Zonse zokhudza Choroideremia: matenda osowa omwe amachititsa kuti maso asamaone bwino pang'onopang'ono

Kodi mumamvanso kuti maso anu akuipiraipira usiku? Kapena maso anu akuzungulira, kutanthauza kuti, maso anu akuzungulira, akuipiraipira pang'onopang'ono? Nthawi zina sitisamala kwambiri zinthuzi, koma zitha kukhala chizindikiro cha vuto lalikulu. Lero tikambirana za matenda osowa, koma ofunikira kwambiri kudziwa, omwe amatha kutaya maso pang'onopang'ono komanso kubweretsa khungu. Izi zimatchedwa choroideremia.

Kodi choroideremia iyi ndi chiyani?

Mwachidule, Choroideremia ndi matenda osowa, obadwa nawo a maso omwe amafalikira kudzera m'majini. Amachititsa kuti maso onse awiri aziona pang'onopang'ono, zomwe zimapangitsa kuti asamaone bwino. Matendawa nthawi zambiri amakhudza amuna kwambiri.

Mwina munamvapo za matenda ena a maso otchedwa `(Retinitis Pigmentosa).` Amachititsanso kuti retina ifooke pang'onopang'ono. Chodabwitsa n'chakuti, zizindikiro ndi zotsatira zina za mayeso a matenda onse awiri, `(Choroidemia)` ndi `(Retinitis Pigmentosa), zitha kukhala zofanana. Chifukwa chake, njira yabwino yodziwira bwino matenda awiriwa ndikupeza `(mayeso a majini).`

Kodi chimachitika n’chiyani mkati mwa diso? Kodi izi zimakhudza bwanji masomphenya?

Maso athu ali ngati makamera odabwitsa. Mkati mwa diso, muli gawo lotchedwa retina . Apa ndi pomwe pali maselo apadera otchedwa ma photoreceptor cell omwe amatha kuzindikira kuwala. Maselo awa amatenga kuwala komwe kumalowa m'diso ndikukusintha kukhala zizindikiro zamagetsi. Zizindikirozi zimatumizidwa ku ubongo kudzera mu mitsempha ya optic . Ubongo umagwiritsa ntchito zizindikirozi popanga zithunzi zomwe timawona.

Tsopano, kumbuyo kwa retina iyi, pakati pa chophimba choyera chakunja cha diso (sclera) ndi retina, pali gawo lotchedwa choroid . Choroid iyi ndi komwe retina imapeza chakudya chake, ndiko kuti, ili ndi mitsempha yamagazi yomwe imaipatsa magazi. Taganizirani ngati kupereka madzi ndi chakudya ku chomera.

Mu choroideremia, mitsempha yamagazi mu choroid imawonongeka. Kenako, retina silandira magazi okwanira, kotero imayambanso kuwonongeka. Izi zimakhudza makamaka masomphenya athu a m'mbali .

Kodi matenda a Choroideremia ndi ofala bwanji?

Uwu ndi matenda osowa kwambiri. Mwachidule, akuti munthu m'modzi yekha pa anthu 100,000 kapena m'modzi pa anthu 50,000 ndi amene amadwala matendawa . Izi zikutanthauza kuti ngakhale m'dziko lathu, pakhoza kukhala anthu ochepa kwambiri omwe ali ndi matendawa.

Kodi zizindikiro za matendawa ndi ziti? Onani ngati muli nazonso.

Zizindikiro za choroideremia sizimaonekera mwadzidzidzi. Zimakula pang'onopang'ono. Nazi zina mwa zizindikiro zazikulu:

• Kusawona bwino usiku (usiku) ndi chimodzi mwa zizindikiro zoyamba. Nthawi zina chizindikirochi chingawonekere mwa ana osakwana zaka 10. Tangoganizirani, ngakhale pamalo opanda kuwala kwenikweni pomwe ena amatha kuona bwino, anthuwa sangathe kuwona bwino.
• Kuona kofooka m'mbali mwa msewu. Izi zikutanthauza kuti mukayang'ana patsogolo, simungathe kuwona zinthu m'mbali. Zingamveke ngati mukuyang'ana kudzera mu ngalande.
• Kuchepa kwa luso la kuona. Kutha kuona zinthu momveka bwino komanso modzidzimutsa kumachepa. Zingakhale zovuta kuwerenga zilembo ndi kusiyanitsa zinthu zakutali.
• Kulephera kuzindikira mitundu moyenera. Momwe mitundu imaonekera ingasinthe. Mitundu ina ingakhale yovuta kuizindikira.
• Pang'onopang'ono, masomphenya am'mbali amatayika kwathunthu, zomwe zimapangitsa kuti munthu asamaone bwino. Poyamba, masomphenya am'mbali amachepa, pakapita nthawi masomphenya apakati okha ndi omwe amatsala, ndipo pamapeto pake, masomphenya athunthu amatha kutayika.

Chofunika: Ngati muli ndi chimodzi mwa zizindikiro izi kapena zingapo, musaganize kuti ndi choroideremia. Komabe, ndikofunikira kwambiri kupita kwa dokotala wa maso nthawi yomweyo kuti akakufufuzeni.

Kodi ndi chifukwa chiyani matenda a Choroideremia amapezeka? Kodi ndi obadwa nawo?

Inde, monga tanenera kale, Choroideremia ndi matenda a majini. Kunena zoona, ndi matenda a majini olumikizidwa ndi X.

Tonsefe tili ndi zinthu zotchedwa ma chromosome mkati mwa maselo athu. Ma chromosome amenewa ali ndi majini athu. Azimayi ali ndi ma chromosome awiri a X (XX). Amuna ali ndi chromosome imodzi ya X ndi chromosome imodzi ya Y (XY).

Jini lolakwika lomwe limayambitsa choroideremia limapezeka pa chromosome ya X.

Tsopano, ngakhale mkazi atakhala ndi chromosome imodzi ya X yokhala ndi jini yolakwika iyi, ngati chromosome inayo ya X ili ndi thanzi, mwina sizingakhale ndi zotsatirapo zambiri. Chifukwa chake, akazi omwe ali ndi jini yolakwika iyi ('onyamula') nthawi zambiri samavutika kwambiri ndi choroideremia monga amuna. Komabe, amathanso kukhala ndi zizindikiro monga khungu la usiku akamakula. Komabe, khungu lathunthu ndi losowa kwambiri.

Komabe, amuna ali ndi chromosome imodzi yokha ya X. Choncho, ngati ali ndi jini yolakwika iyi pa chromosome ya X, amakhala ndi mwayi waukulu wopeza choroideremia.

Mwamuna amene ali ndi matendawa amapereka chromosome yake ya X yolakwika kwa ana ake aakazi . Ana aakazi amenewo amakhala onyamula matendawa. Ana aakazi omwe ali ndi matendawa ali ndi mwayi wa 50% (mmodzi mwa awiri) wopatsira ana awo chromosome ya X yolakwika.

Kodi matenda a Choroideremia amapezedwa bwanji? Kodi mayeso otani amachitidwa?

Ngati muli ndi zizindikiro zilizonse zomwe zatchulidwa pamwambapa, muyenera kuwonana ndi dokotala wa maso. Iye adzayang'ana maso anu bwino. Kuwonjezera pa kuyezetsa maso nthawi zonse, mungapemphedwe kuti muchite mayeso apadera, monga:

• Electroretinogram (ERG): Kuyesa kumeneku kumayesa momwe retina yanu imayankhira kuwala. Ngakhale kungawoneke ngati kuyesa kovuta, kwenikweni sikupweteka kwambiri. Ma electrode ang'onoang'ono amayikidwa pankhope panu, mozungulira maso anu, ndi pamutu panu. Kenako, waya woonda kwambiri (mwina lenzi) umayikidwa mwachindunji m'diso lanu, pamwamba pa chikope chanu chapansi. Kenako chipindacho chimadetsedwa ndipo magetsi osiyanasiyana amawalitsidwa m'maso mwanu kuti muwone momwe maselo a retina yanu akugwirira ntchito. Izi zingapereke chidziwitso chofunikira chokhudza momwe retina yanu ikugwirira ntchito.
• Kujambula kwa Optical Coherence Tomography (OCT): Iyi ndi njira yoyesera yopanda ululu, yosavulaza. Ili ngati kusanthula mkati mwa diso lanu. Imagwiritsa ntchito kuwala kwapadera kuti ijambule zithunzi za mkati mwa diso lanu, makamaka retina ndi choroid. Izi zitha kuwonetsa bwino makulidwe a zigawozi ndi kuwonongeka kulikonse komwe kungachitike.
• Fluorescein Angiography: Mu mayesowa, utoto wapadera umalowetsedwa mu mtsempha womwe uli m'dzanja lanu. Pamene utotowo ukuyenda m'mitsempha yamagazi yomwe ili m'diso lanu, kamera yapadera imajambula zithunzi za mkati mwa diso lanu. Izi zingathandize kuona momwe mitsempha yamagazi ilili mu choroid ndi retina, monga ngati yawonongeka kapena yatuluka magazi.
• Kuyesa majini: Iyi ndi njira yodalirika kwambiri yosiyanitsira Choroideremia ndi matenda ena omwe ali ndi zizindikiro zofanana, monga Retinitis Pigmentosa. Izi zimaphatikizapo kutenga chitsanzo cha magazi anu, tsitsi, khungu, minofu, kapena nthawi zina madzi amniotic kuchokera kwa mwana wanu m'mimba, ndikuyesa majini omwe ali mmenemo. Izi zingathandize kudziwa ngati muli ndi kusintha kwa majini komwe kumayambitsa Choroideremia.

Kodi pali chithandizo cha Choroideremia?

Mwatsoka, palibe mankhwala a choroideremia. Izi zingakupangitseni kumva chisoni, koma zimenezo n'zachibadwa.

Komabe, sizikutanthauza kuti sitingathe kuchita chilichonse. Ngakhale kuti matendawa sangachiritsidwe, tikhoza kuchiza mavuto ena oyambitsidwa ndi matendawa. Mwachitsanzo:

• Njira zochepetsera kuona: Pamene maso akuchepa pang'onopang'ono, pali zipangizo zosiyanasiyana zomwe zingathandize pa ntchito za tsiku ndi tsiku. Zitsanzo zikuphatikizapo magalasi okulitsira, zipangizo zapadera zowunikira, ndi mawotchi olankhula.
• Uphungu wa thanzi la maganizo:Kukhala ndi matenda osachiritsika otere kungakhale kovuta m'maganizo, choncho ndikofunikira kwambiri kufunafuna thandizo kwa dokotala wa matenda amisala kapena mlangizi.
• Uphungu wa majini: Popeza uwu ndi matenda a majini, uphungu wa majini ndi wothandiza kwambiri podziwitsa achibale ena za izi komanso kumvetsetsa momwe zingakhudzire mibadwo yamtsogolo.

Kodi munthu amene ali ndi matenda a Choroideremia ali ndi tsogolo lotani?

Kawirikawiri, munthu amene ali ndi choroideremia amataya masomphenya ake a m'mbali mwa thupi pakapita nthawi. Pamapeto pake, masomphenya apakati okha ndi omwe angatsale. Pambuyo pake, anthu ena amatha kukhala akhungu kwathunthu. Izi zimatha kusiyana malinga ndi munthu. Anthu ena amataya masomphenya awo pakapita nthawi, pomwe ena amataya masomphenyawo pakapita nthawi.

Musataye mtima ndi izi. Sayansi ya zamankhwala ikupita patsogolo tsiku ndi tsiku. Kafukufuku watsopano ndi mankhwala atsopano akufunidwa nthawi zonse.

Kodi ndimadzisamalira bwanji?

Ngakhale mutapezeka kuti muli ndi choroideremia, pali zinthu zomwe mungachite kuti mudzisamalire bwino. Kukhala ndi moyo wathanzi n'kofunika kwambiri, ngakhale muli ndi vutoli.

• Idyani zakudya zabwino zopatsa thanzi. Idyani ndiwo zamasamba zobiriwira, zipatso, ndi nyama zopanda mafuta ambiri. Chepetsani mchere wochuluka, shuga, ndi mafuta osapatsa thanzi momwe mungathere.
• Chitani masewera olimbitsa thupi okwanira. Ngakhale kuyenda tsiku lililonse n'kwabwino.
• Ngati mukusuta, siyani kusuta. Kusuta sikuti ndi koipa maso anu okha, komanso thupi lanu lonse.
• Pitani kwa dokotala wa maso nthawi zonse kuti akakuwoneni maso. Mwanjira imeneyi, mutha kudziwa za momwe matenda anu alili komanso njira zatsopano zochiritsira.
• Gonani mokwanira.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati muwona kusintha kulikonse m'maso mwanu, monga kuchepa kwa masomphenya usiku, kuchepa kwa masomphenya a m'mbali, kapena kusawona bwino, pitani kwa dokotala nthawi yomweyo. Makamaka ngati mukuwona kusintha kwadzidzidzi kwa masomphenya kapena kupweteka kwa maso, izi zitha kukhala zadzidzidzi zachipatala.

Komanso, ngati zikukuvutani kuchita zinthu zanu za tsiku ndi tsiku, lankhulani ndi dokotala wanu za zimenezo. Kungakhale bwino kufunsa ngati muli oyenerera kutenga nawo mbali mu zinthu monga mayeso a jini .

Kodi pali kusiyana kotani pakati pa Choroideremia ndi Gyrate Atrophy ya Choroid ndi Retina?

Matenda onsewa ndi matenda a majini. Zizindikiro zake zitha kukhala zofanana. Komabe, pali kusiyana kwakukulu pakati pa awiriwa.

• Chikhalidwe cha Cholowa: Choroideremia ndi matenda olumikizidwa ndi X. Izi zikutanthauza kuti amabadwa nawo kudzera mu chromosome ya X. Gyrate Atrophy of the Choroid ndi Retina ndi matenda obwera chifukwa cha autosomal recessive . Izi zikutanthauza kuti kuti mwanayo adwale matendawa, ayenera kulandira jini yolakwika kuchokera kwa mayi ndi bambo.
• Jini yosinthika: Kusintha kwa majini komwe kumayambitsa matenda onsewa ndi kosiyana.

Zinthu zofunika kwambiri zomwe tiyenera kuphunzira kuchokera pa izi (Uthenga Wopita Nawo Kunyumba)

N’zoona kuti matenda a choroideremia ndi matenda osowa, osachiritsika omwe pang’onopang’ono angayambitse kulephera kuona bwino komanso ngakhale khungu. Ndizachibadwa kukhala ndi malingaliro osiyanasiyana mukazindikira kuti muli ndi matenda otere.

Koma kumbukirani kuti simuli nokha. Khalani ndi ubale wolimba ndi gulu lanu lachipatala. Alipo kuti akuthandizeni. Kafukufuku akupitilira kuti apeze chithandizo ndi machiritso a choroideremia, komanso matenda ena a majini. Ndipo, pali kale zinthu ndi ntchito zomwe zingakuthandizeni pa zosowa zanu. Kulandira thandizo la ena kungapangitse moyo wanu kukhala wosavuta.

Khalani ndi chiyembekezo nthawi zonse. Ndi kupita patsogolo kwa sayansi ya zamankhwala, njira zatsopano zochiritsira zitha kuonekera mtsogolo.

Choroideremia , matenda a maso, kulephera kuona, matenda a majini, khungu la usiku, retina, choroid, X-linked, kuyezetsa majini, khungu