Yini i-Leber's congenital amaurosis nokuthi ilashwa kanjani

-Delile

• Ungaselapha kanjani futhi uphile nalesi sifo
• Izimpawu eziyinhloko nokuthi ungazibona kanjani
• Ungasithola kanjani lesi sifo

I-Leber's congenital amaurosis, eyaziwa nangokuthi i-ACL, i-Leber's syndrome noma i-Leber's hereditary optic neuropathy, isifo esingajwayelekile esivela kulelifa elidala ushintsho olwenzeka kancane kancane ekusebenzeni kukagesi we-retina, okuyizicubu zamehlo ezithola ukukhanya nombala, okudala ukulahleka kombono omkhulu selokhu kwazalwa futhi ezinye izinkinga zamehlo, njengokuzwela ukukhanya noma i-keratoconus, isibonelo.

Ngokuvamile, ingane enalesi sifo ayikhombisi ukuthi izimpawu ziya ngokuya ziba zimbi noma ziyancipha ngokuhamba kwesikhathi, kepha igcina izinga elilinganiselwe kakhulu lokubona, okuthi, ezimweni eziningi, livumela kuphela ukunyakaza okusondele, ukwakheka nezinguquko ekukhanyeni.

I-Leber amagenosis yokuzalwa ayinalo ikhambi, kepha izibuko ezikhethekile namanye amasu wokuzivumelanisa nezimo angasetshenziswa ukuzama ukuthuthukisa umbono wengane nekhwalithi yempilo. Imvamisa, abantu abanezinkinga zalesi sifo emndenini, badinga ukwenza izeluleko ngezofuzo ngaphambi kokuzama ukukhulelwa.

Ungaselapha kanjani futhi uphile nalesi sifo

I-Amaurosis azalwe nayo kaLeber ayibi kubi eminyakeni edlule, ngakho-ke, ingane iyakwazi ukuzivumelanisa nezinga lokubona ngaphandle kobunzima obuningi. Kodwa-ke, kwezinye izimo, kungakuhle ukuthi usebenzise izibuko ezikhethekile ukuzama ukuthuthukisa kancane izinga lokubona.

Ezimweni lapho umbono uphansi kakhulu, kungasiza ukufunda i-braille, ukwazi ukufunda izincwadi, noma ukusebenzisa inja eqondisayo ukuhambahamba emgwaqweni, isibonelo.

Ngaphezu kwalokho, udokotela wezingane angancoma futhi ukusetshenziswa kwamakhompyutha aguqulelwe abantu abanombono ophansi kakhulu, ukuze kube lula ukukhula kwengane futhi kuvunyelwe ukuxhumana nezinye izingane. Lolu hlobo lwedivayisi lusizo ikakhulukazi esikoleni, ukuze ingane ifunde ngejubane elifanayo nontanga yayo.

Izimpawu eziyinhloko nokuthi ungazibona kanjani

Izimpawu ze-Leber's congenital amaurosis zivame kakhulu onyakeni wokuqala weminyaka futhi zifaka:

• Kunzima ukubamba izinto eziseduze;
• Kunzima ukubona ubuso obujwayelekile lapho bengekho;
• Ukuhamba kwamehlo okungavamile;
• Hypersensitivity ekukhanyeni;
• Isifo sokuwa;
• Ukubambezeleka ekuthuthukisweni kwezimoto.

Lesi sifo asikwazi ukubonwa ngesikhathi sokukhulelwa, futhi asibangeli izinguquko ekwakhekeni kweso. Ngaleyo ndlela, udokotela wezingane noma i-ophthalmologist angenza izivivinyo eziningana ukuqeda ezinye izinkolelo ezingadala izimpawu.

Noma nini lapho kuba nokusola kwezinkinga zokubona enganeni, kunconywa ukuthi uthintane nodokotela wezingane ukuze wenze ukuhlolwa kombono, njenge-electroretinography, ukuxilonga inkinga bese uqala ukwelashwa okufanele.

Ungasithola kanjani lesi sifo

Lesi yisifo esizuzwe ngofuzo, ngakho-ke, sidluliselwa sisuka kubazali siye ezinganeni.Kodwa-ke, ukuze lokhu kwenzeke, bobabili abazali badinga ukuba nohlobo lwesifo, futhi akuphoqelekile ukuthi noma yimuphi umzali abe nalesi sifo.

Ngakho-ke, kujwayelekile ukuthi imindeni ingazivezi izimo zesifo ezizukulwaneni eziningana, ngoba kunama-25% kuphela okudluliswa kwalesi sifo.