I naupang tê mitmengah hian danglamna a awm em? ‘Optic Nerve Hypoplasia’ leh ‘Septo-Optic Dysplasia’ chungchang hi i zir dawn teh ang!

When you look at your baby , a mit chuan a en dik lo che ang maiin, hetah leh khawiah emaw tlan mai mai ang maiin, hmun khatah an awm thei lo ang maiin i inhria ngai em? A chang chuan infiamna tenau tak chu a en tha lo va, a fiddle mai mai niin i hria em? Nu emaw pa emaw hian hetiang thil an hmuh hian hlauhna leh lungkhamna nasa tak an neih hi thil pangngai tak a ni. Vawiin hian heng symptoms te hi thlen thei leh pian tirh atanga awm thin condition kan sawi dawn a ni . Hei hi ‘Optic Nerve Hypoplasia’ an ti a.

‘Optic Nerve Hypoplasia’ tih hi eng nge ni?

A awlsam zawngin Optic Nerve Hypoplasia hi pianpui natna a ni. Heta thil thleng hi kan mit leh thluak inkara thuchah kengtu optic nerve hi a lo thang tha lo emaw, a te emaw a ni. Camera pahnih ang maiin han ngaihtuah teh. Camera-in a hmuh chu optic nerve kaltlangin thluaka image angin a thawn chhuak thin. Chuvangin he nerve hi a lo thang tha lo a nih chuan mitin a hmuh chu thluak lamah chiang takin a kal lo. Hei hian mit lama harsatna hrang hrang a thlen thei a, chu chu mit lama vakvai ang chi te hi a ni .

Hetiang dinhmun hian mit nerve chauh a nghawng lo. A châng chuan naupang thluak peng dang, a bik takin:

• Midline brain abnormalities: Hemisphere pahnih inthenna thluak hmun thenkhat, septum pellucidum leh corpus callosum te hi a lo thang tha lo thei. A châng chuan, hengte hi a lo ṭhang lian lo thei a ni. Hengte hi thluak peng hrang hrang inbiakpawhna atan a pawimawh hle.

• Pituitary Gland Hypoplasia: Pituitary Gland chungchang hi i hre tawh mai thei. Thluak bul, Hypothalamus hnuaiah a awm a ni. He gland te tak te hian kan taksaa hna pawimawh tam tak a thunun a, a bik takin hormone siamchhuahna . Chuvangin he gland hi a lo thang tha lo a nih chuan taksa mamawh hormone a siam chhuak lo mai thei a, a siam chhuah tlem hle bawk.

A chang chuan he natna hi `(Optic Nerve Hypoplasia)` emaw `(Septo-Optic Dysplasia - SOD)` emaw `(de Morsier Syndrome)` emaw an ti bawk. Hei hi a chhan chu, zirchianna atanga a lan dan chuan `(SOD)` vei zawng zawng deuhthaw hian mit nerve hmasawnna a nghawng vek a ni. Mahse, `(ONH)` vei zinga za zela tlemte chauh (i.e. 5% leh 10% inkar) hian thluak lairil lam (entir nan, `(Septum Pellucidum)`) hmasawnna a nghawng a ni.

Hetiang dinhmun hi engtiang chiahin nge a awm?

United States ang ramte chhut dan chuan naupang 10,000 zinga pakhatHe natna `(Optic Nerve Hypoplasia)` hian mi 100,000 vel a nghawng thei niin an sawi. Tin, he natna hi naupang kum 3 hnuai lam mit hmuh lohna thlentu ber nia hriat a ni bawk. Sri Lanka-ah pawh hetiang naupang hi an awm ve tho.

Optic Nerve Hypoplasia hi natna khirh tak a ni em?

Ni e, hei hi natna khirh tak a ni a, a châng chuan a na hle thei bawk. Mahse a nghawng chu mi hrang hrangah a inang lo. Naupang thenkhat chuan mit lama harsatna lian tak an nei thei bawk. Tin, pituitary gland a nghawng chuan taksa hormone siamchhuahna a tibuai thei bawk. Hormone kaihhnawih harsatna thenkhat chu nunna atana hlauhawm pawh a ni thei. Chuvangin, i fa hian heng symptoms te hi a nei nia i hriat chuan, emaw, an nungchangah danglamna eng emaw i hmuh chuan doctor pan vat a pawimawh hle a, a bik takin naupang enkawltu emaw mit lam doctor emaw pan vat a pawimawh hle.

Optic Nerve Hypoplasia natna lan chhuah dan chu engte nge ni?

Hetiang dinhmuna symptoms hmuh tur hian mit pakhat chauh emaw, mit pahnih emaw a nghawng thei a ni.

Mit nena inzawm symptom hmuh theih te:

• Visual impairment: Hei hi mitdelna tlem atanga mit hloh vek (Severe Visual Impairment or Blindness) thlengin a awm thei.
• Nystagmus: Mit chu a sir lehlamah emaw, a chung leh a hnuai lam emaw, rang taka kal chhunzawm zel , darkar second hand ang chi, mahse a rang zawk.
• Strabismus (mit crossed) emaw Esotropia (mit chu kawng khata kawhhmuh lo): Mit pakhat chuan hmalam a hawi nghal thei a, mit dang erawh chu a kalh zawngin a hawi thei thung.
• Thil pakhat ngaihtuah harsa: Thil pakhat, infiamna ang chi, en tura tih a nih chuan, chu mi chuan chu chu a ngaihtuah ṭha thei lo mai thei.

Thluak than dan dik lo vanga lo awm thei symptoms: 1.1.

• Intellectual Development Problems (`(Intellectual Disability)`): Zirna lama harsatna, kum nena inmil taka intellectual abilities lo thanglian loh ang chi thil te.
• Seizures: Thil hriatna hloh nghal leh convulsion.

Pituitary gland thanna tlahniam avanga lo awm thei hormone nena inzawm symptoms:

Hei hi a pawimawh hle a, a chhan chu hormone hian kan taksaah thil tam tak a thunun a ni.

• Taksa hnathawh dan thunun harsa: Entirnan, riltam leh tuihal thunun theih lohna, mut buai, taksa lumna mumal taka vawn that theih lohna.
• Stunting: Kum nena inmil san zawng nei lo, naupang dang aiin a tawi zawk hle.
• Hypothyroidism: Hei hian taksaa thil kalphung tam tak a nghawng bawk.
• Puberty hun sawn hlat.
• Thisen thlum hniam (Hypoglycemia): Hei hi a hlauhawm thei hle.
• Diabetes ang deuha lang mahse sugar nena inzawm lo, zun tam lutuk leh tuihal lutuk (`(Diabetes Insipidus)`) a awm.
• Jaundice: Vun leh mit a sen, a bik takin nausen piang tharte tan.

I fanu te hian infiamna thil en a tum a, mahse a mit chu a focus tha lo niin a lang a, a nih loh leh a khur mai mai niin han mitthla teh. A nih loh leh a luak chhuak reng a, a lum hmel hle a, bawnghnute a in tha lo ang. Hetiang thil i hmuh chuan Doctor pan nghal a ngai a ni.

Optic Nerve Hypoplasia hian mitdelna a thlen thei em?

Thil engemaw takah chuan, a ni. Hetiang dinhmun hian mitdelna nasa tak emaw mitdelna tluantling emaw pawh a thlen thei a ni . Kawng lehlamah chuan naupang thenkhat chuan mit lama harsatna tlemte chauh an nei. A châng chuan naupang a lo upat deuh deuh chuan heng chhinchhiahna ṭhenkhat (nystagmus ang chi) hi a tlahniam thei a ni. I doctor chuan he natna hian i fa a nghawng dan tur dik tak a hrilh thei ang che.

Hetiang dinhmun a lo awm chhan te hi engte nge ni?

Zirchiangtute chuan Optic Nerve Hypoplasia thlentu dik tak hi an la hre chiang lo. Mahse, environment leh genetic factors inkawp vang nia ngaih a ni. Entirnan, he natna hi fetal alcohol syndrome (FAS) nen a inzawm thei a, hei hi nuin naupai laiin zu a in vang a ni.

Genetic cause hi hmuh theih reng ni lo mah se, a then phei chuan genetic changes (`(Mutations)`) hian hei hi a nghawng thei a ni. Heng genetic changes te hi `(Autosomal Recessive)` tia rochun a ni a, chu chu naupangin he altered gene hi nu leh pa hnen atanga a dawn chauhvin he natna hi a nei thei tihna a ni. Genes inrawlh thei thenkhat chu:

• `(HESX1)` tih a ni
• `(SOX2)` tih a ni
• `(SOX3)` tih a ni
• `(OTX2)` tih a ni
• `(PROKR2)` tih a ni
• Gene dang la hriat loh.

Optic Nerve Hypoplasia vei theihna tur risk factors te chu engte nge ni?

Hetiang dinhmun thlen thei risk factor thenkhat a awm. Hengte hi naupai laiin nuin a nghawng fo thinte chu a ni:

• Nu kum 19 hnuai lam.
• A vawi khatna atan naupai a nih avangin.
• Chhungkaw zingah (biological family) mi pakhatin he natna hi a lo nei tawh a ni.

Chhungkaw din emaw, fa dang i beisei emaw a nih chuan nau neih hmaa enkawlna hmun pangngaiah kal a pawimawh hle. Hei hian nang leh i nau piang lai hriselna vawng reng turin a pui ang che.

Hetiang dinhmun hian eng harsatna nge a thlen?

Optic nerve hypoplasia avanga harsatna awm thei hi thluak hmun eng ber nge a nghawng dan azirin a inang lo. Harsatna thenkhat chu:

• Taksa lum leh vawt control theih lohna.
• Riltam leh tuihal lutuk (`(Hyperphagia)`) leh chuvang chuan thau lutuk (`(Obesity)`).
• Chaw ei chakna hloh emaw, ei duh loh emaw (`(Hypophagia)`).
• Mut leh harh cycle-a thil dik lo awm.
• Developmental delays: Hei hian motor skills (kal leh crawling ang chi) leh communication skills (communication skills ang chi) tihkhawtlai tihna a ni.
• Autism Spectrum Disorder (ASD) a ni a, a rilru a hah lutuk a, a rilru a buai em em bawk.

Heng harsatna thenkhat, a bik takin taksa lum leh vawt tihreh leh ei leh in lama harsatna te hi a then phei chuan nunna atana hlauhawm tak a ni thei a, chuvangin fimkhur hle a ngai a ni.

Engtin nge Optic Nerve Hypoplasia hi hriat theih?

He natna hi mit enfiahna leh test dang neih hnuah mit lam doctor-in a hmuchhuak tlangpui. Vawi tam tak chu hetiang chhinchhiahna hmasa ber chu mit chetna pangngai lo a ni. He chhinchhiahna hi naute pian atanga thla hmasa berah hmuh theih a ni. Mahse, a châng chuan naupang chu sikul kal kum emaw, naupang emaw a nih hma loh chuan a lang lo thei a ni.

ONH hi amah chauhin a thleng thei a, chu chu thluak hmun dang a nghawng lo tihna a ni. A nih loh leh, mit nerve bakah hian midbrain leh pituitary gland-a hmasawnna lama harsatna pakhat emaw a aia tam emaw a nei tih hriat theih a ni.

A natna hriat chian nan doctor chuan imaging test a ti thei a, chu chu MRI (Magnetic Resonance Imaging) scan emaw CT scan (Computed Tomography scan) emaw a ni thei. Heng scan te hian doctor chu i fa thluak than dan tur a hriat chian theih nan a pui thin.

Tin, thisen test eng emaw zat tih theih a ni bawk. Hengte hi natna dang, symptom inang nei te chu paih chhuah nan an ti thin. Entirnan, serum cortisol leh growth hormone level te chu enfiah theih a ni. Hengte hi ONH-ah chuan a pangngai lo thei.

Optic Nerve Hypoplasia hi tihdam theih a ni em?

Vanduaithlak takin tunah hian he natna hi damdawi a la awm lo. Congenital condition a nih avangin a let leh thei lo va, a lo awm leh thei lo bawk.

Chuti a nih chuan engtin nge hei hi i enkawl?

Enkawlna hian naupang natna lan chhuah dan thunun a, hahdamna pek a tum a ni. Hei hi mi tin a inang lo thei. Enkawlna lian ber berte chu:

• Vision Therapy hmanga enkawlna:Naupangin nitin hna a thawh theihna tura puitu hmanrua, special glass leh magnifying lens (`low-vision aids`) te hman.
• Hormone Replacement Therapy: Pituitary gland-a harsatna avanga hormone tlakchhamna a awm chuan pawn lam atanga hormone pek thin a ni. Hemi atan hian damdawi bik a awm a.
• Physical Therapy, Occupational Therapy, leh/ emaw Speech Therapy: Heng therapies te hian naupang taksa thanlenna, nitin hna hrang hrang mahni inrintawkna nei thei leh thusawi thiamna tihchangtlun nan a pui thin.

Doctor chuan i fa tan eng ang enkawlna nge tha ber tih a rel ang a, chu mi ang chuan enkawlna ruahmanna a siam ang. I fa chhinchhiahna dang a zirin enkawlna bik dang a ngai thei bawk.

I fate damdawi i pek a ngai a nih chuan i doctor hnenah engtikah nge damdawi pek tur tih te, engzat nge pek tur tih te, engtin nge pek tur tih te, eng side effect nge i hriat tur tih te ngun takin zawt la.

Hetiang dinhmun nen hian naupang hmalam hun chu eng ang nge ni ang?

Optic Nerve Hypoplasia hian a nghawng dan hi mi hrang hrangah a inang lo hle. Symptom thenkhat chu nausen laiah hmuh theih a ni a, thenkhat erawh chu naupan lai emaw, tleirawl lai emaw pawhin a lang thei bawk. Thu lawmawm tak chu he dinhmun hi non-progressive a ni. Hei hian hun kal zelah a dinhmun a chhe lo tihna a ni . Symptom thenkhat, nystagmus ang chi te pawh hi kum upat deuh deuhin a lo tha chho thei bawk.

ONH vei naupangte hian nu leh pa, enkawltu leh doctor-te hnen atangin hun rei tak chhung enkawl leh enkawl an ngai a ni. An hriselna a tha em tih enfiah reng tur a ni. Kum khatah vawi khat tal mit enfiah tur a ni a, a tul angin specialist dang hmuh tur a ni.

Pituitary gland-a harsatna nasa tak chu nunna atana hlauhawm thei mah se, natna hi hriat hmasak a, enkawl hmasak a nih chuan a rah chhuah ṭha ber a ni thei.

Optic Nerve Hypoplasia hi ven theih a ni em?

Tunah hian he natna hi ven dan tur hriat a la ni lo. Naupai i tum a nih chuan i risk factors leh hrisel taka awm theih dan tur hriat belh duh chuan genetic counselor emaw prenatal care provider emaw pan a tha.

Engtikah nge Doctor ka hmuh ang?

I fa mit chu a en tha lo che a, a inmil lo a nih chuan, a nih loh leh a danglam zawnga a che a nih chuan , doctor hmu nghal rawh. Tin, i fa hian an kum nena inmil hmasawnna tur milestone (entir nan, crawling, crawling, or reaching for objects) a thlen loh chuan i doctor hnenah hrilh bawk ang che.

I fain seizure a neih chuan 911 ah call nghal la, damdawi in emergency room hnai ber ah hruai rawh.

Doctor hnenah eng zawhna nge ka zawh ang?

I doctor hnenah hetiang zawhna hi i zawt thei ang:

• Engtin nge ka fa chu a natna lan chhuah dan enkawl turin ka puih theih ang?
• Ka fain hmasawnna kawng a hloh tih ka hriat chuan eng nge ka tih ang?
• Ka fa hian glasses emaw, vision aid dang emaw a mamawh em?
• Engtin nge condition `(ONH)` hian ka fa chu sikul a tan hunah a nghawng ang?
• Ka fa hian engzat nge mit a enfiah tur?

A tawp berah chuan thil hriat reng tur

Nu leh pa i nih angin i fa mit a vakvai a, a en dik loh che chuan mangang leh hlauhna i neih hi thil pangngai a ni. Optic Nerve Hypoplasia tih natna hian i fain chiang taka a hmuh theihna che a nghawng thei a ni. Tin, thluak hmun dang, hna pawimawh tak tak, hormone siam chhuah leh taksa tihhmasawn nana puitu te pawh a nghawng thei bawk.

Mahse, nangmah chauh i ni lo tih hre reng ang che. Doctor chuan i fa chu a enfiah thei a, a natna chu a enfiah thei a, an natna lan chhuahna bikte ang zela enkawl dan tur ruahmanna a siam thei bawk.

Naupangte hian naupang dang aiin sikula tanpuina tlem an mamawh hi thil pangngai a ni a, a bik takin midang aiin an thanlen theih nan hun rei vak lo an mamawh a nih chuan. I fate thanlenna emaw, a thanlenna emaw tichhe thei symptom ngaihtuahawm tak tak i hmuh chuan i doctor hnenah hrilh hreh suh. I fa medical team chuan zawhna i neih apiang chhan turin an inpeih reng a ni. Huaisen takin i fate chu an mamawh enkawlna ṭha ber i pe thei a ni.

` mit nerve hypoplasia, septo-optic dysplasia, pianpui mitdel, mitdel, pituitary gland, naupang thanlenna, nystagmus