I fate mit hmuh danah i lungngai em? Leber-a Congenital Amaurosis (LCA) chungchang hi i zir dawn teh ang?

I naute tê mitmeng i en hian a chang chuan thil a hmu dik em tih emaw, a mit hmuh danah thil dik lo a awm em tih emaw i ngaihtuah fo mai thei. A bik takin naute thenkhat chu mitdelna engemaw zat neia piang an nih avangin. He natna hmuh tur awm lo mahse pawimawh tak hi Leber congenital amaurosis an ti a. Chipchiar takin sawi ila, kan sawi dawn em ni?

Leiber Congenital Amaurosis (LCA) hi eng nge ni?

A awlsam zawngin sawi ila, Leber congenital amaurosis, a tawi zawngin LCA hi a awm lo hle. Nausen mit chhungril lam (retina) a nghawng a ni. Retina hi camera-a film angin han ngaihtuah teh. Kan thil hmuhte hi hetah hian thlalak angin kan record a ni. Retina-ah hian cell bik tak tak a awm a, chu chu photoreceptors kan ti a ni. Cell chi hnih a awm a, rod leh cone . Rod hian zan leh thimah hmuh theihna min pui thin. Cone hian nitin rawng kan hmu a, chiang takin min hmu thei bawk.

Naute `(LCA)` vei chunga thil thleng chu `(rods)` leh `(cones)` cell te hian hna an thawk tha lo a ni. Chu chu heng cell-te hian mit chhunga êng lut chu electrical signal angin thluak lamah uluk takin an thawn thei lo tihna a ni. He electrical activity a tlahniam chuan naute mit hmuhna pawh a tlahniam bawk. A châng chuan electrical activity a awm lo tak tak a nih chuan naute hian a hmu thei lo thei lo.

Hei hi pianpui (congenital condition) a ni a, chu chu naute piang chhuak an ni tihna a ni. Doctor-te chuan naute mit hmuhna hi thla 6 vel a nih veleh a tlahniam zauh zauh tan thin niin an sawi . Chuvangin, i naute mitah danglamna eng emaw i hmuh chuan, emaw, thil an hmu thei lo nia i hriat chuan, a rang thei ang bera mit lam doctor pan a tha ber.

Hetiang (LCA) natna hi engtiang chiahin nge a awm?

Tunah chuan he natna hi engtiang chiahin nge a awm tih i ngaihtuah mai thei. A nihna takah chuan a tlem hle . Naute 100,000 zingah pahnih chauh a awm nia sawi a ni. Chu chu number hniam tak a ni. Mahse, a tlem hle chung pawhin naupang tê tête mitdelna thlentu lian ber pakhat a nih thu hriat a ni. Chuvangin, a tlem hle nachungin, hei hi hriat a pawimawh hle.

Naute (LCA) vei te hian eng symptoms nge a neih?

Nausen te tak te hian mit lama harsatna a nei tih hriat hi nu leh pate tan a harsa thei hle. A chhan chu an inbiak loh vang a ni. Mahse, naupang `(LCA)` vei chuan mit a chhe hle a, a chang chuan mit a nei lo. He natna hian naute kum khat hnuai lam a nghawng avangin, a hriat theihna tur chhinchhiahna thenkhat a awm.

I hriat hmasak ber pakhat chu i naute hian an mit a khawih reng a, thil engemaw tibuaitu ang maiin a mit a hrual reng a ni . Photophobia (êng huatna) an nei thei bawk . Chumi awmzia chu êng an hmuh emaw, hmun eng takah an kal emaw chuan an mit an chhing emaw, an tap emaw thei tihna a ni. Thil dang pakhat chu i naute ta a ni tih i hre mai theiMit chu hmun khatah (nystagmus) a en reng thei lo ang maiin rang takin a kal leh a. An khur ang mai a ni.

Heng features te hi i hmu thei bawk ang:

• Keratoconus hi mitmeng (cornea) chu a pianzia a inthlak a, cone ang maia siam a ni. Hei hi a buaithlak deuh a, doctor chauhvin chiang takin a hrilh thei che a ni.
• Hmun hla tak atanga thlir theihna (hyperopia).
• Mit mitmeng (pupil) hian êng a chhan dan hi a te lutuk emaw, a tlem lutuk emaw a ni. I hmu em, a tlangpuiin hmun eng atanga hmun thim takah i kal chuan mit mitmeng chu a lian chho zel a ni. Chutiang chuan a thawk lo.

Hetiang thil i hmuh chuan hlauthawng suh la, doctor pan rawh. Eng thil nge thleng tih chiang takin an hrilh ang che.

Engvangin nge hetiang (LCA) dinhmun hi a lo awm?

Tunah chuan he `(LCA)` hi engvangin nge a lo awm tih hi han en ila. Hei hi a chhan ber chu genetic changes a ni a, chu chu `(genetic mutations)` a ni . Kan mizia zawng zawng hi kan nu leh pa hnen atanga kan dawn genes (`genes`) atang hian a innghat tih i hria. Heng genes te hi kan `DNA` a peng te te an ni. Chuvangin, naute a lo pian hian nu egg (`egg`) leh a pa sperm (`sperm`)-a genes-a inthlak danglamna emaw, chhiatna emaw a awm chuan naute hnenah pawh a kai thei bawk.

Hetiang dinhmun thlen thei gene mutation hrang hrang 30 vel hmuhchhuah a ni tawh a, `(LCA). A bik takin, retina lo thanglian leh thanlenna tura puitu genes-a mutations te hi a nghawng nasa hle. Tlemte tarlan tur chuan an zingah hian `(CEP290)`, `(CRB1)`, `(GUCY2D)`, `(RPE65)` ang chi gene te pawh an tel.

A tam zawkah chuan `(LCA)` hi `autosomal recessive` condition a ni. Chu chu eng nge a nih i hria em? Chumi awmzia chu naute hian he natna hi a vei dawn tihna a ni a, nu leh pa pahnihin gene chhia (`altered gene`) an keng tel chauh a ni. An pahnih hian carrier an ni tur a ni. Mahse, an pahnih hian symptom an neih a ngai lo. An hrisel thei a, mahse an taksaah gene chhia chu an nei thei a ni. Chutiang a nih chuan an fa piang chuan he natna hi a vei theihna chance 25% vel a awm a ni.

Ngaihtuah teh, nu leh pa pahnih hi he gene chhia hi kengtu an nih chuan, an naupai apiangah naupangin LCA a vei theihna chance 1/4 a nei a, naupang chu carrier a nih theihna chance 1/2 a nei a, nausen chu nghawng nei lovin a pian theihna chance 1/4 a nei bawk.

Mi tam tak chuan autosomal recessive trait an keng tih an hre lo a, a chhan chu symptoms an neih loh vang a ni. Chhungkaw member pakhat, genetic condition nei i neih chuan, emaw, i fate hian genetic condition an nei thei tih i ngaihtuah a nih chuan, i doctor nen genetic counseling chungchang sawipui a pawimawh

Engtin nge doctor-te hian he (LCA) natna hi an hriat chhuah?

I naute hian `(LCA)` a nei em tih chiang taka hriat tur chuan mit lam doctor pan a ngai a ni. Naute mit chu uluk takin a enfiah hmasa ang a, mit chhunga `retina` pawh a enfiah ang. Tichuan, `electroretinography (ERG)` tih a niHe test hian naute mit (retina)-a electrical activity a teh a ni. He electrical activity hi mit hmuhna atana a pawimawhzia kan sawi tawh kha hre reng ang che. A chang chuan `optical coherence tomography (OCT)` tih scan pawh tih theih a ni. Hei hian mit chhunga layer awmte chu chiang takin a la thei a ni.

Doctor chuan naute mit tichhe thei tur thil dang a awm loh nan a enkawl bawk ang. Hei hi `differential diagnosis` kan ti a ni. A chhan chu mit hmuhna tichhe thei thil dang a awm avangin. Entir nan:

• `Retinitis pigmentosa` (hei hi mit lam natna veitu a ni bawk) .
• `Joubert syndrome` tih a ni
• `Zellelweger syndrome` tih a ni
• A rawng mitdelna (`achromatopsia`) .
• Mitmeng tla (ptosis) .

Heng zawng zawng hi a en hnuah chauh doctor chuan `(LCA)` a ni tih dik takin a sawi chhuak thei a ni.

(LCA) enkawlna tur engte nge ni?

Dik tak chuan tun dinhmunah hian `(LCA)` natna hi damdawi a la awm lo . Mahse, lungngai suh. Doctor-te chuan naute mit hmuhna ṭhenkhat siamṭhat an tum a, a ṭha thei ang bera nung turin an pui bawk. Hei hi glasses hmanga tih thin a ni tlangpui . Tin, mitdelte tanpui thei tur `magnifying glasses` emaw `reading prisms` ang chi hmanrua a awm bawk.

Gene therapy chungchang pawh i zir ang u.

Hei hi a thar deuh a ni. Kum 2017 khan US Food and Drug Administration (FDA) chuan he natna enkawlna atana gene therapy hmasa ber (LCA) chu a pawm a ni. Hei hi a beisei awm tak zet a ni. Mahse, tunah hian he enkawlna hi RPE65 tih gene-a mutation avanga lo awm (LCA) tan chauh phalsak a ni.

A awlsam zawngin sawi ila, gene therapy chu natna thlentu gene pakhat chu gene hrisel tak hmanga thlak a ni. A nih loh leh, natna thlentu gene inactivating. Beiseina chu cell-ah gene hrisel tak luhtir a, natna tihdanglam a ni. Hei hi research-based treatment la ni mahse, nakin lawkah `(LCA)` ang dinhmun tan chuan solution tha tak a ni thei ang.

Mit lam doctor chuan he gene therapy hi i naute tan a tha em tih a hrilh ang che.

LCA hi ven theih a ni em?

Dik tak chuan nausen hian `(LCA)` thlentu genetic mutation a rochun a nih chuan ven dan tur a awm lo. Kan thunun theih thil a ni lo. Mahse, a hmaa ka sawi tawh ang khan genetic disease chungchangah rinhlelhna emaw hlauhna emaw i neih chuan nau neih hma emaw, naupai lai emaw hian genetic counselling lak a tha ber. Tichuan, a hlauhawmna chu chiang takin i hre thei ang.

Ka naute hian (LCA) a neih chuan eng nge ka beisei theih ang?

I naute hian `(LCA)` a nei tih i hriat chuan lungngaihna leh hlauhna nasa tak i neih hi thil pangngai a ni. `(LCA)` vei naute tam tak chuan an mit a hloh vek thei a, nasa takin a tlahniam thei bawk. Chu chu a dik a ni.

Mahse, chu chuan i fa chu hlim leh hrisel takin a nung dawn lo tihna erawh a ni lo. I naute chu a mit enfiahna neih fo a ngai ang a, chu chu a mit a inthlak danglam leh awm loh enfiah emaw, a mit a chhe zual em tih emaw enfiah a ngai ang. I doctor chuan heng exam te hi eng chen nge i neih tur tih a hrilh ang che.

A pawimawh ber chu i fate mamawh puihna leh hmangaihna pek hi a ni. Vision hniam tak neia nung tura zirtir leh fuih kawngah hian chanvo lian tak i nei a ni. Tin, chutiang naupangte tanpui thei institution leh school te pawh en bawk ang che. An hmalam hun hlawhtling tura tanpuitu ropui tak a ni ang.

Engtikah nge Doctor ka hmuh ang?

Ka hriat nawn tir leh ang che: I naute mitah thil danglam tak i hmuh chuan, a nih loh leh a hmu thei lo ang maia i inhriat chuan mit lam doctor pan nghal vat rawh.

I naute hian (LCA) a nei tih i hriat tawh chuan, a mit hmuh dan a danglam emaw, a natna lan chhuahna a zual emaw i hmuh chuan doctor pan nghal rawh.

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor hmu tura kan kal hian a chang chuan kan zawh duh chu kan theihnghilh thin. Chuvângin, i ṭanpui thei tûr zawhna ṭhenkhat chu hetiang hi a ni:

• Ka naute hian `Leber-a pianpui amaurosis (LCA)` a nei tak tak em?
• Eng genetic mutation nge hetiang hi a thlen? (A hriat theih chuan)
• Ka naute tan hian eng test dang nge ka mamawh?
• Engtiang chiahin nge a mit a hloh ang?
• Ka naute hi gene therapy atan a tha em?

Hetiang thil hriat leh hriat hi i tan a pawimawh hle ang.

LCA leh Autism Spectrum Disorder te hi inzawmna a awm em?

Hei hi nu leh pa thenkhat tan pawh harsatna a ni. `(LCA)` leh ``Autism Spectrum Disorder (ASD)` te hi naupang hmasawnna tichhe thei thil pahnih a ni. `(LCA)` hian mit retina a nghawng a, `(ASD)` hi ``neurodevelopmental disorder`` a ni.

Zirna thenkhatah chuan naupang LCA leh ASD te hi inzawmna a awm tih hmuhchhuah a ni. Mahse, hei hian LCA nei naupang zawng zawngin ASD an nei vek dawn tihna erawh a ni lo. Hemi chungchang hi i hriat belh duh chuan i doctor nen inbiak a tha ber.

Hriat reng tur pawimawh ber berte (Take-Home Message) .

Okay, chuvangin kan sawi tawh thil pawimawh tak tak thenkhat chu i hriat reng theih nan ka hrilh ang che.

Leber-a congenital amaurosis (LCA) hi genetic condition hmuh tur awm lo tak a ni a, naute mit hmuhna a hloh thei a, a chhan chu an retina-a cell-te hian hna an thawk tha lo a ni.

I naute chu (LCA) a vei tih hmuhchhuah a nih chuan a mit a hloh mai thei. Mahse chu chuan nun hlim tak, hrisel tak a hmang thei lo tihna erawh a ni lo.

Hei hi genetic changes vang a ni. Hemi chungchangah hian ngaihtuahna emaw rinhlelhna emaw i neih chuan genetic counseling lak a pawimawh hle.

A pawimawh ber chu i naute mit a danglamna i hriat veleh mit lam doctor pan mai tur a ni.Tichuan, a tul anga enkawlna leh puihna i hmu thuai thei ang. I doctor chuan engkim a hrilhfiah ang che, i naute hian mit enfiah a mamawh zat leh an mit venhimna atana i tih theihte pawh a hrilhfiah ang che.

Nangmah chauh i ni lo tih hre reng ang che. He zinkawng zawh tura pui turin doctor, counselor leh support group te an awm a.

` Leiber congenital amaurosis, LCA, nausen mitdelna, mit (retina), genetic mutations, mitdelna, mit natna te