa ngokuthi i-'optical coherence tomography (OCT)' nakho kungenziwa. Lokhu kungathatha isithombe esicacile sezingqimba ezingaphakathi kweso.

Udokotela uzoqinisekisa nokuthi azikho ezinye izimo ezingathinta amehlo engane. Lokhu sikubiza ngokuthi 'ukuxilongwa okuhlukile' . Ngoba kunezinye izimbangela ezingathinta umbono. Isibonelo:

• `I-Retinitis pigmentosa` (lesi futhi yisimo esithinta i-retina)
• 'I-Joubert syndrome'
• 'I-Zellweger syndrome'
• Ubumpumputhe bombala (`achromatopsia`)
• Ijwabu leso eligobile (i-ptosis)

Kungemva kokubheka konke lokhu kuphela lapho udokotela angaphetha khona ngokunembile ukuthi `(LCA)`.

Yiziphi izindlela zokwelapha (i-LCA)?

Eqinisweni, okwamanje alikho ikhambi lalesi simo `(LCA)`. Kodwa ungakhathazeki. Odokotela bazama ukuthuthukisa ukubona kwengane futhi bayisize iphile kahle ngangokunokwenzeka. Lokhu kuvame ukwenziwa kusetshenziswa izibuko . Kukhona futhi amadivayisi anjenge -`magnifying glasses` noma i-`reading prisms` angasiza labo abangaboni kahle.

Ake sifunde nangokwelashwa kwezakhi zofuzo.

Lokhu kusha kancane. Ngo-2017, i-US Food and Drug Administration (FDA) yavuma ukwelashwa kokuqala kwezakhi zofuzo ukwelapha lesi simo (LCA). Lokhu kuyathembisa ngempela. Kodwa-ke, lokhu kwelashwa okwamanje kuvunyelwe kuphela kubantu (LCA) ababangelwa ukuguqulwa kwezakhi zofuzo okuthiwa i-RPE65 .

Kalula nje, ukwelashwa ngezakhi zofuzo kuyinqubo yokufaka esikhundleni sezakhi zofuzo ezibangela isifo ngezakhi zofuzo ezinempilo. Noma, ukuvala i-gene ebangela isifo. Ithemba liwukufaka i-gene enempilo emaseli bese kuguqulwa lesi sifo. Nakuba lokhu kuseyindlela yokwelapha esekelwe ocwaningweni, kungaba yisisombululo esihle sezimo ezifana ne-`(LCA)` esikhathini esizayo.

Udokotela wamehlo uzokutshela ukuthi ngabe lokhu kwelashwa kwezakhi zofuzo kuyamfanele yini umntwana wakho noma cha.

Ingabe i-LCA ingavinjelwa?

Eqinisweni, uma ingane izuza ifa lokuguquka kwezakhi zofuzo okubangela `(LCA)`, ayikho indlela yokukuvimbela. Akuyona into esingayilawula. Kodwa-ke, njengoba ngishilo ngaphambili, uma unokungabaza noma ukwesaba ngezifo zezakhi zofuzo, kungcono ukuthola ukwelulekwa kwezakhi zofuzo ngaphambi kokuba nomntwana noma ngesikhathi sokukhulelwa. Khona-ke ungathola ukuqonda okucacile ngezingozi.

Yini engingayilindela uma ingane yami ine-(LCA)?

Kuvamile ukuzizwa udabuke kakhulu futhi wesaba lapho uthola ukuthi ingane yakho ine-`(LCA)`. Izingane eziningi ezine-`(LCA)` zingase zilahlekelwe umbono wazo ngokuphelele noma zinciphe kakhulu. Kuyiqiniso lokho.

Kodwa, lokho akusho ukuthi ingane yakho ngeke iphile impilo ejabulisayo nenempilo. Ingane yakho izodinga ukuhlolwa kwamehlo njalo ukuze kuhlolwe noma yiziphi izinguquko emehlweni ayo noma ukuze kubonakale ukuthi umbono wayo uya ngokuya uba mubi yini. Udokotela wakho uzokutshela ukuthi kufanele wenze lezi zivivinyo kangaki.

Into ebaluleke kakhulu ukunikeza ingane yakho ukwesekwa nothando eludingayo. Unendima enkulu okufanele uyidlale ekuyifundiseni ukuphila nombono ophansi nokuyikhuthaza. Futhi, bheka izikhungo nezikole ezisiza izingane ezinjalo. Kuzoba usizo olukhulu ekwenzeni ikusasa labo liphumelele.

Kufanele ngimbone nini udokotela?

Ngizokukhumbuza futhi: Uma ubona noma yini engavamile emehlweni engane yakho, noma uma uzizwa sengathi ayikwazi ukubona, bonana nodokotela wamehlo ngokushesha.

Uma usuvele wazi ukuthi ingane yakho inayo (i-LCA), futhi ubona ushintsho ekuboneni kwayo noma izimpawu eziya ziba zimbi kakhulu, bona udokotela ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma siya kudokotela, ngezinye izikhathi siyakhohlwa lokho esifuna ukukubuza. Ngakho-ke, nansi eminye imibuzo engakusiza:

• Ingabe ingane yami ine-'Leber's congenital amaurosis (LCA)' ngempela?
• Yikuphi ukuguquka kwezakhi zofuzo okubangele lokhu? (Uma kungatholakala)
• Yiziphi ezinye izivivinyo engizidingayo kumntwana wami?
• Kungenzeka kangakanani ukuthi alahlekelwe umbono wakhe?
• Ingabe ingane yami ifanelekile ukwelashwa ngezakhi zofuzo?

Kuzobaluleka kakhulu ukuthi uzwe futhi wazi izinto ezinjengalezi.

Ingabe kukhona ukuxhumana phakathi kwe-LCA kanye ne-Autism Spectrum Disorder?

Lokhu kuyinkinga nakwabanye abazali. `(LCA)` kanye `Autism Spectrum Disorder (ASD)` yizimo ezimbili ezithinta ukukhula kwengane. `(LCA)` ithinta i-retina yamehlo, `(ASD)` iyi-`neurodevelopmental disorder``.

Ezinye izifundo zithole ukuthi kukhona ukuxhumana phakathi kwezingane ezine-LCA kanye ne-ASD. Kodwa-ke, lokhu akusho ukuthi zonke izingane ezine-LCA zizoba ne-ASD. Uma ufuna ukwazi okwengeziwe ngalokhu, kungcono ukukhuluma nodokotela wakho.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ake ngikutshele ezinye zezinto ezibaluleke kakhulu esikhulume ngazo ukuze zikusize uzikhumbule.

I-Leber's congenital amaurosis (LCA) yisimo esingavamile sofuzo esingabangela ukulahlekelwa umbono ezinganeni ngoba amangqamuzana ase-retina yawo awasebenzi kahle.

Uma ingane yakho itholakale ine-(LCA), cishe izolahlekelwa umbono wayo. Kodwa lokho akusho ukuthi ayikwazi ukuphila impilo ejabulisayo nenempilo.

Lokhu kungenxa yezinguquko zofuzo. Uma unemibuzo noma ukungabaza ngalokhu, kubaluleke kakhulu ukuthola iseluleko sofuzo.

Into ebaluleke kakhulu ukubona udokotela wamehlo ngokushesha nje lapho ubona noma yiziphi izinguquko emehlweni engane yakho.Ngemuva kwalokho ungathola ukwelashwa okudingekayo kanye nokusekelwa ngokushesha. Udokotela wakho uzokuchazela konke, okuhlanganisa nokuthi ingane yakho idinga ukuhlolwa amehlo kangaki nokuthi yini ongayenza ukuze uvikele ukubona kwayo.

Khumbula, awuwedwa. Kukhona odokotela, abeluleki, namaqembu okusekelana ukuze akusize kulolu hambo.

I- Leiber congenital amaurosis, i-LCA, ubumpumputhe bezinsana, i-retina, ukuguquka kwezakhi zofuzo, ukulahlekelwa umbono, izifo zamehlo