Ingabe kukhona umehluko emehlweni engane yakho? Ake sifunde nge-'Optic Nerve Hypoplasia' kanye ne-'Septo-Optic Dysplasia'!

Uma ubheka ingane yakho, wake wazizwa sengathi amehlo ayo awakubheki ngqo, sengathi agijima lapha nalaphaya, noma sengathi awakwazi ukuhlala endaweni eyodwa? Ingabe ngezinye izikhathi uzizwa sengathi akabheki ithoyizi elincane kahle, kodwa udlala ngalo? Kujwayelekile kakhulu ukuthi umama noma ubaba azizwe esaba kakhulu futhi ekhathazekile lapho ebona izinto ezinjengalezi. Namuhla sizokhuluma ngesimo esingadala lezi zimpawu futhi esikhona lapho ezalwa . Lokhu kubizwa ngokuthi 'i-Optic Nerve Hypoplasia'.

Kuyini 'i-Optic Nerve Hypoplasia'?

Kalula nje, i-Optic Nerve Hypoplasia yisimo sokuzalwa. Okwenzekayo lapha ukuthi i-optic nerve, ethwala imiyalezo phakathi kwamehlo ethu nobuchopho, ayikhuli kahle noma incane. Cabanga ngayo njengamakhamera amabili. Lokho ikhamera ekubonayo kuthunyelwa ebuchosheni njengezithombe nge-optic nerve. Ngakho-ke uma le nzwa ingakhuli kahle, lokho iso elikubonayo akuyi ebuchosheni ngokucacile. Lokhu kungabangela izinkinga ezahlukahlukene zokubona, njengokuzulazula kwamehlo .

Lesi simo asigcini nje ngokuthinta i-optic nerve. Ngezinye izikhathi singathinta nokukhula kwezinye izingxenye zobuchopho bengane, ikakhulukazi:

• Ukukhubazeka kobuchopho obuphakathi nendawo: Izingxenye zobuchopho ezihlukanisa ama-hemispheres amabili, njenge-septum pellucidum kanye ne-corpus callosum, zingase zingakhuli kahle. Ngezinye izikhathi, lezi zingase zingakhuli nhlobo. Lokhu kubalulekile ekuxhumaneni phakathi kwezingxenye zobuchopho.

• I-Pituitary Gland Hypoplasia: Kungenzeka ukuthi uke wezwa nge-Pituitary Gland. Itholakala phansi kobuchopho, ngaphansi kwe-Hypothalamus. Le gland encane ilawula imisebenzi eminingi ebalulekile emzimbeni wethu, ikakhulukazi ukukhiqizwa kwama-hormone . Ngakho-ke uma le gland ingakhuli kahle, ingase ingakhiqizi ama-hormone adingwa ngumzimba, noma ingase ikhiqize okuncane kakhulu.

Ngezinye izikhathi, lesi simo sibizwa nangokuthi `(Optic Nerve Hypoplasia)` noma `(Septo-Optic Dysplasia - SOD)` noma `(de Morsier Syndrome)`. Lokhu kungenxa yokuthi, njengoba ucwaningo luthole, cishe wonke umuntu one-`(SOD)` unentuthuko yezinzwa ze-optic ethintekile. Kodwa-ke, amaphesenti amancane kuphela abantu abane-`(ONH)` (okungukuthi phakathi kuka-5% no-10%) abanokuthuthukiswa okuthintekile kwezingxenye eziphakathi zobuchopho (isibonelo, `(Septum Pellucidum)`).

Sivame kangakanani lesi simo?

Ngokwezibalo emazweni afana ne-United States, ingane eyodwa kweziyi-10,000Kuthiwa lesi simo `(Optic Nerve Hypoplasia)` singathinta abantu ababalelwa ku-100,000. Futhi, lesi simo sitholakale njengembangela eyinhloko yokulahlekelwa umbono ezinganeni ezingaphansi kweminyaka emi-3 ubudala. Kukhona nezingane ezinjalo eSri Lanka.

Ingabe i-Optic Nerve Hypoplasia iyisimo esibucayi?

Yebo, lesi yisimo esibucayi, futhi singaba sibi ngezinye izikhathi. Kodwa imiphumela iyahlukahluka kumuntu nomuntu. Ezinye izingane zingase zibe nezinkinga ezinkulu zokubona. Futhi, uma i-pituitary gland ithintekile, ingaphazamisa ukukhiqizwa kwama-hormone emzimbeni. Ezinye izinkinga ezihlobene nama-hormone zingaba yingozi ngisho nokuphila. Ngakho-ke, uma ucabanga ukuthi ingane yakho inalezi zimpawu, noma uma ubona noma yiziphi izinguquko ekuziphatheni kwayo, kubaluleke kakhulu ukubona udokotela ngokushesha, ikakhulukazi udokotela wezingane noma udokotela wamehlo.

Ziyini izimpawu ze-Optic Nerve Hypoplasia?

Izimpawu ezibonakala kulesi simo zingathinta iso elilodwa noma womabili amehlo.

Izimpawu ezingabonakala ezihlobene namehlo:

• Ukukhubazeka kokubona: Lokhu kungasukela ekunciphiseni okuncane kokubona kuye ekulahlekelweni ngokuphelele kokubona (Ukukhubazeka Okukhulu Kokubona noma Ubumpumputhe).
• I-Nystagmus: Ukunyakaza okusheshayo nokuqhubekayo kwamehlo kusuka ohlangothini olulodwa kuya kolunye noma phezulu naphansi, okufana nesandla sesibili sewashi, kodwa ngokushesha.
• I-Strabismus (amehlo ahlanganisiwe) noma i-Esotropia (amehlo angakhombisi ohlangothini olufanayo): Iso elilodwa lingabheka phambili kanti elinye lingabheka ohlangothini oluphambene.
• Ubunzima bokugxila entweni: Uma ecelwa ukuba abheke into ethile, njengethoyizi, umuntu angase angakwazi ukugxila kahle kuyo.

Izimpawu ezingase zivele ngenxa yokuphazamiseka kokukhula kobuchopho:

• Izinkinga Zokuthuthukiswa Kobuhlakani (`(Ukukhubazeka Kobuhlakani)`): Izinto ezifana nobunzima bokufunda, amakhono obuhlakani angathuthuki ngendlela efanele iminyaka.
• Ukuquleka: Ukulahlekelwa ingqondo ngokuzumayo kanye nokuquleka.

Izimpawu ezihlobene nama-hormone angase avele ngenxa yokukhula okunciphayo kwe-pituitary gland:

Lokhu kubaluleke kakhulu, ngoba ama-hormone alawula izinto eziningi emizimbeni yethu.

• Ubunzima bokulawula imisebenzi yomzimba: Isibonelo, ukungakwazi ukulawula indlala nokoma, izinkinga zokulala, ukungakwazi ukugcina izinga lokushisa lomzimba ngendlela efanele.
• Ukungakwazi ukuthwala: Ukuntuleka kobude obufanele iminyaka, okuba mfushane kakhulu kunezinye izingane.
• I-Hypothyroidism: Lokhu kuthinta nezinqubo eziningi emzimbeni.
• Ukuthomba okulibazisekile.
• Ushukela ophansi egazini (i-Hypoglycemia): Lokhu kungaba yingozi.
• Isimo esifana nesifo sikashukela kodwa esingahlobene noshukela, esibangela ukuchama ngokweqile kanye nokoma (`(Diabetes Insipidus)`).
• I-Jaundice: Ukuphuzi kwesikhumba namehlo, ikakhulukazi ezinganeni ezisanda kuzalwa.

Cabanga ngentombazanyana yakho izama ukubuka ithoyizi, kodwa amehlo ayo awabonakali egxile kahle, noma iyathuthumela nje. Noma ihlala ihlanza, ibonakala ibanda, futhi ayiphuzi ubisi kahle. Uma ubona into efana nale, udinga ukubona udokotela ngokushesha.

Ingabe i-Optic Nerve Hypoplasia ingabangela ubumpumputhe obuphelele?

Kwezinye izimo, yebo. Lesi simo singabangela ukulahlekelwa okukhulu kokubona noma ngisho nokungaboni ngokuphelele . Ngakolunye uhlangothi, ezinye izingane zinezinkinga zokubona ezincane kuphela. Ngezinye izikhathi, njengoba ingane ikhula, ezinye zalezi zimpawu (njenge-nystagmus) zingase zinciphe. Udokotela wakho uzokwazi ukukutshela ngqo ukuthi lesi simo sizoyithinta kanjani ingane yakho.

Yiziphi izizathu zalesi simo?

Abacwaningi abakaqiniseki ukuthi yini ngempela ebangela i-Optic Nerve Hypoplasia. Kodwa-ke, kucatshangwa ukuthi ibangelwa yinhlanganisela yezici zemvelo kanye nezakhi zofuzo. Isibonelo, lesi simo singase sihlotshaniswe ne-fetal alcohol syndrome (FAS), ebangelwa umama ophuza utshwala ngesikhathi sokukhulelwa.

Nakuba imbangela yezakhi zofuzo ingeke itholakale njalo, kwezinye izimo izinguquko zezakhi zofuzo (`(Mutations)`) zingathinta lokhu. Lezi zinguquko zezakhi zofuzo zizuzwa njenge-`(Autosomal Recessive)`, okusho ukuthi ingane ingaba nalesi simo kuphela uma ingane ithola lesi sakhi sofuzo esishintshiwe kumama nakubaba. Ezinye zezakhi zofuzo ezingase zihileleke yilezi:

• `(HESX1)`
• `(SOX2)`
• `(SOX3)`
• `(OTX2)`
• `(PROKR2)`
• Ezinye izakhi zofuzo ezingakatholakali.

Yiziphi izici eziyingozi ze-Optic Nerve Hypoplasia?

Kunezici ezithile ezingabangela lesi simo. Lezi yizinto ezivame ukuthinta umama ngesikhathi sokukhulelwa:

• Ubudala bomama obungaphansi kweminyaka eyi-19.
• Ukukhulelwa okokuqala.
• Othile emndenini (umndeni wemvelo) uke waba nalesi simo ngaphambili.

Uma uqala umndeni noma ulindele omunye umntwana, kubaluleke kakhulu ukuya emitholampilo yokunakekelwa kwangaphambi kokubeletha njalo. Lokhu kuzokusiza ukuthi ugcine impilo yakho kanye neyomntwana wakho ongakazalwa.

Yiziphi izinkinga zalesi simo?

Izinkinga ze-optic nerve hypoplasia ziyahlukahluka kuye ngokuthi iyiphi ingxenye yobuchopho ethintekile. Ezinye izinkinga zingase zihlanganise:

• Ukungakwazi ukulawula izinga lokushisa lomzimba.
• Indlala nokoma ngokweqile (`(Hyperphagia)`) ngakho-ke ukukhuluphala ngokweqile (`(Ukukhuluphala ngokweqile)`).
• Ukulahlekelwa yisifiso sokudla noma ukwenqaba ukudla (`(Hypophagia)`).
• Ukungahambi kahle ebuthongweni nasekuvukeni.
• Ukulibaziseka kokukhula: Lokhu kusho ukubambezeleka kwamakhono okunyakaza komzimba (njengokuhamba nokukhasa) kanye namakhono okuxhumana (njengamakhono okuxhumana).
• Isifo Sokuphazamiseka Kwe-Autism (ASD).

Ezinye zalezi zinkinga, ikakhulukazi izinkinga zokulawula izinga lokushisa komzimba kanye nokondla, zingaba yingozi empilweni kwezinye izimo, ngakho-ke kumelwe kuqashelwe kakhulu.

I-Optic Nerve Hypoplasia ihlolwa kanjani?

Lesi simo sivame ukutholakala ngudokotela wamehlo ngemva kokuhlolwa kwamehlo nokunye ukuhlolwa. Ngokuvamile, uphawu lokuqala lwalokhu ukunyakaza kwamehlo okungavamile. Lolu phawu lungabonakala ezinyangeni ezimbalwa zokuqala zokuzalwa komntwana. Kodwa-ke, ngezinye izikhathi kungase kungabonakali kuze kube yilapho ingane isisesikoleni noma isencane.

I-ONH ingenzeka yodwa, okusho ukuthi ayithinti ezinye izingxenye zobuchopho. Noma, ngaphezu kwe-optic nerve, ingatholakala ukuthi inenkinga eyodwa noma ngaphezulu yokukhula ebuchosheni obuphakathi kanye ne-pituitary gland.

Ukuze kuqinisekiswe ukuxilongwa, udokotela angase acele ukuhlolwa kwesithombe, njenge-MRI (Magnetic Resonance Imaging) noma i-CT scan (Computed Tomography scan). Lokhu kuskena kusiza udokotela ukuthola umbono ongcono wokuthi ubuchopho bengane yakho bukhula kanjani.

Ngaphezu kwalokho, kungenziwa ukuhlolwa kwegazi okuningana. Lokhu kwenziwa ukuze kukhishwe ezinye izimo ezinezimpawu ezifanayo. Isibonelo, amazinga e-cortisol esegazini kanye ne-hormone yokukhula angahlolwa. Lokhu kungase kungabi okungavamile ku-ONH.

Ingabe i-Optic Nerve Hypoplasia ingelapheka?

Ngeshwa, okwamanje akukho ukwelashwa kwalesi simo. Njengoba kuyisimo sokuzalwa naso, asinakuguqulwa noma sibuyiselwe esimweni saso.

Ngakho-ke uphatha kanjani lokhu?

Ukwelashwa kuhloswe ukulawula izimpawu zengane nokuhlinzeka impumuzo. Lokhu kungahluka kumuntu nomuntu. Izindlela zokwelapha eziyinhloko yilezi:

• Ukwelashwa Kokubona:Ukusebenzisa amadivayisi asiza ngezinkinga zokubona, njengezibuko ezikhethekile namalensi okukhulisa ('izinsiza zokubona okuphansi'), ukusiza ingane ukuthi yenze imisebenzi yansuku zonke.
• Ukwelashwa Kokufaka Ama-hormone: Uma kukhona ukuntuleka kwama-hormone ngenxa yezinkinga ze-pituitary gland, ama-hormone anikezwa ngaphandle. Kunemithi ekhethekile yalokhu.
• Ukwelashwa Komzimba, Ukwelashwa Komsebenzi, kanye/noma Ukwelashwa Ngenkulumo: Lezi zindlela zokwelapha zisiza ekuthuthukiseni intuthuko yomzimba yengane, ikhono lokwenza imisebenzi yansuku zonke ngokuzimela, kanye namakhono okukhuluma.

Udokotela uzonquma ukuthi hlobo luni lokwelashwa olufanele ingane yakho bese edala uhlelo lokwelashwa ngokufanele. Kuye ngezinye izimpawu zengane yakho, kungase kudingeke ezinye izindlela zokwelapha ezithile.

Uma udinga ukunikeza ingane yakho imithi, buza udokotela wakho ngokucophelela ukuthi kufanele uyinike nini imithi, ukuthi ingakanani, ukuthi uyinike kanjani, nokuthi yimiphi imiphumela emibi okufanele uyiqaphele.

Lizoba njani ikusasa lomntwana kulesi simo?

Imiphumela ye-Optic Nerve Hypoplasia iyahlukahluka kakhulu kumuntu nomuntu. Ezinye izimpawu zingabonakala ebuntwaneni, kanti ezinye zingabonakala ebuntwaneni noma ebusheni. Izindaba ezinhle ukuthi lesi simo asiqhubeki. Lokhu kusho ukuthi lesi simo asibi sibi ngokuhamba kwesikhathi . Ezinye izimpawu, njenge-nystagmus, zingase zithuthuke ngisho nangokweminyaka.

Izingane ezine-ONH zidinga ukubhekwa nokunakekelwa isikhathi eside ngabazali, abanakekeli, nodokotela. Kufanele zihlolwe njalo ukuqinisekisa ukuthi impilo yazo inhle. Kufanele zihlolwe amehlo okungenani kanye ngonyaka futhi zibone abanye ochwepheshe uma kudingeka.

Nakuba izinkinga ezinkulu nge-pituitary gland zingaba yingozi empilweni, imiphumela emihle kakhulu ingatholakala uma lesi sifo sitholakala futhi selashwa kusenesikhathi.

Ingabe i-Optic Nerve Hypoplasia ingavinjelwa?

Okwamanje ayikho indlela eyaziwayo yokuvimbela lesi simo. Uma uhlela ukukhulelwa, kungumqondo omuhle ukubona umeluleki wezakhi zofuzo noma umhlinzeki wokunakekelwa kwangaphambi kokubeletha ukuze ufunde kabanzi ngezinto ezikubangela ingozi nokuthi ungahlala kanjani uphilile.

Kufanele ngimbone nini udokotela?

Uma amehlo engane yakho engakuboni kahle, ephazamisekile, noma enyakaza ngendlela engavamile , bona udokotela ngokushesha. Futhi, tshela udokotela wakho uma ingane yakho ingafinyeleli izigaba zokukhula (isibonelo, ukukhasa, ukukhasa, noma ukufinyelela izinto) ezifanele iminyaka yayo.

Uma ingane yakho inesifo sokuwa, shayela u-911 ngokushesha noma uyiyise ekamelweni lezimo eziphuthumayo esibhedlela esiseduze.

Yimiphi imibuzo okufanele ngiyibuze udokotela?

Ungabuza udokotela wakho imibuzo efana nale:

• Ngingamsiza kanjani ingane yami ukuthi ibhekane nezimpawu zayo?
• Yini okufanele ngiyenze uma ngibona ukuthi ingane yami ilahlekelwa yizinyathelo zokukhula?
• Ingabe ingane yami idinga izibuko noma ezinye izinsiza zokubona?
• Lesi simo `(ONH)` sizoyithinta kanjani ingane yami lapho iqala isikole?
• Ingane yami kufanele ihlolwe amehlo kangaki?

Okokugcina, izinto okufanele uzikhumbule

Njengomzali, kuvamile ukuzizwa ushaqekile futhi wesaba lapho amehlo engane yakho ezulazula futhi engakubheki kahle. Isimo esibizwa ngokuthi i-Optic Nerve Hypoplasia singathinta ikhono lengane yakho lokukubona kahle. Singathinta nezinye izingxenye zobuchopho ezisiza ngemisebenzi ebalulekile njengokukhiqizwa kwama-hormone nokukhula ngokomzimba.

Kodwa khumbula, awuwedwa. Udokotela angahlola ingane yakho, axilonge, futhi anikeze uhlelo lokwelapha oluhambisana nezimpawu zayo ezithile.

Kuvamile ukuthi izingane zidinge usizo oluthe xaxa esikoleni kunabanye abantwana, ikakhulukazi uma zithatha isikhathi eside ukukhula kunezinye. Uma ubona noma yiziphi izimpawu ezikhathazayo ezithinta ukukhula noma intuthuko yengane yakho, ungangabazi ukutshela udokotela wakho. Ithimba lezokwelapha lengane yakho lihlala likulungele ukuphendula noma yimiphi imibuzo ongase ube nayo. Ngesibindi, unganika ingane yakho ukunakekelwa okungcono kakhulu ekudingayo.

i- optic nerve hypoplasia, i-septo-optic dysplasia, ubumpumputhe bokuzalwa, ukukhubazeka kokubona, i-pituitary gland, ukukhula kwengane, i-nystagmus