Ese amaso y'umwana wawe afite impinduka nk'izi? Reka twige kuri (syndrome ya Blepharophimosis)!

Hari igihe ushobora kuba warabonye ko amaso y'abana bato ahagaze mu buryo budasanzwe. Wenda aho amaso afunguka ni mato, cyangwa amaso asa n'aho arembye. Kubona ikintu nk'iki bishobora gutuma ugira ubwoba nk'umubyeyi. Muri ibyo bihe, ni ngombwa cyane kumenya iyi ndwara tugiye kuvugaho, ni ukuvuga indwara ya Blepharophimosis.

Syndrome ya Blepharophimosis ni iki? Mu magambo make...

Iyi ni indwara iterwa n’uturemangingo (genetic) igira ingaruka ku buryo amaso yawe amera. Tekereza nawe, amaso yacu ni cyo kintu cy’ingenzi cyane kirinda ijisho. Rero, gufunguka kw'amaso y'umuntu ufite iyi ndwara, ni ukuvuga icyuho kiri hagati y'amaso, ni gito ugereranije n'umuntu usanzwe. Nanone, amaso yo hejuru asa n'amaso arembye . Ikindi kintu ni uko imbere mu jisho, ni ukuvuga ku ruhande rw'izuru, ushobora kubona agahu gato kuva ku jisho ryo hasi kugeza ku jisho ryo hejuru.

Impamvu y'ibi ni impinduka muri gene yitwa `FOXL2`, cyangwa nk'uko abaganga babyita , impinduka . Ikindi kintu cy'ingenzi ni uko intanga z'abagore bafite iyi `Blepharophimosis Syndrome` nazo zishobora kwibasirwa.

Hari irindi zina rirerire abaganga bakoresha kuri ibi, ariryo `Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome`. Nanone yitwa `BPES` mu magambo ahinnye. Bamwe bashobora no kuyita ``small eye opening syndrome``. Iyi ni indwara umwana ashobora kubona ibi bimenyetso akivuka.

Ijambo "blepharophimosis" rivugwa "bleph-a-ro-phi-mo-sis." Bisa nkaho bigoye gato, si byo se? Ariko nta kibazo, reka tuvuge gusa `BPES` kugira ngo byoroshye.

Hari ubwoko bw'ibi? (Ubwoko bwa BPES)

Yego, hari ubwoko bubiri bw'ingenzi bwa 'BPES'. Ni ubwoko bwa I n'ubwoko bwa II .

Hari ibintu bimwe na bimwe bisanzwe by’ubwo bwoko bwombi:

• Uduce tw'amaso duto ugereranije n'ibisanzwe (blepharophimosis) .
• Amaso y'ijisho arekuye (ptosis) .
• Amaso yegereye kure kurusha uko asanzwe (telecanthus) .
• Uruhu ruzunguruka ruzamuka mu gice cy'imbere cy'ijisho ryo hasi, ni ukuvuga, rugana ku mazuru (epicanthus inversus) .

Noneho reka turebe itandukaniro ryihariye riri hagati y’ubwo bwoko bubiri.

Ubwoko bwa BPES bwa mbere

Niba ufite BPES type I, ishobora gutera indwara yitwa Primary Ovarian Insufficiency (POI) . Hari n'abantu bayita "imburagihe z'intanga ." Mu magambo make, ni igihe intanga z'umugore zihagarika gukora mbere y'igihe giteganijwe.

Ubwoko bwa BPES bwa II (Uburyo bwa BPES bwa II)

Ariko niba ufite BPES type II, nta bindi bibazo by’umubiri bitera mu mubiri wawe, bivuze ko hari ibindi bibazo bikomeye bigira ingaruka ku mubiri wose. Ibimenyetso byonyine bigaragara cyane ni ibifitanye isano n’amaso.

Ese indwara ya blepharophimosis ikunze kugaragara mu rugero rungana iki?

Ku isi yose, iyi 'syndrome ya Blepharophimosis' igaragara ku kigero cya 1 mu bana 50.000 bavuka . Ibi bivuze ko ari indwara idasanzwe.

Ni ibihe bimenyetso by'indwara ya blepharophimose?

Ibimenyetso by'iyi 'syndrome ya Blepharophimosis' bigira ingaruka cyane cyane ku kuntu amaso yawe asa. Wibuke ibimenyetso bine by'ingenzi twavuze mbere:

• Uduce duto tw'amaso.
• Amaso y'ijisho arekuye ( Ptosis ).
• Amaso meza cyane (Telecanthus).
• Uruhu ruzunguruka ku maso yo hasi y'imbere (Inner hepfo eyes that hiss - Epicanthus Inversus).

Tekereza gato, ibi bimenyetso bishobora guhindura gato uko isura y'umwana imeze. Ni ibisanzwe ko ababyeyi bagira impungenge iyo babibonye. Ariko ntugahangayike, hari ibintu bishobora gukorwa kuri ibi.

Uretse ibi bintu by'ingenzi, hari n'ibindi bintu bishobora kugaragara:

• Ectropion (guhindukiza imboni y'ijisho inyuma).
• Strabismus, izwi kandi nka "amaso afatanye ", ni indwara aho amaso afatanye.
• Amblyopia , iterwa n'ijisho rinanutse ribuza kureba neza. Mu by'ukuri, ijisho ribuza kureba neza.
• Amatwi afite imitsi , azwi kandi nka "amatwi y'igikombe" cyangwa "amatwi yo kugabanya," bivuze ko impande z'uduti two mu matwi zishobora kuba zipfunyanye cyangwa zigonze.
• Amatwi make.
• Ikiraro cyagutse cy'izuru.
• Icyuho kiri hagati y'izuru n'umunwa wo hejuru ni gito ugereranije n'ibisanzwe.
• Abantu bafite ubwoko bwa mbere bafite ikibazo cyo kunanirwa k'umusatsi w'intanga (POI).

Kuki ibi bibaho? Ni izihe mpamvu? (Ni iki gitera indwara ya blepharophimose?)

Impamvu nyamukuru itera iyi 'Blepharophimosis Syndrome' ni impinduka cyangwa impinduka muri gene yitwa 'FOXL2'. Ibi byandurira mu gene mu buryo bugaragara .

Mu magambo make, ibi bivuze ko nubwo umubyeyi umwe gusa ari we ufite iyi gene yahindutse (ihinduka), umwana ashobora kuyiragwa.Ariko, hari abantu bashobora kugira iyi ndwara ku nshuro ya mbere batayikomoye ku babyeyi babo. Muri ibyo bihe, abaganga bavuga ko ari "mutation nshya" cyangwa nshya y'uturemangingo, bivuze ko itarazwe n'umubyeyi warwaye.

Izindi ngorane zishobora guterwa n'ibi (Ni izihe ngorane ziterwa na blepharophimosis syndrome?)

Blepharophimose ishobora kugira ingaruka ku kureba kwawe . Ufite ibyago byinshi byo kugira amakosa yo kureba inyuma y'amaso , ashobora gutuma utabona neza uri kure cyangwa hafi yaho.

By’umwihariko, impinja n’abana bato bafite ikibazo gikomeye cyo kubura amaso (indwara yitwa lazy eye) bashobora kurwara indwara yitwa amblyopia . Ibi biterwa n’uko amaso afunga amaso yabo, bigatuma ubwonko budakira ibimenyetso biva muri iryo jisho. Iyo ibi bidavuwe vuba, kureba muri iryo jisho bishobora kwangirika burundu.

Ibi bipimwa gute? (Ni gute indwara ya blepharophimosis ipimwa?)

Muganga wawe ashobora gukeka ko ufite indwara ya Blepharophimosis nyuma yo kubona ibimenyetso bine by'ingenzi twavuze mbere no gupima amaso. Inzobere mu kwita ku maso ishobora gukora bimwe muri ibi bizamini cyangwa byose:

• Ikizamini cyo kureba neza: Ibi bikubiyemo kugusaba gusoma inyuguti ku mbonerahamwe. Iki kizamini gishobora gufasha muganga wawe kumenya niba ufite amakosa yo kureba kure, nko kureba hafi cyangwa kureba kure.
• Ibizamini by'amaso y'ubunebwe (Amblyopia) na strabismus .
• Gupima amaraso kugira ngo harebwe urugero rw'imisemburo myibarukiro (cyane cyane niba bikekwa ko ari ubwoko bwa mbere).
• Ibizamini bya genetike : Ibi bishobora kwemeza niba hari impinduka muri gene ya `FOXL2`.

Ni ubuhe buryo bwo kuvura? (Indwara ya blepharophimosis ivurwa ite?)

Indwara ya Blepharophimosis ikunze kuvurwa no kubagwa mu bwana . Hagati y'imyaka 3 na 5, kubagwa bikorwa kugira ngo hakosorwe indwara zitwa epicanthus inversus (kwinjira kw'uruhu rw'imbere rw'amaso) na telecanthus (amaso ari kure cyane). Hanyuma, nyuma y'umwaka umwe, umuganga w'inzobere akora ubundi buryo bwo kubaga kugira ngo akosore ijisho rinanutse (ptosis). Hari igihe ubu buryo bwose bushobora gukorwa icyarimwe, ariko ibi ntibikunze kubaho cyane.

Ubu buryo bwo kubaga ntibukorwa gusa kugira ngo habeho imiterere myiza y'amaso, ahubwo bunafasha umwana kubona neza. Kuko iyo amaso afunze, amaso ntazakura neza.

Niba ufite BPES type I, bivuze ko Insufficiency Primary Ovarian, muganga wawe ashobora kukugira inama yo kuvura imisemburo , cyane cyane inyunganiramirire ya estrogen. Ariko, ni ngombwa kwibuka ko ubu buryo bwo kuvura budakemura ikibazo cy'ubugumba . Ugomba kubiganiraho n'inzobere mu by'ubuzima bw'imyororokere.

Ese hari uburyo bwo kwirinda ibi? (Nagabanya nte ibyago byo kurwara indwara ya blepharophimosis?)

Nta buryo bwihariye bwo kwirinda Blepharophimosis Syndrome, kuko ari indwara iterwa n’uturemangingo. Ariko, niba hari umuntu wo mu muryango wawe ufite iyo ndwara, ni byiza kubanza kugisha inama ku bijyanye n’uturemangingo mbere yo kubyara umwana. Muri ubu buryo, ushobora kumenya byinshi kuri yo no kuganira ku ngaruka zishobora guterwa n’umwana wawe kugira ngo ayiragwe.

Ni iki nakwitega mu gihe mfite indwara ya blepharophimosis?

Niba ufite indwara ya Blepharophimosis, uzakenera kwipimisha amaso buri gihe . Ibi bishobora gufasha kureba niba amaso yawe ari meza kandi niba hari ibindi bibazo ufite.

Niba ufite uburwayi bwo mu bwoko bwa I, ugomba kuvugana n'inzobere mu by'ubuvuzi bw'indwara z'imitsi cyangwa inzobere mu buzima bw'imyororokere ku bibazo by'imisemburo n'uburumbuke.

Indwara ya Blepharophimosis irashobora kuvurwa, ariko ntishobora gukira. Ni ukuvuga ko nubwo kubagwa bishobora gusubiza amaso ku buryo runaka, ntibishobora guhindura impamvu y’imiterere y’amaso.

Ni ibihe bibazo ngomba kubaza umuganga wanjye?

Ni byiza kubaza muganga wawe ibibazo nk'ibi:

• Ni kangahe nkwiye gusuzumwa amaso yanjye?
• Ese mutanga inama ku birebana n'ubujyanama mu bijyanye n'uturemangingo?
• Ni izihe nama watanga zo gukemura ibibazo by'uburumbuke?
• Ni mu bihe bihe byagusaba kujya mu cyumba cy’ubutabazi bw’ibanze kubera iyi ndwara?

Ni irihe tandukaniro riri hagati ya Blepharophimosis imitekerereze y'ubumuga syndrome n'iyi?

Ibi nabyo birateye urujijo gato, bityo ni byiza kubisobanura. Abantu bafite indwara yitwa `Blepharophimosis intellectual disorder syndromes` bashobora no kubona amaso arembye kandi afite imyenge mito ugereranyije n’iy’amaso asanzwe. Ariko, ntibabona `telecanthus` (amaso atandukaniye kure) cyangwa `epicanthus inversus` (imyenge y’uruhu rw’imbere).

Igikuru ni uko abantu bafite `Blepharophimosis intellectual disorder syndromes` bagira iterambere rito mu mutwe.Ingero z'ibi zirimo indwara zitwa `Ohdo syndrome` na `Say-Barber-Biesecker-Young-Simpson syndrome`. Abahanga mu bya siyansi bavuga ko muri Leta Zunze Ubumwe za Amerika hari abantu batarenze 1.000 bafite izi ndwara z'ubumuga bwo mu mutwe.

Ariko, abafite `Blepharophimosis Syndrome (BPES)` twavuga ntabwo bafite ubumuga bwo mu mutwe. Iri ni ryo tandukaniro rikomeye.

Indwara ya Blepharophimosis, cyangwa BPES, ni indwara idakunze kugaragara umuntu akivuka. Wowe n'itsinda ry'abaganga bawe mushobora guhangana n'iyi ndwara neza. Kubaga kugira ngo hakosorwe ibibazo by'amaso akenshi ni kimwe mu bigize gahunda yo kuvura.

Ubutumwa bwo kujyana mu rugo

Sawa, rero, ukurikije ibyo twaganiriyeho, ndizera ko ufite igitekerezo cyiza kuri 'Blepharophimosis Syndrome'. Wibuke:

• Iyi ni indwara iterwa na genetiki , ahanini yibasira amaso.
• Ibimenyetso by'ingenzi ni utuntu duto tw'amaso, amaso arekuye, amaso agaragara cyane, n'uruhu rupfundikiye imbere.
• Hari ubwoko bubiri (`Ubwoko bwa I` na`Ubwoko bwa II`) . Muri `Ubwoko bwa I`, intanga ngabo nazo zishobora kwibasirwa.
• Ibi ntibitera ubumuga bwo mu mutwe.
• Kubagwa bishobora kunoza imiterere n'imikorere y'amaso.
• Gusuzuma amaso buri gihe , kandi nibiba ngombwa, kuvurwa imisemburo ni ingenzi.

Ni ibisanzwe kumva ufite ubwoba no guhangayika iyo umenye ko umwana wawe afite iyi ndwara. Ariko ibuka ko utari wenyine. Ku bufasha bw'abaganga no kuvurwa neza, abantu benshi bashoboye kwihanganira iyi ndwara no kubaho ubuzima busanzwe. Rero, komeza ukomere kandi ushake inama z'abaganga zikenewe.

Blepharophimosis , BPES, Ibishishwa by'amaso, Indwara z'uturemangingo, Ptosis, Epicanthus Inversus, Ubuzima bw'amaso