I mit a chhe zauh zauh em? He (Cone-Rod Dystrophy) chungchang hi i zir chiang ang u!

Nangmah emaw, i hriat mi emaw, a bîk takin naupan lai aṭang tawhin i mit hmuhna lama inthlâk danglamna, mit hmuh lohna emaw, êng hriatna emaw ang chite chu i tawng tawh em? A nih loh leh rawng thliar hran harsa i ti em? A châng chuan heng thilte hi a awlsam thei hle. Vawiin hian mit natna rare tak, ngaihven tlem ngai, mahse mi tam takin an hriat loh chungchang kan sawi dawn a ni. Hei hi `(Cone-Rod Dystrophy)` emaw `(CRD)` emaw an ti a.

Cone-Rod Dystrophy hi eng nge ni?

A awlsam zawngin sawi ila, `(Cone-Rod Dystrophy)` hi kan mit chhunga kan mit (retina) peng (retina part) tichhe thei natna a ni. Hemiah hian thil thleng chu kan mit hmuhna chu zawi zawiin, chu chu zawi zawiin a chak lo zawk tihna a ni. A châng chuan, chu chuan mit hmuhna a hloh vek thei a, mitdelna pawh a thlen thei bawk . Hei hi thil lungchhiatthlak tak a ni.

Hetianga mit hmuhna hloh chhan ber chu kan mit (retina)-a light-sensitive cell chi hnih, cone leh rod an tih te a chhiat vang a ni. A dik tak chuan heng cell te hi an thi zauh zauh thin. ``Cone-Rod Dystrophy'' tih thumal ``Dystrophy'' tih hian heng cell te hi an chhe zauh zauh tihna a ni.

Ngaihtuah teh, kan mit hi camera ang a nih chuan heng cone cell ``(Cones)`` leh rod cell ``(Rods)`` te hi chu camera ``(film)``-a dot te tak te ang mai an ni. Eng mantu, rawng hrechhuaktu, lem siamtu, kan thluak lama thawn chhuaktu an ni.

• Cones: Heng cell te hi rawng kan hmuh theih nan min puitu an ni , tin, mit hmuhna fiah tak, chiang tak an pe bawk (a bik takin hmalam kan thlir dik hian) .
• Rods: Hengte hian thimah leh peripheral vision-ah min pui a, chu chu kan hmaa awm lo thilte tihna a ni .

CRD-ah chuan cone cells hi a chhiat hmasak ber a ni tlangpui a, mahse a chang chuan cell chi hnih hi a rualin a chhe thei a ni.

He natna, ``(CRD)`` tia koh hi a tlem hle , mi zawng zawng nghawng thei natna a ni lo tihna a ni. Tin, genetic , a ni fo bawk a, chu chu thlah khat atanga thlah danga inthlak danglam thin thil a ni tihna a ni. He natna hi naupan lai emaw puitling tirh lamah emaw a intan tlangpui .

Hei hi eng symptoms nge ni tih i hria em?

CRD natna lan chhuah dan hi mi hrang hrangah a inang lo deuh thei a, mahse a lan chhuah dan tlangpui thenkhat chu hmuh theih a awm. Chungte chu hun kal zelah a pung zel thin.

• Mit lairil lama chak lohna: Hei hi a lan chhuah hmasak ber a ni fo. Naupan lai atanga intan a ni tlangpui. A dik tak chuan direct-a hmuh chu a fiah lo niin a lang.
• Photophobia: Eng êng tak laka sensitivity nasa tak neia inhriatna: Ni emaw, eng emaw a chhuah lai hian hmuh a harsa a, mit chu a sen vek ang maiin a lang.
• Rangkachak thliar hran harsa: Hun kal zelah rawng chu a lang lo thei a, rawng mitdelna pawh a thlen thei bawk .
• Zan lama mitdelna (Nyctalopia): Zan lamah chuan êng tlem zawkna hmunah chuan mit a chhe hle.
• Peripheral vision loss: I hmalam thlirna dik tak chu a tlahniam zauh zauh mai bakah i mit sir lehlama i hmuh pawh a tlahniam zauh zauh bawk.
• Mit hmuh lohna (complete loss of vision) (mitdelness): Hei hi natna stage na ber a ni.

Heng symptoms te hi a lo lang nghal lo. Zawi zawiin an lo thang lian a. Chuvangin a chang chuan, a tir lamah chuan, thil lian tak a ni lo tih i ngaihtuah mai thei.

Engvangin nge hetiang hi a lo awm? A chhan engte nge ni?

Kan sawi tawh ang khan `(CRD)` hi a tam zawk chu genetic disease a ni . Chu chu kan `(DNA)` -a thil thleng (mutations) thenkhat avanga lo awm a ni tihna a ni. Ngaihtuah teh, `(DNA)` hi kan taksa blueprint a ni. Chu blueprint-ah chuan tihsual tlemte a awm chuan hetiang dinhmun hi a siam thei a ni.

Research atanga a lan dan chuan he `(CRD)` thlen thei hi genetic mutation hrang hrang 28 tal a awm a ni. Heng mutations te hi kan rochun theih dan kawng hrang hrang a awm a:

• `(Autosomal dominant)`: Hetiang a nih chuan, a gene chhia chu nu leh pa pakhat chauh atanga rochun a nih pawhin natna hi a awm thei a, chu chu nu emaw pa emaw a ni.
• `(Autosomal recessive)`: Hetiang method ah hian natna hi a lo awm thin a, chu chu gene chhia chu nu leh pa pahnih atanga rochun a nih chauhvin a awm thin . Nu leh pa pakhat chauh atanga lo chhuak a nih chuan chu mi chu natna kengtu a ni thei a, mahse a lan chhuah dan erawh a lang lo vang.
• `(X-linked)`: Hei hi X chromosome nena inzawm gene vang a ni. Risk chu tu nu leh pain nge gene dik lo nei tih ah a innghat.

Cone-Rod Dystrophy thlen thei tur genetic mutation pali chu:

• `(ABCA4)` tih a ni
• `(CRX)` tih a ni
• `(GUCY2D)` tih a ni
• `(RPGR)` tih a ni

Hengte hi damdawi lamah chuan a buaithlak deuh a, mahse heng genes te hi kan mit chhunga cone cell leh rod te hnathawh thatna tura puitu an ni. Chuvangin heng genes te hi harsatna a awm chuan chu cell te hnathawh chu a tichhe thin.

Engtin nge he natna hi dik taka i hriat theih? (Diagnosis) tih a ni.

Nangmah emaw i fa emaw hian heng symptoms te hi i neih chuan eye care specialist i pan ngei ngei tur a ni . Hei hi CRD nge mit natna dang a ni tih chiang takin a hrilh thei che a ni.

Natna hriat theihna atan hian kawng hrang hrang a hmang a:

1. I damdawi lam chanchin leh a lan chhuah dan te zawt rawh: i mit hmuh dan inthlak danglamna leh i chhungte zingah hetiang harsatna hi tu emaw pawhin an nei tawh em tih te zawt rawh.

2. Mit enfiahna kimchang neih a ni: Hei hian test hrang hrang a huam thei.

• Mitdelna test: 1.1.Mite chu lehkha chhiar tir leh an hmuh theihna hmun en.
• Color vision test: Color i thliar hrang thei em tih enfiah.
• Slit lamp exam: Mit chhung lam enin, magnifying instrument bik hmanga en.

Heng test te hi a pawimawh laiin, Cone-Rod Dystrophy finfiahna atana test pawimawh leh chiang ber chu Electroretinography a ni. Hei hi test specialized deuh a ni. Retina-a electrical activity chu direct-in a teh a ni. CRD a awm chuan he test hian activity (or lack of activity) pattern bik a hriat theih a ni.

Chu bâkah, i mit doctor chuan genetic test neih a rawt thei bawk . Hei hi CRD thlentu nia hriat gene mutation i neih leh neih loh en nan a ni. Hei hi i chhungte hnai ber (nu, pa, unau, fa) tu emaw chuan CRD a vei a nih chuan, emaw, i fate hnena natna kai theihna hlauhawm i neih chuan a pawimawh hle.

Hei hi eng enkawlna nge ni? Dam theih a ni em?

Aw, dik tak chuan tun dinhmunah hian he natna `(Cone-Rod Dystrophy)` hi damdawi a la awm lo . Hei hi a lungchhiatthlak ber a ni.

Mahse, beiseina thlahthlam vek a ngai lo. Tuna kan tih dan chu natna zual zel tur tihkhawtlai a , symptom leh complication awm apiang enkawl a ni. Hei hi i mit doctor hian a pui thei ang. Hei hian a huam thei ang:

• Eng venna: Sunglass, tinted eyeglasses, contact lens hman hian êng avanga retinal cell tihchhiat theihna a ti tlem thei a ni.
• Vision correction: Natna a lo thlen tirh lamah chuan glasses hian mitdelna atanga hahdamna engemaw chen a pe thei a ni.
• Low vision aids: Hengte hi mitdelna nei te nitin hna an thawh theihna tura puitu hmanrua an ni. Magnifying glass awlsam tak atanga screen-reading computer program ang chi high-tech device thlengin an awm a ni.
• Visual rehabilitation: Hei hi training chi khat bik a ni a, mitdelte hmachhawn dan leh nitin hna thawh dan tur zirtirna a ni.
• Nutritional supplements: Vitamin leh mineral thenkhat (micronutrients) hian CRD natna a tikhawtlai thei tih rinna a awm a. Mahse, hengte hi damdawi lam thurawn hnuaiah chauh lak tur a ni . I mit lam doctor chuan eng nge tha tih leh eng nge tha lo tih a hrilh ang che.
• Rilru hriselna lama tanpuina:I mit hmuh loh hi thil buaithlak tak leh hlauhawm tak a ni thei . CRD vei tam tak chuan lungkhamna emaw, lungngaihna emaw ang chi symptoms an nei thei a. Chuvangin, rilru lam counseling leh puihna zawng hi heng rilru natnate hmachhawn leh hmachhawn kawngah hian tanpuitu lian tak a ni thei a ni.

Nakinah chuan enkawlna thar a awm dawn em? (Zirchianna)

Tunah hian zirchiangtute chuan Cone-Rod Dystrophy enkawlna atan gene therapies hman theih a nih leh nih loh an zirchiang mek a ni. Chu chu kan sawi tawh gene chhia siamthat theihna tur methods tihna a ni.

Mahse, heng enkawlnate hi zirchianna hmasa ber a la ni reng a ni . Chumi awmzia chu heng enkawlnate hi kan neih theih nan kum engemaw zat tal a la awm dawn tihna a ni. Tin, chu zirchiannate chuan heng enkawlnate hi a him a, a hlawk tih a nemnghet chauhvin tihchhuah an ni ang .

Chuvangin, tun dinhmunah chuan heng enkawlnate hi beiseina sang tak neih a harsat laiin, nakin lawkah hengte hian CRD vei te tan hahdamna engemaw chen a pe thei tih hriat reng a pawimawh

Cone-rod dystrophy (CRD) vei chuan eng nge a tawn?

CRD nghawng hi naupan lai atanga tan a ni tlangpui . CRD nei naupangte hian kum 10 an tlin hmain mit lamah harsatna an nei thei a, chuvangin a chang chuan sikul zirtirtuten naupang mit hmuh dan a danglam tih an hmu hmasa ber thin.

CRD vei tam zawk chuan kum 20 an tlin chuan dan anga mitdel an nih thlengin mitdelna an nei a, mahse, mi thenkhat tan chuan natna hi a zual zawi zawk a, a nih loh leh a chhiatna a na lo zawk a, he natna hi kum 30 emaw 40 emaw an nih thlengin a lo awm lo thei a ni

Hetiang dinhmun hi eng nge a thlir ang?

`(CRD)` hi nunna atana hlauhawm natna a ni lo . Chu chu a that lo tihna a ni. Mahse, nun tibuaitu nasa tak leh a tawpah chuan rualbanlohna thlentu natna a ni .

But you can learn to live with vision loss , a bik takin doctor, support services, leh resources dangte puihnain.

A pawimawh ber chu nangmah chauh i ni lo tih hriatthiam hi a ni. Ṭanpuina dil hlau suh.

Hei hi ven dan tur a awm em?

Kan sawi tawh ang khan `(Cone-Rod Dystrophy)` hi natna a ni a, a tam zawk chu genetic mutations vang a ni . Chuvangin, tunlai thu hriat dan atanga thlir chuan he `(CRD)` natna hi ven theih a ni lo va, a vei theihna tur pawh tihziaawm theih a ni lo . Researcher-te chuan a chhan dang emaw, a nghawngtu thil dang emaw a awm em tih an la enfiah mek a ni.

CRD ka neih chuan engtin nge ka in enkawl ang?

`(CRD)` i neih chuan mit endikna atan mit specialist pan fo a pawimawh hle.Tichuan, i mit a inthlâk danglamna chu a enfiah thei a, chutiang chuan i enkawlna chu a siamrem thei a, thu thar a pe thei bawk che a ni.

I mit doctor leh healthcare provider dangte chuan CRD natna vei turin an pui thei che a ni. Chumi nêna insiamrem tûr leh nakin hun atâna inbuatsaih tûrin an ṭanpui thei che a ni. Enkawlna thar chungchang pawh an hriattir thei che a, thu hriat tur pawh an pe thei bawk.

Doctor/madam hnenah eng nge ka zawh ang?

Doctor i hmuh hunah heng zawhnate hi i zawh chuan a \angkai hle ang:

• Eng chen nge ka mit a tlahniam?
• He `(CRD)` natna hi engtin nge a kal zel ang? Eng chen nge a daih dawn tih i ngaihtuah thei em?
• Kei leh ka chhungte hian eng DNA mutation nge hetiang thil hi a thlen tih chiang taka hriat tumin genetic testing kan nei tur em ni?
• Tunah hian natna zual zel tur titawp turin eng nge ka tih theih ang?
• Tuna inthlâk danglamnate nena inmil tûr leh nakin lawka inthlâk danglamna tûra inbuatsaih tûra ka hman theih tûr program emaw, resource emaw a awm em?

Cone-Rod Dystrophy avanga i mit i hloh chuan khawvel leh midang lakah pawh inhlat leh mahni chauha awm i ni thei . Nakin lawka thil danglam tur chungchangah lungkhamna leh lungkhamna neih hi thil pangngai a ni .

Mahse, hei hi nangmah chauhva hmachhawn tur dinhmun a ni lo . I mit doctor, doctor dangte leh specialist-te chuan i mamawh enkawlna, puihna, kaihhruaina leh hmanrua an pe ang che. An hnenah tanpuina dil hlau suh. Mit hmuh lohnain nghawng a neihte chu i insiamrem theih nan leh i hmachhawn theih nan an pui ang che.

A tawp berah chuan take-home message:

Cone-Rod Dystrophy (CRD) hi nunna atana hlauhawm tak mit natna a ni a, kan mit chhunga cell cone leh rod an tih te chu a chhe vek a, zawi zawiin mit a tichhe thei a ni. Genetic a ni fo a, naupan lai atang pawhin a intan thei bawk.

Tunah hian damdawi awm lo mah se, natna lan chhuah dan tur enkawl dan tur, natna zual zel tur tihkhawtlai dan tur leh mitdelna nena nunpui theihna tur kawng tam tak a awm a ni.

Nangmah emaw i hriat mi emaw chuan heng natna hi i neih chuan mit lam doctor pan nghal rawh . Diagnosis dik tak leh kaihhruaina neih a pawimawh hle.

Nangmah chauh i ni lo tih hre reng ang che. I mamawh tanpuina leh tanpuina dawng rawh. Positive taka awm reng pawh a pawimawh hle!

` cone-rod dystrophy, CRD, mitdelna, mit (retina), cone cells, rod cells, genetic diseases, mit natna te