Ngaba ukhathazekile malunga nokubona komntwana wakho omncinci? Masifunde ngeLeber's Congenital Amaurosis (LCA)?

Xa ujonga amehlo omntwana wakho omncinci, ngamanye amaxesha unokuzibuza ukuba ubona izinto kakuhle na okanye kukho into engalunganga ekuboneni kwakhe. Ingakumbi kuba abanye abantwana bazalwa benokukhubazeka kokubona. Le meko ingaqhelekanga kodwa ibalulekileyo ibizwa ngokuba yi-Leber congenital amaurosis. Makhe sithethe ngayo ngokweenkcukacha, akunjalo?

Yintoni iLeiber Congenital Amaurosis (LCA)?

Ngamafutshane, i-Leber congenital amaurosis, okanye i-LCA ngamafutshane, yimeko engaqhelekanga kakhulu. Ichaphazela i-retina, umaleko wangaphakathi weliso, kwiintsana. Cinga nge-retina njengefilimu ekwikhamera. Izinto esizibonayo zirekhodwa apha njengomfanekiso. I-retina ineeseli ezikhethekileyo kakhulu, esizibiza ngokuba zii-photoreceptors . Kukho iintlobo ezimbini zeeseli, ii-rods kunye nee-cones . Ii-rods zisinceda sibone ebusuku nasebumnyameni. Ii-cones zisinceda sibone imibala kwaye sibone ngokucacileyo emini.

Okwenzekayo kumntwana one-`(LCA)` kukuba iiseli ze-`(rods)` kunye ne-`(cones)` azisebenzi kakuhle. Oko kukuthi, ezi seli azikwazi ukuthumela ngokufanelekileyo ukukhanya okungena elisweni njengomqondiso wombane engqondweni. Njengoko lo msebenzi wombane uncipha, umbono womntwana nawo uyancipha. Ngamanye amaxesha, ukuba akukho msebenzi wombane konke konke, umntwana usenokungakwazi ukubona konke konke.

Le yimeko yokuzalwa, nto leyo ethetha ukuba abantwana bazalwa nayo. Oogqirha bathi umbono womntwana udla ngokuqala ukuwohloka kancinci kancinci malunga neenyanga ezi-6 ubudala . Ngoko ke, ukuba ubona naluphi na utshintsho emehlweni omntwana wakho, okanye ukuba uziva ngathi akaziboni izinto, kungcono ukubona ingcali yamehlo ngokukhawuleza.

Ixhaphake kangakanani le meko (LCA)?

Ngoku usenokuba uzibuza ukuba le meko ixhaphake kangakanani. Enyanisweni ayiqhelekanga kakhulu . Kubikwa ukuba iyenzeka kwiintsana ezimbini kuphela kwi-100,000. Elo linani liphantsi kakhulu. Nangona ingaqhelekanga, ichongiwe njengenye yezona zinto ziphambili zokuba yimfama ebantwaneni abancinci. Ngoko ke, nangona ingaqhelekanga, kubalulekile ukuyiqonda le nto.

Zithini iimpawu zomntwana one-(LCA)?

Ngamanye amaxesha kunokuba nzima kubazali ukuqaphela ukuba umntwana omncinci unengxaki yokubona. Kuba abathethi. Nangona kunjalo, umntwana one-`(LCA)` ubona kakubi kakhulu, kwaye ngamanye amaxesha akaboni kwaphela. Ekubeni le meko ichaphazela abantwana abangaphantsi konyaka omnye ubudala, kukho iimpawu ezithile ezinokukunceda uyiqonde.

Enye yeempawu zokuqala onokuzibona kukuba umntwana wakho uhlala ehlikihla amehlo akhe, ngokungathi kukho into emkhathazayo. Basenokuba ne-photophobia (ukungathandi ukukhanya) . Oku kuthetha ukuba banokukrwitsha okanye bakhale xa bebona ukukhanya okanye besiya kwindawo ekhanyayo. Enye into kukuba ungaqaphela ukuba umntwana wakhoAmehlo ahamba ngokukhawuleza ngokungathi awakwazi ukugcina amehlo awo kwindawo enye (nystagmus). Kufana nokuba ayangcangcazela.

Ungazibona ezi mpawu:

• I-Keratoconus yimeko apho i-cornea yeliso itshintsha imo, ibe yi-cone. Oku kunzima kancinci, kwaye ngugqirha kuphela onokukuxelela ngokuqinisekileyo.
• Ukubona kude (hyperopia).
• Indlela iliso elisabela ngayo ekukhanyeni incinci kakhulu, okanye ayibonakali konke konke. Uyabona, ngesiqhelo xa usuka kwindawo ekhanyayo uye kwindawo emnyama, iliso liya likhula. Akunjalo.

Ukuba ubona into efana nale, ungoyiki uye kugqirha. Baza kukuxelela kanye ukuba kwenzeka ntoni.

Kutheni le meko (LCA) isenzeka?

Ngoku masibone ukuba kutheni le `(LCA)` isenzeka. Isizathu esiphambili soku kukutshintsha kwezakhi zofuzo, oko kukuthi `(utshintsho lwezakhi zofuzo)` . Uyazi ukuba zonke iimpawu zethu zimiselwa ziizakhi zofuzo (`iigene`) esizifumana kumama notata wethu. Ezi zakhi zofuzo ziyinxalenye encinci ye`DNA` yethu. Ngoko ke, xa umntwana ezalwa, ukuba kukho naluphi na utshintsho okanye isiphene kwiizakhi zofuzo kwiqanda likamama (`iqanda`) kunye nembewu katata (`imbewu`), inokudluliselwa nakumntwana.

Kuye kwachongwa phantse iinguqu zezakhi zofuzo ezingama-30 ezahlukeneyo ezinokubangela le meko, `(LCA). Ngokukodwa, iinguqu kwizakhi zofuzo ezinceda i-retina ukuba ikhule kwaye ikhule ziyachaphazeleka. Ukubala ezimbalwa, iizakhi zofuzo ezifana ne `(CEP290)`, `(CRB1)`, `(GUCY2D)`, `(RPE65)` ziphakathi kwazo.

Ixesha elininzi, `(LCA)` yimeko ye -`autosomal recessive` . Uyazi ukuba yintoni leyo? Oko kuthetha ukuba umntwana uza kuba nesi sifo kuphela ukuba bobabini abazali bane-gene enesiphene (`gene eguquliweyo`). Bobabini kufuneka babe ngabathwali. Nangona kunjalo, bobabini akufuneki babe neempawu. Banokuba sempilweni, kodwa banokuba ne-gene enesiphene emizimbeni yabo. Ukuba oko kuyenzeka, kukho umngcipheko we-25% wokuba umntwana ozelwe kubo uza kuba nale meko.

Khawucinge nje, ukuba bobabini abazali bathwala esi sigulo segazi esingalunganga, ngexesha ngalinye lokukhulelwa kwabo, umntwana unethuba eliyi-1/4 lokufumana i-LCA, ithuba eliyi-1/2 lomntwana lokuba abe ngumbelethisi, kunye nethuba eliyi-1/4 lokuzalwa komntwana engachaphazeleki.

Abantu abaninzi abazi ukuba baneempawu ze-autosomal recessive kuba abanazo iimpawu. Ukuba unelungu losapho elinengxaki yemfuza, okanye ukuba ukhathazekile ukuba abantwana bakho banokuba nengxaki yemfuza, kubalulekile ukuthetha nogqirha wakho malunga neengcebiso zemfuza .

Oogqirha bayixilonga njani le meko (LCA)?

Ukuze wazi ngokuqinisekileyo ukuba umntwana wakho une-`(LCA)` okanye akunjalo, kufuneka ubone ugqirha wamehlo. Uza kuqala ahlole amehlo omntwana ngononophelo, kuquka ne-`retina` engaphakathi kweliso. Emva koko, i-`electroretinography (ERG)`Olu vavanyo lulinganisa umsebenzi wombane kwi-retina yomntwana. Khumbula, sithethe ngaphambili malunga nokuba lo msebenzi wombane ubaluleke kangakanani ekuboneni. Ngamanye amaxesha iskeni ebizwa ngokuba yi-'optical coherence tomography (OCT)' nayo inokwenziwa. Oku kungathatha umfanekiso ocacileyo weengqimba ezingaphakathi kweliso.

Ugqirha uya kuqinisekisa ukuba akukho zimbi iimeko ezinokuchaphazela amehlo omntwana. Oku sikubiza ngokuba yi -'differential diagnosis' . Kuba kukho ezinye izizathu ezinokuchaphazela umbono. Umzekelo:

• `I-Retinitis pigmentosa` (le yimeko echaphazela i-retina)
• `Isifo sikaJoubert`
• `Isifo sikaZellweger`
• Ukungaboni kombala (`achromatopsia`)
• Ijwabu eligobileyo (i-ptosis)

Kuphela emva kokujonga konke oku apho ugqirha anokugqiba ngokuchanekileyo ukuba `(LCA)`.

Ziziphi iindlela zonyango (LCA)?

Enyanisweni, okwangoku akukho nyango lwale meko `(LCA)`. Kodwa ungakhathazeki. Oogqirha bazama ukuphucula umbono womntwana baze bamncede aphile kakuhle kangangoko kunokwenzeka. Oku kudla ngokwenziwa kusetyenziswa iiglasi . Kukwakho nezixhobo ezifana `neziglasi zokukhulisa` okanye `iiprism zokufunda` ezinokunceda abo bangaboni kakuhle.

Masifunde nangonyango lwezakhi zofuzo.

Oku kutsha kancinci. Ngo-2017, i-US Food and Drug Administration (FDA) yavuma unyango lokuqala lwezakhi zofuzo ukunyanga esi sifo (LCA). Oku kuyathembisa ngokwenene. Nangona kunjalo, olu nyango okwangoku luvunyiwe kuphela kubantu aba-(LCA) babo babangelwa kukuguquka kwezakhi zofuzo ekuthiwa yi-RPE65 .

Ngamafutshane, unyango lwezakhi zofuzo yinkqubo yokutshintsha i-gene ebangela isifo nge-gene ephilileyo. Okanye, ukuvala i-gene ebangela isifo. Ithemba kukungenisa i-gene enempilo kwiiseli nokuguqula isifo. Nangona olu nyango luselusekelwe kuphando, lunokuba sisisombululo esilungileyo kwiimeko ezifana ne-`(LCA)` kwixesha elizayo.

Ugqirha wamehlo uza kukuxelela ukuba olu nyango lwezakhi zofuzo lufanelekile na kumntwana wakho okanye akunjalo.

Ngaba i-LCA ingathintelwa?

Enyanisweni, ukuba umntwana uzuze i-genetic mutation ebangela `(LCA)`, akukho ndlela yokuyithintela. Asinto esinokuyilawula. Nangona kunjalo, njengoko benditshilo ngaphambili, ukuba unamathandabuzo okanye uloyiko malunga nezifo ze-genetic, kungcono ukufumana ingcebiso ye-genetic ngaphambi kokuba nomntwana okanye ngexesha lokukhulelwa. Emva koko unokuqonda ngokucacileyo iingozi.

Ndingalindela ntoni ukuba umntwana wam unayo (i-LCA)?

Kuqhelekile ukuba uzive ulusizi kakhulu kwaye usoyika xa ufumanisa ukuba umntwana wakho une-`(LCA)`. Iintsana ezininzi ezine-`(LCA)` zinokulahlekelwa kukubona kwazo ngokupheleleyo okanye zinciphe kakhulu. Yiyo loo nto.

Kodwa, oko akuthethi ukuba umntwana wakho akayi kuphila ubomi obonwabisayo nobunempilo. Umntwana wakho uya kufuna ukuvavanywa amehlo rhoqo ukuze kujongwe naluphi na utshintsho emehlweni akhe okanye ukubona ukuba umbono wakhe uya usiba mandundu na. Ugqirha wakho uya kukuxelela ukuba kufuneka wenze ezi mviwo kangaphi.

Eyona nto ibalulekileyo kukunika umntwana wakho inkxaso nothando aludingayo. Unendima enkulu ekufuneka uyidlale ekumfundiseni ukuba aphile ubomi obuphantsi nokumkhuthaza. Kwakhona, khangela amaziko nezikolo ezinceda abantwana abanjalo. Kuya kuba luncedo olukhulu ekwenzeni ikamva labo liphumelele.

Ndifanele ndimbone nini ugqirha?

Ndiza kukukhumbuza kwakhona: Ukuba ubona into engaqhelekanga emehlweni omntwana wakho, okanye ukuba uvakalelwa kukuba akakwazi ukubona, bonana nogqirha wamehlo ngokukhawuleza.

Ukuba sele uyazi ukuba umntwana wakho unayo (LCA), kwaye ubona utshintsho ekuboneni kwakhe okanye iimpawu eziya ziba mandundu, bonana nogqirha ngoko nangoko.

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa sisiya kugqirha, ngamanye amaxesha siyalibala into esifuna ukuyibuza. Ngoko ke, nantsi eminye imibuzo enokukunceda:

• Ingaba umntwana wam une-'Leber's congenital amaurosis (LCA)' ngokwenene?
• Yintoni i-genetic change eyabangela oku? (Ukuba ingafunyanwa)
• Zeziphi ezinye iimvavanyo endizidingayo kumntwana wam?
• Angakanani amathuba okuba angasaboni kakuhle?
• Ingaba umntwana wam ufanelekile kunyango lwezakhi zofuzo?

Kuza kuba baluleke kakhulu kuwe ukuba uve kwaye wazi izinto ezinje.

Ngaba kukho unxibelelwano phakathi kwe-LCA kunye ne-Autism Spectrum Disorder?

Oku kukwayingxaki kwabanye abazali. `(LCA)` kunye `Autism Spectrum Disorder (ASD)` ziimeko ezimbini ezichaphazela ukukhula komntwana. `(LCA)` ichaphazela i-retina yamehlo, `(ASD)` yingxaki yophuhliso lwe-neurodevelopmental`.

Ezinye izifundo zifumanise ukuba kukho unxibelelwano phakathi kwabantwana abane-LCA kunye ne-ASD. Nangona kunjalo, oku akuthethi ukuba wonke umntwana one-LCA uza kuba ne-ASD. Ukuba ufuna ukwazi okungakumbi ngale nto, kungcono ukuthetha nogqirha wakho.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, mandikuxelele ezinye zezona zinto zibalulekileyo esithethe ngazo ukuze zikuncede uzikhumbule.

I-Leber's congenital amaurosis (LCA) yimeko engaqhelekanga yemfuza enokubangela ukulahleka kokubona kwiintsana kuba iiseli ezikwi-retina yazo azisebenzi kakuhle.

Ukuba umntwana wakho ufunyaniswe enayo i-(LCA), kusenokwenzeka ukuba alahlekelwe kukubona. Kodwa oko akuthethi ukuba akanakuphila ubomi obonwabisayo nobunempilo.

Oku kungenxa yotshintsho lwemfuza. Ukuba uneenkxalabo okanye amathandabuzo malunga noku, kubaluleke kakhulu ukufuna iingcebiso ngemfuza.

Eyona nto ibalulekileyo kukubona ugqirha wamehlo ngokukhawuleza xa ubona naluphi na utshintsho emehlweni omntwana wakho.Emva koko ungafumana unyango olufunekayo kunye nenkxaso ngokukhawuleza. Ugqirha wakho uza kukuchazela yonke into, kuquka ukuba umntwana wakho kufuneka ahlolwe amehlo kangaphi kunye nento onokuyenza ukukhusela umbono wakhe.

Khumbula, awuwedwa. Kukho oogqirha, abacebisi, kunye namaqela enkxaso ukukunceda kolu hambo.

I- Leiber congenital amaurosis, i-LCA, ubumfama bosana, i-retina, utshintsho lwemfuza, ukulahleka kokubona, izifo zamehlo