All about Choroideremia: natna hmuh tur awm lo, mitdel zauh zauh thin

Zanah pawh i mit a chhe zual niin i hria em? A nih loh leh i peripheral vision, chu chu a sir lam hawia i hmuhna chu zawi zawiin a chhe zual zel em? A châng chuan heng thilte hi kan ngaihven vak lo a, mahse, a hnuaia dinhmun khirh tak chhinchhiahna a ni thei. Vawiin hian natna hmuh tur awm lo, mahse hriat a pawimawh em em, zawi zawiin mit a hloh thei a, mitdelna hial a thlen thei tih kan sawi dawn a ni. Hei hi choroideremia an ti a.

He choroideremia hi eng nge ni?

A awlsam zawngin sawi ila, Choroideremia hi mit natna hmuh tur awm lo, thlahtute atanga lo chhuak a ni a, genes hmanga kai theih a ni. Mit pahnih hmuhna a tichhe zauh zauh a, a tawpah chuan mitdelna a thlen thin. He natna hian mipa a tuar nasa zawk fo thin.

Mit natna dang `(Retinitis Pigmentosa) tih hi i hre tawh mai thei.` Tin, mittui tla zawi zawiin a tichak lo bawk. Mak tak maiin natna pahnih, `(Choroideremia)` leh `(Retinitis Pigmentosa) te symptoms leh test result thenkhat hi a inang thei hle. Chuvangin, heng natna pahnih zingah hian eng natna nge i neih tih chiang taka hriat theih dan tha ber chu `(genetic test).` tih hi a ni

Mit chhungah eng thil nge thleng? Hei hian engtin nge mit hmuhna a nghawng?

Kan mit chu camera mak tak tak ang mai a ni. Mit chhungah hian retina tih hmun pakhat a awm a. Hei hi photoreceptor cell an tih special cell awmna hmun a ni a, chu chuan light a hmu thei a ni. Heng cell te hian mit chhunga êng lut chu an la a, electric signal-ah an chantir a ni. Chumi hnuah chuan heng signal te hi thluak ah optic nerve kaltlangin an thawn chhuak thin a ni . Thluak hian heng signal te hmang hian kan hmuh thin lem te hi a siam thin.

Tunah chuan he retina hnung lamah hian mit (sclera) leh mit venna pawn lam khuhna dum (white protective outer covering) leh retina inkarah hian choroid tih layer a awm a. He choroid hi retina hian a ei tur a hmuhna hmun a ni a, chu chu thisen pe thei thisen kalna kawng a nei tihna a ni. Thlai pakhat tui leh chaw pek ang maiin han ngaihtuah teh.

Choroideremia-ah chuan choroid chhunga thisen kalna kawngte a chhe thin. Tichuan, retina hian thisen a dawng tlem avangin a chhe tan bawk. Hei hian kan peripheral vision a nghawng zual hle .

Choroideremia hi engtiang chiahin nge a hluar?

Hei hi natna hmuh tur awm lo tak a ni. A tlangpuiin, mi 100,000 zinga pakhat emaw, mi 50,000 zinga pakhat emaw chauhvin he natna hi an vei nia chhut a ni . Chumi awmzia chu kan ramah pawh he natna vei hi an tlem hle mai thei tihna a ni.

He natna lan chhuah dan engte nge ni? Hengte pawh hi i nei em tih en rawh.

Choroideremia symptoms hi a lang nghal lo. Zawi zawiin an lo thang chho zel a. A lan chhuah dan tlangpui thenkhat chu hetiang hi a ni:

• Zan lama mitdel (night blindness) hi a lan chhuah hmasak ber zinga mi a ni. A châng chuan naupang kum 10 hnuai lamah he natna hi a lang thei a, ngaihtuah teh, mi dangte hmuh ṭhat theihna hmun êng lo takah pawh heng mite hian an hmu ṭha thei lo.
• Peripheral vision chak lo tak. Chumi awmzia chu hmalam i en dik chuan a sir lam thil i hmu thei lo tihna a ni. Tunnel chhunga i thlir ang maiin a lang thei.
• Mit hmuhna a tlahniam. Thil chiang tak leh nasa taka hmuh theihna a tlahniam thin. Lehkha chhiar leh thil hla tak tak thliar hran a harsa mai thei.
• Rangkachak hriat chian theih lohna. A rawng lang dan pawh a danglam thei. A rawng thenkhat phei chu hriat harsa tak a ni thei.
• Zawi zawiin side vision chu a bo vek a, mitdelna a thlen thin. A tirah chuan side vision a tlahniam a, hun kal zelah central vision chauh a awm a, a tawpah chuan complete vision a bo thei bawk.

Pawimawh: Heng symptoms pakhat emaw a aia tam emaw i neih chuan choroideremia anga ngaih suh. Amaherawhchu, mit lam doctor pan vat a, enfiahna neih a pawimawh hle.

Engvangin nge Choroideremia hi a lo awm? Hrilhfiahna a ni em?

Ni e, kan sawi tawh ang khan Choroideremia hi genetic disease a ni. A dik tak chuan X-linked genetic disorder a ni.

Kan cell chhungah hian chromosome an tih thil kan nei vek a. Heng chromosome-ah hian kan genes te hi a awm a. Hmeichhia hian X chromosome pahnih (XX) an nei a. Mipa hian X chromosome pakhat leh Y chromosome pakhat (XY) an nei a.

Choroideremia thlentu gene chhia chu X chromosome-ah a awm a.

Tunah chuan hmeichhiain he gene chhia nei X chromosome pakhat nei mahse, X chromosome dang chu a hrisel a nih chuan nghawng a nei vak lo mai thei. Chuvangin, he gene chhia (`carriers`) nei hmeichhiate hian mipa angin choroideremia hi an tuar nasa lo tlangpui. Mahse, an upat deuh deuh chuan zan lama mitdel ang chi symptoms an nei thei bawk. Mahse, mitdel famkim hi a tlem hle.

Mahse, mipa erawh chuan X chromosome pakhat chauh an nei thung. Chuvangin, chu X chromosome-ah chuan he gene chhia hi an neih chuan choroideremia an vei theihna a sang zawk.

He natna vei mipa chuan a X chromosome chhia chu a fanute hnenah a pass thin . Chu fanute chu chu natna phurtu an lo ni ta a ni. Chu carrier daughter te chuan an fate hnenah X chromosome chhia chu an pe chhuak thei 50% (pahnih zinga pakhat) an nei a ni.

Engtin nge Choroideremia hi hriat theih? Eng test nge tih thin?

A chunga kan sawi tak symptoms te hi i neih chuan mit lam doctor pan ngei ngei tur a ni. I mit chu uluk takin a enfiah ang. Mit enfiah fo bakah hian test bik thenkhat tih tir i ni thei bawk a, chungte chu:

• Electroretinogram (ERG): He test hian i mit (retina) hian eng a chhan dan a teh thin. Test buaithlak tak angin lang mahse, a takah chuan a hrehawm vak lo. Electrode te te chu i hmaiah te, i mit vel ah te, i lu vunah te dah a ni. Tichuan, wire te tak te tak (lens pawh ni thei) chu i mit chhungah direct-in dah a ni a, i mitmeng hnuai lam chungah chiah a awm bawk. Chumi hnuah chuan room chu a thim a, i mitmengah êng hrang hrang an rawn eng a, i retina-a cell-te hnathawh dan an en a ni. Hei hian i retina hnathawh dan chungchangah thu hlu tak a pe thei a ni.
• Optical Coherence Tomography (OCT): Hei pawh hi natna nei lo, invasive lo test a ni bawk. I mit chhung lam scan ang mai a ni. I mit chhung lam, a bik takin retina leh choroid cross-sectional image la turin light beam bik a hmang a ni. Hei hian heng layer te thickness leh chhiatna an thlen theih dan chiang takin a tarlang thei a ni.
• Fluorescein Angiography: He test-ah hian i kut chhunga vein pakhatah dye bik inject a ni. Dye hian i mit chhunga thisen kalna kawng a kal lai hian camera bik hmangin i mit chhung lam thlalak a la thin. Hei hian choroid leh retina-a thisen kalna kawngte dinhmun, a chhiat leh thisen chhuah loh te chu a hriat theih nan a pui thei a ni.
• Genetic testing: Hei hi Choroideremia leh natna dang, a lan chhuah dan inang, Retinitis Pigmentosa ang chi te thliar hrangna rintlak ber a ni. Hei hian i naute pum chhunga i thisen, sam, vun, tissue, a nih loh leh a chang chuan amniotic fluid sample lak a, a chhunga gene awmte test a huam a ni. Hei hian Choroideremia thlentu gene-ah mutation i nei em tih hriat theih nan a pui thei a ni .

Choroideremia damdawi a awm em?

Vanduaithlak takin choroideremia hi damdawi a awm lo. Hei hian lungngaihna a thlen thei che a, mahse chu chu thil pangngai a ni.

Amaherawhchu, chu chuan engmah kan ti thei lo tihna erawh a ni lo. Natna hi tihdam theih ni lo mah se, he natna avanga harsatna dang kan enkawl thei a ni. Entir nan:

• Low vision strategies: Mit a tlahniam zauh zauh a, nitin hnathawhna atana pui thei tur hmanrua hrang hrang a awm a. Entirnan, magnifying glass te, lighting device bik te, leh talking watch te hi a ni.
• Rilru hriselna atana counseling: 1.1.Chutiang natna tihdam theih loh nena khawsak chu rilru lama harsatna a awm thei a, chuvangin rilru lam doctor emaw counselor emaw hnen atanga tanpuina lak a pawimawh hle.
• Genetic counselling: Hei hi genetic disease a nih avangin chhungkaw member dangte hriat chian nan leh nakin lawka kan thlahte a nghawng theih dan tur hriatthiam nan genetic counselling hi a tangkai hle.

Choroideremia vei hian eng ang hmalam hun nge a neih?

A tlangpuiin choroideremia vei chuan hun kal zelah an peripheral vision an hloh ang. A tawpah chuan central vision chauh a la awm thei. Chumi hnuah chuan mi thenkhat chu mitdel vek an ni thei. Hei hi mi tin a inang lo thei. Mi thenkhat chuan hun kal zelah an mit an hloh a, thenkhat erawh chuan hun kal zelah an hloh thung.

Hemi avang hian beidawng suh. Medical science hi ni tin hma a sawn zel a. Research thar leh enkawlna thar zawn a ni reng a.

Engtin nge ka in enkawl ang?

Choroideremia i vei tih hmuhchhuah ni tawh mah la, i in enkawl that theih nan thil i tih theih a awm. Nunphung hrisel neih hi a pawimawh hle a, hetiang dinhmunah pawh hian.

• Ei leh in tha tak ei rawh. Thlai hring, thei leh sa thau lo ei tam zawk rawh. A theih ang anga chi, sugar leh thau hrisel lo tam lutuk tihtlem thin ang che.
• Exercise tling tawk la. Nitin kalna ang chi thil awlsam tak pawh hi a tha.
• Meizial i zu a nih chuan bansan rawh. Meizial zuk hi i mit tan chauh ni lovin, i taksa pum tan pawh a tha lo.
• I mit enfiah turin mit doctor hmu fo ang che. Chutiang chuan i dinhmun dinhmun leh enkawlna thar i zir thei ang.
• Mut tawk rawh.

Engtikah nge Doctor ka hmuh ang?

I mit hmuh danah danglamna i hmuh chuan, zan lama mit hmuhna tlahniam, peripheral vision tlahniam, emaw, mit hmuhna fiah lo emaw, doctor pan nghal rawh. A bik takin mit hmuhna inthlak danglam nghal emaw, mit na emaw i neih chuan hei hi medical emergency a ni thei.

Tin, nitin hna thawh harsa i tih chuan chu pawh chu i doctor nen inbia ang che. Gene therapy trial ang chi thila tel thei tur i nih leh nih loh zawh hi a tha mai thei .

Choroideremia leh Gyrate Atrophy of the Choroid leh Retina te hi eng nge an danglamna?

Heng natna pahnihte hi genetic condition a ni. A symptoms pawh a inang thei. Mahse, an pahnih inkarah hian danglamna chiang tak a awm.

• Inheritance pattern: Choroideremia hi X nena inzawm natna a ni. Chumi awmzia chu X chromosome hmanga rochun a ni tihna a ni. Gyrate Atrophy of the Choroid leh Retina hi autosomal recessive natna a ni a, a natna hi a ni. Chumi awmzia chu naupangin natna a neih theih nan chuan nu leh pa hnen atangin gene chhia chu a rochun a ngai tihna a ni.
• Mutated gene: Natna pahnih thlentu gene mutation pawh a inang lo.

Hemi atanga kan zir tur pawimawh ber berte (Take-Home Message) .

Choroideremia hi natna hmuh tur awm lo, tihdam theih loh a ni a, zawi zawiin mitdelna leh mitdelna thlengin a thlen thei tih hi a dik a ni. Chutiang natna i vei tih i hriat chuan rilru inhmeh lo (mixed feelings) neih hi thil pangngai a ni.

Mahse, nangmah chauh i ni lo tih hre reng ang che. I medical team nen hian inzawmna nghet tak nei rawh. Nangmah thlawp turin an awm reng a ni. Choroideremia enkawlna leh damdawi zawng chhuak turin zirchianna kalpui mek a ni a, chubakah genetic natna dangte pawh hmuh theih a ni bawk. Tin, i mamawhna atana pui thei tur resources leh service te pawh a awm tawh bawk. Midangte tanpuina pawm hian i nun a ti awlsam deuh thei a ni.

Beiseina nei reng rawh. Damdawi lam thiamna a lo thang chho zel a, nakin lawkah chuan enkawlna thar a lo chhuak thei a ni.

` Choroideremia, mit natna, mit hmuhna hloh, genetic natna, zan lama mitdel, retina, choroid, X-linked, genetic testing, mitdel