Ko maziso emwana wako ane shanduko yakadaro here? Ngatidzidzei nezve (Blepharophimosis Syndrome)!

Dzimwe nguva ungave wakaona kuti maziso evana vadiki akaiswa nenzira isinganzwisisike. Pamwe kuvhurika kwemaziso kudiki, kana kuti maziso anoita seakarembera. Kuona chimwe chinhu chakadai kunogona kukuita kuti utye zvishoma saamai. Panguva dzakadaro, zvakakosha zvikuru kuziva nezvechirwere ichi chatiri kuda kutaura nezvacho, kureva, Blepharophimosis Syndrome.

Chii chinonzi Blepharophimosis Syndrome? Zvichitaurwa zviri nyore...

Ichi chirwere chemajini chinokanganisa maitiro emaziso ako. Funga nezvazvo, maziso edu ndiwo anonyanya kukosha anodzivirira ziso. Saka, kuvhurika kwemaziso emunhu ane chirwere ichi, kureva kuti, mukaha uri pakati pemaziso, kwakamanikana kupfuura munhuwo zvake. Zvakare, maziso ekumusoro anoita semaziso akarembera . Chimwe chinhu ndechekuti mukati meziso, kureva kuti, parutivi rwemhino, unogona kuona ganda diki kubva paziso rezasi kusvika paziso repamusoro.

Chikonzero cheizvi kuchinja kwemajini kunonzi `FOXL2`, kana kuti sekudanwa kwazvinoitwa navanachiremba , shanduko . Chimwe chinhu chakakosha ndechekuti maovari evakadzi vane iyi `Blepharophimosis Syndrome` anogonawo kukanganiswa.

Kune rimwe zita refu rinoshandiswa navanachiremba pakuita izvi, iro rinonzi `Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome`. Rinonziwo `BPES` kana tichitsanangura. Vamwe vanogonawo kuidana kuti ``small eye opening syndrome.`` Ichi chirwere chekuzvarwa nacho , zvichireva kuti mwana anogona kuona zviratidzo izvi pakuzvarwa.

Izwi rekuti "blepharophimosis" rinotaurwa richinzi "bleph-a-ro-phi-mo-sis." Zvinonzwika zvakaoma, handiti? Asi hazvina kuipa, ngatitii `BPES` kuti zvive nyore.

Kune mhando dzeizvi here? (Mhando dzeBPES)

Ehe, kune mhando mbiri huru dze "BPES" idzi. Idzi ndiType I neType II .

Kune zvimwe zvinhu zvakafanana zvemarudzi ese ari maviri:

• Maburi emaziso madiki pane akajairwa (blepharophimosis) .
• Maziso akarembera (ptosis) .
• Maziso akapararira zvakanyanya kupfuura zvakajairika (telecanthus) .
• Ganda rinopetwa rinopinda mudenga nechomukati meziso rezasi, kureva kuti, rakananga kumhino (epicanthus inversus) .

Zvino ngationei kuti ndeapi musiyano chaiwo uripo pakati pemhando mbiri idzi.

BPES Rudzi I

Kana uine BPES type I, inogona kukonzera chirwere chinonzi Primary Ovarian Insufficiency (POI) . Vamwe vanhu vanoti izvi "premature ovarian failure." Zvichitaurwa zviri nyore, ndipo apo maovari emukadzi anomira kushanda nguva isati yakwana.

BPES Rudzi rwechipiri (BPES Rudzi rwechipiri)

Asi kana uine BPES type II, hazvikonzeri mamwe matambudziko mumuviri wako, zvichireva mamwe matambudziko makuru anokanganisa muviri wese. Zviratidzo zvinoonekwa chete ndezviya zvine chekuita nemaziso.

Chirwere cheblepharophimosis chakajairika zvakadii?

Pasi rose, chirwere ichi chinonzi `Blepharophimosis Syndrome` chinoonekwa pahuwandu hwemunhu mumwe chete pavana 50,000 vanozvarwa . Izvi zvinoreva kuti chirwere ichi hachiwanzoitiki.

Ndezvipi zviratidzo zve blepharophimosis syndrome?

Zviratidzo zve "Blepharophimosis Syndrome" iyi zvinonyanya kukanganisa chitarisiko chemaziso ako. Yeuka zviratidzo zvikuru zvina zvatataura nezvazvo kare:

• Maziso madiki.
• Maziso emeso akarembera ( Ptosis ).
• Maziso akapfava (Telecanthus).
• Ganda rinopetwa rinopetwa pamaziso emukati memaziso epasi (maziso emukati memaziso epasi anopetwa - Epicanthus Inversus).

Chimbofungai, zviratidzo izvi zvinogona kuchinja chitarisiko chechiso chemwana zvishoma. Zvakajairika kuti vabereki vanzwe kunetseka pavanoona izvi. Asi musazvidya mwoyo, pane zvinhu zvinogona kuitwa nezvazvo.

Kuwedzera kune izvi zvinhu zvikuru, mamwe maitiro anogona kuonekwa:

• Ectropion (kutendeudza mboni yeziso kunze).
• Strabismus, inozivikanwawo se "maziso akapatsanurwa ", idambudziko rekuti maziso anopatsanurwa.
• Amblyopia , iyo inokonzerwa nemaziso akarembera anovhara kuona. Kutaura chokwadi, maziso anovhara kuona.
• Nzeve dzakamanikana , dzinozivikanwawo se "nzeve dzekapu" kana "nzeve dzinocheka," zvinoreva kuti mipendero yenzeve inogona kunge yakakombama kana kupetwa.
• Nzeve dzakadzika.
• Zambuko rakafara remhino.
• Mukana uri pakati pemhino nemuromo wepamusoro mudiki pane zvakajairika.
• Vanhu vane rudzi rwekutanga (type I) vane primary ovarian insufficiency (POI).

Sei izvi zvichiitika? Ndezvipi zvinokonzera? (Chii chinokonzera blepharophimosis syndrome?)

Chikonzero chikuru cheiyi `Blepharophimosis Syndrome` kuchinja kana kuchinja kwejini kunonzi `FOXL2`. Izvi zvinotapuriranwa kuburikidza nemajini nenzira inotonga yega yega .

Zvichitaurwa zviri nyore, izvi zvinoreva kuti kunyangwe mubereki mumwe chete ane jini iri rakachinjwa (rakachinja), mwana anogona kurigara nhaka.Zvisinei, vamwe vanhu vanogona kuva nechirwere ichi kekutanga vasina kuchigara nhaka kubva kuvabereki vavo. Muzviitiko zvakadaro, vanachiremba vanoti i "mutation" itsva kana kuti itsva yemajini, zvichireva kuti haina kugara nhaka kubva kumubereki ane chirwere ichi.

Mamwe matambudziko anogona kuitika nekuda kweizvi (Ndeapi matambudziko e blepharophimosis syndrome?)

Blepharophimosis inogona kukanganisa kuona kwako . Uri panjodzi yakakura yekukanganisa kuona zvakanaka , izvo zvinogona kukonzera kurasikirwa nekuona uri kure kana pedyo.

Zvikuru sei, vacheche nevana vadiki vane ptosis yakanyanya (chirwere chinonzi lazy eye) vanogona kuva nechirwere chinonzi amblyopia . Izvi zvinokonzerwa nekuti maziso emaziso anovhara kuona kwavo, zvichitadzisa uropi kugamuchira zviratidzo kubva kuziso iroro. Kana izvi zvikarapwa nekukasika, kuona muziso iroro kunogona kukanganisika zvachose.

Izvi zvinoonekwa sei? (Dambudziko reblepharophimosis rinoonekwa sei?)

Chiremba wako angafungidzira kuti une Blepharophimosis Syndrome mushure mekuona zviratidzo zvina zvikuru zvekurapa zvatakakurukura pakutanga uye mushure mekuongororwa maziso. Nyanzvi yezvekuchengetedza maziso inogona kuita mimwe yemiedzo iyi kana yese:

• Kuongororwa kwekuona: Izvi zvinosanganisira kukukumbira kuti uverenge mabhii ari pachati. Kuongororwa uku kunogona kubatsira chiremba wako kuona kana uine zvikanganiso zvekusagona kuona zvakanaka, zvakaita sekuona zviri pedyo kana kuona zviri kure.
• Kuongororwa kwemaziso ane usimbe (Amblyopia) uye strabismus .
• Kuongororwa kweropa kuti uone huwandu hwemahormone ekubereka (kunyanya kana paine chinofungidzirwa kuti rudzi rwekutanga).
• Kuongororwa kwemajini : Izvi zvinogona kusimbisa kana paine shanduko mujini re'FOXL2'.

Mishonga yacho ndeipi? (Dambudziko reblepharophimosis rinorapwa sei?)

Blepharophimosis Syndrome inowanzo shandiswa kuvhiyiwa panguva yehudiki . Pakati pemakore matatu nemashanu, kuvhiyiwa kunoitwa kugadzirisa mamiriro ezvinhu anonzi epicanthus inversus (kupeta kweganda remukati memaziso) uye telecanthus (maziso ari kure). Zvadaro, gore rimwe chete gare gare, chiremba anovhiya zvakare kugadzirisa eyelid yakarembera (ptosis). Dzimwe nguva kuvhiyiwa uku kwese kunogona kuitwa panguva imwe chete, asi izvi hazviwanzoitiki.

Kuvhiyiwa uku hakungoitirwi chete kuti maziso aonekwe zvakanaka, asiwo kubatsira mwana kuti aone zvakanaka. Nekuti kana maziso emaziso akavharwa, kuona hakuzooneki zvakanaka.

Kana uine BPES type I, zvinoreva kuti Primary Ovarian Insufficiency, chiremba wako anogona kukukurudzira kuti utore mushonga wekutsiva mahormone , kunyanya estrogen supplements. Zvisinei, zvakakosha kuyeuka kuti mishonga iyi haigadzirise kushaya mbereko . Unofanira kukurukura izvi nenyanzvi yehutano hwekubereka.

Pane nzira yekudzivirira izvi kuti zvisaitike here? (Ndingaderedza sei njodzi yangu yekubatwa ne blepharophimosis syndrome?)

Hapana nzira chaiyo yekudzivirira Blepharophimosis Syndrome, sezvo iri chirwere chemajini. Zvisinei, kana mumwe munhu mumhuri yako aine chirwere ichi, zvakanaka kufunga nezvemajini ekupa mazano usati wava nemwana. Nenzira iyi, unogona kudzidza zvakawanda nezvacho uye kutaura nezvenjodzi yekuti mwana wako agare nhaka chirwere ichi.

Chii chandingatarisira kana ndine blepharophimosis syndrome?

Kana uine Blepharophimosis Syndrome, unofanira kuongororwa maziso nguva nenguva . Izvi zvinogona kubatsira kuona kana maziso ako akanaka uye kana paine mamwe matambudziko.

Kana uine chirwere cherudzi rwekutanga (type I), unofanira kutaura nachiremba we endocrinologist kana nyanzvi yehutano hwekubereka nezvematambudziko emahormone nekushaya mbereko.

Chirwere cheBlepharophimosis chinogona kurapwa, asi hachigone kurapwa. Izvi zvinoreva kuti, kunyange zvazvo kuvhiyiwa kuchigona kudzorera chitarisiko nekushanda kwemaziso kusvika pamwero wakati, hachigone kuchinja chikonzero chemajini.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Zvakanaka kubvunza chiremba wako mibvunzo yakaita seiyi:

• Ndinofanira kuongororwa maziso angu kangani?
• Munokurudzira mazano ezvemajini here?
• Ndezvipi mazano amungapa ekugadzirisa matambudziko ekushaya mbereko?
• Mumamiriro ezvinhu api aunofanira kuenda kuchipatara nekuda kwedambudziko iri?

Ndeupi musiyano uripo pakati peBlepharophimosis intellectual disability syndrome neizvi?

Izvi zvinovhiringidzawo zvishoma, saka zvakanaka kutsanangura. Vanhu vane zvirwere zvinonzi `Blepharophimosis intellectual disability syndromes` vanogonawo kuona maziso akarembera uye maburi madiki pane akajairwa emaziso. Zvisinei, havaoni `telecanthus` (maziso akaparadzaniswa zvakanyanya) kana `epicanthus inversus` (mapete eganda remukati).

Chinhu chinonyanya kukosha ndechekuti vanhu vane `Blepharophimosis intellectual disability syndromes` vanonoka kukura kwepfungwa.Mienzaniso yeizvi inosanganisira zvirwere zvinonzi `Ohdo syndrome` uye `Say-Barber-Biesecker-Young-Simpson syndrome.` Masayendisiti anofungidzira kuti kune vanhu vasingasviki chiuru muUnited States vane zvirwere izvi zvekuremara kwepfungwa.

Zvisinei, avo vane `Blepharophimosis Syndrome (BPES)` yatiri kutaura nezvayo havana hurema hwepfungwa. Uyu ndiwo musiyano mukuru.

Blepharophimosis Syndrome, kana kuti BPES, chirwere chisingawanzoitiki chinowanikwa pakuzvarwa. Iwe nechikwata chako chekurapa munogona kugadzirisa dambudziko iri zvakanaka. Kuvhiyiwa kwekugadzirisa matambudziko emaziso kunowanzo kuve chikamu chechirongwa chekurapa.

Mharidzo Yekuenda Nayo Kumba

Zvakanaka, saka, kubva pane zvatakurukura, ndinovimba une pfungwa yakanaka nezve `Blepharophimosis Syndrome`. Yeuka:

• Ichi chirwere chemajini , chinonyanya kukanganisa maziso.
• Zviratidzo zvikuru maziso madiki, maziso akarembera, maziso akareruka, uye ganda rakapetana mukati.
• Kune mhando mbiri (`Rudzi I` ne`Rudzi II`) . Mu`Rudzi I`, maovari anogonawo kukanganiswa.
• Izvi hazvikonzeri kuremara kwepfungwa.
• Kuvhiyiwa kunogona kuvandudza chitarisiko uye mashandiro emaziso.
• Kuongororwa maziso nguva dzose uye, kana zvichidikanwa, kurapwa nemahormone kwakakosha.

Zvakajairika kuti unzwe kutya uye kunetseka paunoona kuti mwana wako ane chirwere ichi. Asi yeuka, hausi wega. Nekubatsira kwavanachiremba uye kurapwa kwakakodzera, vanhu vazhinji vakakwanisa kurarama nechirwere ichi uye kurarama hupenyu hwakajairika. Saka, ramba wakasimba uye tsvaga mazano ekurapa anodiwa.

` Blepharophimosis, BPES, Maziso, Zvirwere zveMajini, Ptosis, Epicanthus Inversus, Hutano hweMaziso