Khawvel hi dum leh var pawh i hmu em? Achromatopsia chungchang hi han sawi ila

Khawvel hi rawng nei lo, dum, var, leh grey-a inthuam chu eng ang nge ni ang tih i ngaihtuah ngai em? Mi thenkhat tan chuan hei hi thil tawn tak tak a ni. Vawiin hian chutiang mit lama harsatna awm lo mahse pawimawh tak pakhat chu kan sawi dawn a ni. Hei hi achromatopsia an ti a. Lungngai suh, hei hi awlsam takin i hrethiam ang u.

Achromatopsia chu eng nge ni?

A awlsam zawngin sawi ila, achromatopsia hi pianpui, genetic eye condition a ni. Hemi kawngah hian a pawimawh ber chu rawng hriat theihna a tlem hle. A tam zawkah chuan he natna hi hun kal zelah a na zual lo va, chu chu a natna lanchhuahna a zual lo tihna a ni. Kawng khatah chuan chu chu thlamuanna a ni a ni lawm ni? Ngaihtuah teh, pangpar rawng mawi tak tak te, van dum, kan hmuh zawng zawnga ruahpui rawng pasarih te hi, heng mite hian an hmu dan inang lo. Chu chuan engtin nge an nî tin nun a nghawng theih?

Hei hi chi hrang hrang a awm em?

Ni e, achromatopsia hi chi hnih lian tak a awm a:

• Complete Achromatopsia: Hetah hian mit hmuhna chu dum, var leh dum-ah a innghat vek a ni. Khawvel hi film hlui black-and-white ang maiin an hmu a.
• Achromatopsia tling lo: Hetah hian rawng hrang hrang chu eng emaw chen hmuh theih ni mahse, a faint hle a, a hmel pawh a faded hle. Thlalak hring deuh ang maiin. Tin, rawng hrang hrang thliar hran a har bawk.

Achromatopsia leh Color Blindness hi eng nge an danglamna?

Mi thenkhat chuan heng pahnih hi a inang vek niin an ngai mai thei. Mahse a nihna takah chuan an pahnih inkarah hian danglamna lian tak a awm. Color blindness nei hian mit a ti tha tlangpui a, chu chu thil chiang takin a hmu thei tihna a ni. Anni hian rawng thenkhat, a bik takin sen leh sen, thliar hran harsa an nei chauh a ni. Eng emaw chen chu rawng an hmu thei. Mahse achromatopsia -ah chuan thil awmdan chu a buaithlak deuh hlek a ni. Tin, rawng an hmu lo emaw, an hmu tha em em mai bakah hian an mit a chak lo bawk. Chumi awmzia chu thil chu a hlimthla angin a lang thei tihna a ni. Tin, mit lama harsatna dang an nei bawk a, chu chu mit chet chak (nystagmus) te hi a ni. Hei hian an nitin hna thawh kawngah harsatna nasa tak a siam thei a ni.

A awlsam zawngin, color blindness hi color filter-a harsatna ang a nih chuan achromatopsia hi camera pumpui harsatna tenau tam tak ang a ni.

Engtiang chiahin nge he natna hi ka neih theih ang?

Achromatopsia hi heredity atanga lo chhuak a ni a, chu chu genes atanga lo chhuak a ni.I chhungkuaa mi tu emaw, i nu lam emaw, i pa lam emaw pawhin he natna hi a neih chuan nang pawhin i vei theihna chance i nei a ni. A bik takin, i chhungkaw lam leh lam (i nu leh pa lam pawhin) hian he genetic influence hi an neih chuan naupangin he natna a neih theihna chance hi mi pali zinga pakhat (1/4) vel a ni. Hei hian naupang tin hian an nei vek dawn tihna a ni lo va, mahse a hlauhawmna a awm.

Achromatopsia hi engte nge ni?

Kan sawi tawh ang khan hei hi genetic defect avanga lo awm a ni . Kan mit hnung lamah chuan êng hriatna hmun pakhat a awm a, chu chu retina . Camera chhunga film awm ang mai a ni. He retina hian êng leh rawng hriat theihna cell chi hrang hrang a nei a. Chungte chu photoreceptor an ti a . Heng cell te hian thluak ah information an thawn a, "Hetah hian hetiang thil hi a awm," an ti a. Photoreceptor cell hi chi hnih a awm a, chungte chu:

• Cones: Heng cell te hi rawng hriat theihna tura min puitu te an ni . Tin, êng êng takah (nitin ang deuhin) chiang taka kan hmuh theihna tura min puitu cell an ni bawk. Kan mithmuhah chuan "color expert" angin han ngaihtuah teh.
• Rod cells: Hengte hian light tlem, i.e. thimah thil chiang taka hmuh theihna turin min pui thin. Rangkachak hriat thiam an thiam vak lo. Zan vengtu ang mai an ni.

Achromatopsia vei chunga thil thleng chu cone cells te hian hna an thawk tha lo a ni.

• Achromatopsia kimchang nei mi chuan a mit hmuhna chu rods hnathawh danah a innghat vek a ni. Chuvang chuan rawng an hmu thei lo.
• Achromatopsia kim lo nei miah chuan cone cell te hian rod cell te nen hian eng emaw chen chu hna an thawk bawk. Chuvang chuan rawng te chu tlem a faded deuh an hmu thin.

Tunah hian he natna tichhe thei gene hriat chhuah paruk a awm tawh a ni. Heng genes-a mutations hian cone cells hnathawh a nghawng a ni.

Achromatopsia natna lan chhuah dan chu engte nge ni?

Hetiang natna vei hian symptom hrang hrang a nei thei a. Mi zawng zawngin an nei vek dawn lo va, mahse hengte hi a tam ber chu an ni:

• Scotomas : Mit hmuhna hmun thenkhata hmun dum ang mai.
• Blurred vision, astigmatism nei pawh a ni thei : Thil a chiang lo.
• Color blindness: Rangkachak hriat theih lohna emaw, hriat theihna tlem emaw.
• Hmun hla tak atanga thlir theihna.
• Photophobia: Ni êng leh êng êng tak tak ang chi thil en chu an harsat hle .
• Myopia/Hmuh theihna hnai tak.
• Mitdel emaw, mitdel emaw.
• Mit chet chak tak, thunun loh (Nystagmus): Hei hian an mit a nghawng bawk.

Naupang tê tête zingah engtikah nge symptoms a lan?

A tlangpuiin photophobia hi a dam chhung thla engemaw zat chhungin hmuh tur a awm thin. Chumi awmzia chu naute chu êng êng tak a hmuh chuan a mit a chhing ang a, a tap ang a, a hmui a ti hrual ang tihna a ni. Hetih lai hian mitdelna leh rawng mitdelna ang chi symptoms te pawh a awm thei bawk. Amaherawhchu, a châng chuan nu leh pate chuan chûng thilte chu an fa chu tlem a lo puitlin hunah chauh an hre ṭhîn a, kum engemaw zât hnuah pawh a ni mai thei. Hei hi a chhan chu naute hian an naupan laiin rawng an hmu thei lo tih a hrilh thei lo mai thei.

Engtin nge Achromatopsia hi hmuhchhuah a nih?

He natna hi mit lam doctor in a hmuchhuak thin a ni . Nang emaw i fa emaw doctor i hmuh hunah an tih hmasak ber tur chu i chhungkaw medical history (mi dangin he natna hi an nei tawh em) leh i symptoms te an zawt hmasa ang. Mit enfiah lai hian retina chu a pangngai angin a lang thei. Chuvangin, a natna hriat chian nan test dang pawh tih belh theih a ni. Chung zinga ṭhenkhat chu:

• Color vision testing: Color hrang hrang i thliar hrang theihna a teh thin.
• Fundus autofluorescence: Mit chhunga retinal tissue enfiah nan blue light hman a ni.
• Ophthalmic electrophysiology tests: I mit leh a nena inzawm nerve- te’n êng an dawn dan tehfung siam rawh.
• Chumi zinga ṭhenkhat chu electroretinography (ERG) . Hei hian cone cell leh rod te êng laka electrical response a teh a ni. Hei hian cone cell te hnathawh dan dik tak kan hre thei a ni.
• Optical coherence tomography (OCT): Hei hian retina cross-sectional image a la a, scan ang chiah a ni .
• Visual field testing: Hei hian mitdel i neih leh neih loh a enfiah thei a, a awm a nih chuan engzat nge a lian tih a enfiah thei bawk.

Heng test te hi a buaithlak deuh a nih chuan lungngai suh. Doctor-te chuan heng test-te hi i dinhmun dik tak finfiah nan leh i mamawh thurawn tha ber ber pe turin an ti thin.

Achromatopsia hi enkawlna tur a awm em?

Lungchhiatthlak takin tunah hian achromatopsia natna hi damdawi kimchang a la awm lo.Chumi awmzia chu hei hi tihbo theihna tur damdawi leh surgery engmah hmuhchhuah a la ni lo tihna a ni.

Mahse, chutiang dinhmun nei chu nun tha tak a hmang thei lo tihna erawh a ni lo. Ni miah lo!

Hetiang dinhmun hi nei mah se, an vision chu a taka hmang tangkaiin, an symptoms te chu social support nen an enkawl thei a, mahni inrintawkna neiin nun an hmang thei a ni. A pawimawh ber chu an dinhmun hrethiam a, chumi ang zela an nun siamrem hi a ni. Enkawlna hian natna lanchhuahna control-na atana puitu leh nun awlsam zawka siamtu thilte a ngaihtuah ber a ni.

Glass bik a awm bawk

Vawi tam tak , dark-tinted lens hi enkawlna atan an pe thin. Heng lens te hian light wave tha lo tak tak te chu an filter chhuak thin. Hei hian photophobia tihziaawmna kawngah a pui thei a ni. Glass thenkhatah chuan frame a awm a, chu chu beng sir thlengin a inzar a, chu chuan coverage a pe thei ber a ni. Ṭhenkhat chuan a chungah shield an nei thei bawk. Hengte hi sunglass nen a inang hle a, mahse specialized zawk an ni.

Mitdelna (low vision therapy) hmanga enkawlna

Hei pawh hi a pawimawh em em a ni. He training hian nitin hna him tak leh awlsam taka thawh dan tur a zirtir a ni. Entir nan:

• Electronic magnification device hmanga lehkhabu leh document awlsam zawka chhiar dan .
• Hmun hriat loha zin chhuah hunah tiang dum sei tak hmanga him taka zin dan.
• A chhehvel boruak uluk taka enfiah dan leh tlak hlauhawmna hriat theih dan.
• Lirthei i khalh thei lo a nih chuan vantlang lirthei hman thiam dan.
• High-contrast material hman dan tur. Entirnan, an tan chuan lehkha dum chunga ink dum ang chi thil hmuh a awlsam zawk.

Hetiang training hmang hian an nun chu mahni inrintawkna nei zawkin an hmang thei a ni.

Achromatopsia hi ven theih a ni em?

Genetic condition a nih avangin a lo awm zel tur venna tur engmah kan ti thei tak tak lo. Chumi awmzia chu kan ei leh in emaw, kan thil tih emaw hmangin a lo thanglian zel tur chu kan titawp thei lo tihna a ni. Mahse, chu natna chu i chhungkaw lam leh lam a kal a nih chuan, chu chu i fate hnena gene pek theihna chance i nei thei nia i ngaih tihna a nih chuan, genetic testing neih i ngaihtuah mai thei Chu test result chuan i fate’n he natna hi an rochun theih dan tur a hrilh ang che. Chhungkaw ruahmanna siam hunah hei hi a pawimawh thei hle.

Achromatopsia vei te tan engtin nge an hmalam hun?

Hei hian lungngaihna a thlen thei che a, mahse achromatopsia vei tan chuan prognosis hi a takah chuan a tha hle.

• Naupang: Heng naupangte hian sikul pangngaiah an kal thei tlangpui.Achromatopsia hi zir tur a ni lo. Mahse, an mit hmuhna lama harsatna (e.g., lehkhabu-a thuziak lian zawk siam, êng tihthianghlim) hneh turin tanpuina engemaw zat an mamawh mai thei. Zirtirtu leh nu leh pate’n an hriat chian chuan naupangin zirna tha a dawn theihna tur daltu a awm lo.
• Puitling: Puitling achromatopsia vei te hi mahni inrintawkna neiin an khawsa fo thin. An chhehvêl leh ni tin thiltih nêna insiamrem tûrin ṭanpuina chhunzawm zel engemaw zat an mamawh mai thei. Mahse, hna an chelh thei a, khawtlang nunah an thawk thei a ni.

A pawimawh ber chu an mamawh tanpuina, hriatthiamna leh facility pek hi a ni.

Achromatopsia natna vei huna hriat tur pawimawh

Hetiang natna vei mi pakhatin a himna, a thlamuanna leh a zalenna a tipung thei tur thil tih leh hmanraw engemaw zat a awm.

In chhung boruak buatsaih dan:

• Furniture inrem dan: In chhunga furniture te chu hmun tam thei ang ber awm thei tur leh in inher chhuah hunah a inhnaih loh nan dahkhawm tur a ni.
• Curtain thuk: I in tukverh-ah puan thuk tak dah la. Hei hian in chhunga natural light lo lut chu control turin a pui ang. Eng êng tak nen chuan an nuam lo hle.
• Glare tihtlem: Bang ang chi hmunah `Matte paint` chi khat hnawih thin ang che. Hei hian êngin mit a rawn tlak chuan mit a rawn lang thin glare chu a ti tlem ang.
• Thil inruahman dan: Thil pawimawh tak tak hmuh a awlsam theih nan in in chu buatsaih rawh. Letter lian tak tak, chiang takin label i dah thei mai thei.

Nitin hnathawh tur:

• Eng êng tak pumpelh: Chhun lamah chhuah loh tum ang che, a bik takin ni a êng lai chuan. I chhuah chuan sunglass leh lukhum ha rawh.
• Screen reader: Computer leh phone ang chi electronic hmanrua screen en hian eng eng mawi tak avang hian a harsa thei hle. Chutiang hunah chuan ``Screen reader`` ang chi technological devices i hmang thei bawk. Chungte chuan screen chhunga thu awmte chu an chhiar thin.
• Visual assistive technology: Entirnan, handheld `Scanner` a awm a, chu chuan thil pakhat rawng a hrilh thei che a ni. Hetiang device hi an tan a tangkai hle.
• Kawrfual bun: Pawn chhuah dawnin, a bik takin ni chhuahna hmunah chuan kawrfual (brimmed hat) vuah tur a ni. Hei hian i mit a rawn deng nghal zat chu a ti tlem ang.

A tawp berah chuan eng nge hriat tur

Achromatopsia hi pianpui natna hmuh tur awm lo tak a ni a, rawng hrang hrang hriat theihna leh mit hmuhna quality a nghawng a ni. Symptoms hi a chang chuan na tak a ni thei a, nitin nun a tibuai thei bawk.

Mahse, hre reng ang che, hriatthiamna dik tak, glasses bik, low vision training , leh hmangaih tak takte puihna a awm chuan, he natna vei pawh hian mahni inrintawkna nei, awmze nei takin nun a hmang thei ngei ang.

Nangmah emaw i hriat miin emaw heng symptoms te hi i neih chuan mit doctor pan nghal a tha ber. Hlauh leh mualpho a ngai lo. I hriat hma poh leh tanpuina i dawng thuai thei ang. Achromatopsia, rawng hmuh theih lohna, mitdelna, genetic diseases, retina, cone cells, rod cells