I-neurofibromatosis iyisifo se-genetic, multi-system kunokungaboni nje kuphela amehlo, kodwa nobuchopho, izinzwa, amathambo nesikhumba. Kunezinhlobo ezimbili ze-neurofibromatosis: NF1 (uhlobo 1) no- NF2 (uhlobo 2) . I-NF1 yiyona ndlela ejwayelekile kakhulu yesifo, emele amaphesenti angu-90 amacala.
Abantu abane-NF1 bavame ukuthi babe nezimpawu eziningana ezingaba khona lapho bezalwa, kodwa eziningi zezibonakaliso nezimpawu zibonakale zisencane.
Labo abane-NF2 bavame ukuthuthukisa izimpawu nezimpawu kamuva ekuphileni, phakathi kweminyaka engama-20 no-30. Ngezinye izikhathi i-NF1 ibizwa ngokuthi yi-Von Recklinghausen noma i-neurofibromatosis yomzimba. Ngezinye izikhathi i-NF2 ibizwa ngokuthi i-neurofibromatosis ephakathi.
Izimpawu Nezibonakaliso
Abantu abane-neurofibromatosis uhlobo 1 bangase babe nezici ezilandelayo:
- Ama-Cafe-au-lait macules: Ama- Cafe-au-lait macules anezilonda zesikhumba ezihlotshisiwe ezibonakala kubantu abangu-95% abane-neurofibromatosis. Lezi zimpawu ezimnyama zivame ukwanda usayizi nenombolo phakathi neminyaka eyishumi yokuqala yokuphila.
- Ukukhishwa kwesithombeni: I- freckling yesikhumba ivame ukubizwa ngokuthi uphawu lwe-Crowe. Abantu abanesifo se-neurofibromatosis bavame ukuqoqa ama-freckles ezindaweni ezivulekile nezigubhu. Kwamanye, lezi zintambo zitholakala ngaphezu kwamajwabu amehlo, ngaphansi kwamabele kanye nasentanyeni.
- Ukushintsha kwe-Bone: Abantu abane-neurofibromatosis bajwayele ukukhula kwethambo okungavamile futhi ngezinye izikhathi ama-dysplasia amathambo. I-dysplasia yezidumbu idala isisindo esifushane kanye nemilenze nemilenze ukuba ingalingani nalo lonke umzimba.
I-neurofibromatosis ne-Eyes
Abantu abane-neurofibromatosis bavame ukuthuthukisa ukungalingani okuthinta ngqo amehlo.
- I-neurofibromas enesisindo: I-neurofibroma enesisindo sinesihenqo sesikhumba esibonakalayo ku-NF1. I-neurofibromas iphakeme, izikhumba zesikhumba nxazonke. Ama-neurofibromas avela ebuntwaneni bese ekhulisa usayizi nenombolo kulo lonke impilo. I-neurofibromas ingaba enkulu kakhulu, ngezinye izikhathi ifinyelela ngamasentimitha amahlanu. Ngokuvamile akusizi ubuhlungu kodwa kungenza ukuthi kube lula futhi kuthinteke ekuthinteni. Uma kwenzeka nxazonke zamajwabu amehlo angabangela ukuvuvukala kanye nezifo ezifana ne- blepharitis . Futhi zingabangela ukuhlanekezela kwejwabu leso njengokuthi i-ptosis, lapho ijwabu leso lihlala liphansi kunalokhu kufanele, kanye ne-ectropion, lapho ijwabu leso eliphansi liwela khona emehlweni futhi lingabonakaliswa emkhathini ngokungavamile.
- I-Lisch nodules: I- Lisch nodule iphakanyiswa, izilonda ezinemibala ezivela ku- iris . Odokotela bamehlo bangabona izigungu ze-Lisch emehlweni abantu abane-neurofibromatosis abaseneminyaka eyisithupha ubudala. Zibukeka njengezilonda ezincane, eziyindilinga, ezinama-dome ezigxila ku-iris. Lezi zingabalulekile ekuhloleni. Ngezinye izikhathi, ama-nodch ase-Lisch atholakala ngesikhathi sokuhlolwa kwamehlo ngaphambi kokuba umuntu atholakale ene-neurofibromatosis.
- I-hamartomas ye-astrocytic ephindaphindiwe: I-hamartomas e- Retinal astrocytic yizinhlamba ezinamandla ze-retina ezingakhula kuzo zombili amehlo. Zingafaka i-nertic optic kodwa zingasakaza futhi ukuze zithinte i-macula, enkabeni ye-retina. Uma lezi zingxenye zihileleka, umbono ungancipha futhi u-strabismus (ukuphenduka kwamehlo) angase abe khona. Lolu hlobo lwe-tumor lusesigxotsheni esilandelayo, noma
- I-Optic pathway gliomas: Abaningi abangamaphesenti angu-15 abantwana abane-NF1 banezinambuzane zobuchopho ezithinta indlela ye-optic, efaka i-nertic optic njengoba iphuma ngemuva kweso bese ibuyela emuva ebuchosheni. Ngezinye izikhathi lezi zicubu zingabangela i-proptosis. I-proptosis yisimo lapho inqwaba ibangela ukuba iso liqhubekele phambili. I-Strabismus (iso eliphendukile) lingabuye lenzeke njengomphumela we-optic gliomas.
Ukwelapha
I-neurofibromas ingaba enkulu kakhulu kwinombolo noma ivele ezincane ezincane. Uma lezi zinhlayiya zikhuphuka ezindaweni eziyingozi ezingabangela izinkinga, isibonelo ngethempelini, zingasuswa ngokuhlinzwa. I-neurofibroma ethempelini ingabangela izinkinga ezinkulu zizama nje ukugqoka izibuko zokugqoka noma izibuko. Ukususwa kokuhlinzwa kusebenza kahle izilonda ezodwa kodwa akunakwenzeka ezimweni eziningi ukususa inombolo enkulu yazo.
Abantu abanezinzwa eziningi ze-neurofibromas ezungeze iso nejwabu leso kudingeka badonwe ngokwengeziwe ekusebenzeni okuhle kulezi zindawo. Ukuhlanza ama-neurofibromas azungeze ijwabu leso kungavimbela i-blepharitis nezinye izifo zesikhumba.
Izingane ezakha ama-gliomas optic ngokuvamile azidingi ukwelashwa ngaphandle kokuthi izicubu zibonisa ukukhula okusheshayo noma ukuqhubekela phambili. Uma lokhu kwenzeka, i-chemotherapy iyindlela yokwelapha. Ngezinye izikhathi lezi zilonda zobuchopho zingabangela ukukhubazeka okuthuthukayo noma okungaqondakali. Lezi zingane zidinga ukunakwa okukhethekile njengoba lezi zilonda zingabangela ukukhubazeka kwendawo, ukulahlekelwa kwe-visuomotor nezinkinga zolimi kanye nezinkinga zokuxhumanisa.
Izinkinga
Izinkinga ezimbalwa zingase ziphakame kubantu abane-NF2.
- Neuromas Acoustic: I- Neurofibromatosis uhlobo 2, i-NF2, ibangelwa ukuguqulwa kwesiginja esithinta ukukhula kwezicubu. Lokhu kubangela ukukhulelwa ngokweqile kwezicubu zesishukela kanye nokukhula kwesisu. Esinye sezibonakaliso ezivame kakhulu ze-NF2 yi-neuromas ye-acoustic, noma isisu esithinta inzwa evumela ukuthi sizwe. Abantu abahluphekile ngalokhu bangase bakhononde ngezinkinga zokulinganisela, ukulahlekelwa kokuzwa kanye ne-tinnitus.
- I-cataracts : Amaphesenti angamashumi ayisishiyagalombili abantu abane-NF2 bazokwakhiwa izinhlobo ezimbili ze-cataracts, i-posterior subcapsular ne-cortical cataracts. Lezi zivame ukubhekana nesifo sengqondo kodwa ama-20% we-isipiliyoni anciphise umbono ngenxa yabo.
- I-Optic nerve sheath meningiomas: Amaphesenti angaba ngu-27 abantu abane-NF2 bazoba nezicubu ezithinta isembozo esizungeze i-nertic optic. Izidumbu ngokwazo zivame ukuzibulala kodwa ziyakwazi ukucindezela futhi zifake iminyango yegazi kanye nemithambo yegazi ku-nertic optic, okwenza kube nokulahleka kombono. Lezi zi-meningiomas nazo zingenza ukuba iso liqhume phambili futhi libhekise emithinini yemisipha yamehlo.
- Izibungu ze-Epiretinal: Abantu abahlukunyezwa yi-NF2 kubonakala sengathi bakhulisa kalula izibungu ze-epiretinal. Izibungu ze-Epiretinal ziyizinambuzane ezithuthuka phezu kwe-retina. I-membrane ngokuvamile igxile phezu kwe-macula. Uma lezi zinambuzane zihlanganiswa, zingabangela ukunciphisa noma ukuhlanekezela umbono.
Okufanele Ukwazi
I-neurofibromatosis yisifo esibi esibangela ukukhula kwe-tumor kuzo zonke izinhlelo eziningi emzimbeni. Kokubili i-NF1 ne-NF2 ingaveza izibonakaliso zamehlo odokotela abangase bazibonele kulokho okuzoholela ekuxilongweni kwangaphambili. Noma ubani osolakala ukuthi une-neurofibromatosis kufanele abe nokuhlolwa kwe-eye okuphelele kwonyaka kuhlanganise nokuhlenga iso.
Ubukhulu bezinkinga ezithinta amehlo ze-neurofibromatosis zingashintsha ngokuphawulekayo, ngisho namalungu omndeni ofanayo. Kodwa-ke, ngoba kuthinta izinhlelo eziningi zomzimba, laba bantu bavakashela ochwepheshe abaningi abahlukene abahlanganisa ama-neurosurgeons, ama-otolaryngologists, izazi ze-audiologists, i- optometrists / ophthalmologists , ne-neuroradiologists.
> Imithombo:
> Sowka, Joseph, Gurwood, Andrew, Kabat, Alan, Neurofibromatosis, p13-15, June 2016, Ukubuyekezwa kwe-Optometry, Incwadi yokuphathwa kwezifo ze-ocular, umagazini we-18.