I mitmeng hi rawng mak tak a ni em? Mit lama harsatna i nei em? Ocular albinism a ni thei!

Mi thenkhatin mit a eng hle tih i hmu ngai em, a nih loh leh an mit chu rawng hrang hrang a ni tih i hmu ngai em? Ni en an harsat thei a, an mit pawh a tui thei bawk. Hei hi a chhan pakhat chu ‘ocular albinism’ an tih natna a ni thei a, chu chu vawiinah hian kan sawi dawn a ni. Hei hi i tan chuan thu mak tak angin a lang thei a, mahse a chungchang hriat a pawimawh hle.

Ocular albinism hi eng nge ni tak tak, ka thian?

A awlsam zawngin, ocular albinism hi albinism chi khat a ni. I mit a nghawng ber a ni . Hetiang dinhmun i neih hian i mit rawng leh i mit hnathawh dan a nghawng a ni.

Ngaihtuah teh, kan mit, vun, leh sam rawng pe thei thil danglam tak a awm a, chu chu melanin . He pigment melanin an tih hian heng rawng hrang hrangte hi a siam a ni. Chu mai ni lovin, he melanin hi kan mit a thawk tha tur leh a hmuh that theih nan a pawimawh hle. Chuvangin, mit albinism vei tan chuan he melanin hi taksaah, a bik takin mit chhungah a siam chhuak tawk lo emaw, mit zawng zawngah a insem darh tha lo emaw a ni. Chumi avang chuan mit insiam dan, chu chu mit siam danah hian tissue thenkhat a nghawng thei a, harsatna dang pawh a awm thei bawk. Hun a kal zel a, hei hian mit lama harsatna a thlen thei bawk .

A pawimawh ber chu melanin hian rawng a pe mai bakah mit hrisel taka hnathawhna atan pawh a pawimawh hle.

Hei hi chi hrang hrang a awm em?

Ni e, mit albinism hi chi hnih lian tak a awm a:

1. OA1: Hei hi Nettleship-Falls OA an ti bawk.

2. OA2: Hei hi Åland Island mit natna emaw Forsius-Eriksson OA tia hriat a ni bawk.

Hei hi genetic condition hmuh tur awm lo tak a ni. Pawn lam atang chuan i nei tih i hre thei lo mai thei. Mahse, khawvel i hmuh danah nghawng lian tak a nei thei a ni. Pawn lam atanga chhinchhiahna nei lo emaw, tlem emaw nei dinhmun avanga lungawi lohna leh hlauhthawn hi hriatthiam theih a ni. Mahse, mit lam doctor leh healthcare provider dangte chuan enkawlna dik tak hmu turin an pui thei che a ni.

Ocular albinism vei mi pakhatin eng symptoms nge a neih?

Ocular albinism vei thenkhat chuan iris blue emaw gray emaw an nei thei. Mahse, mit sen (brown eyes) neih theih a ni bawk. Chuvangin hei hi mit rawng ringawt hian a hriat chian theih loh.

Mit bik thil dangte chu:

• Nystagmus: Hei hi mit chet chak tak, thunun theih loh, zai ang maia che vel a ni. Hei hian hmun khata ngaihtuahna sen a harsa thei hle.
• Color vision tlakchham emaw colour blindness emaw: Rangkachak thliar hran thiam loh emaw, rawng thenkhat hmuh loh emaw.
• Strabismus leh Binocular Vision Dysfunction: Hei hi mit chu kawng khata hawi lovin, mit pakhat chu kawng dang a hawi zawk a ni. Hei hian double vision (binocular vision dysfunction) a thlen thei a ni.
• Blurred vision emaw double vision emaw: Chiang taka hmuh theih lohna.
• Photophobia: Ni êng leh êng êng tak takte laka sensitive lutuk . Mit chu a sen a, êng tlemte pawh a tuar thei lo. Mit atang hian mittui a luang chhuak thei.
• Refractive errors: Heng thilte hian glasses kan bun tir thin. Entirnan, myopia (nearsightedness) leh hyperopia (farsightedness) ang chi thil te.
• Mit tlem: A châng chuan hei hi a na lutuk thei a, dan anga mitdelna a thlen thei a, chu chu glasses hmang pawhin mit a tlem hle tihna a ni.

Hei hian mit chauh a nghawng em?

Ocular albinism hian mit a nghawng fo thin. Mahse, mit nena inzawm lo symptom pakhat a awm. Chu chu late-onset sensorineural hearing loss a ni . A hming ang ngeiin hei hian kum 50 an tlin hmain hriatna a hloh phah a, mahse, mi zawng zawng a nghawng lo.

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

Ocular Albinism hi genetic condition a ni a . A awlsam zawngin kan genes, a nih loh leh DNA-a mutations avanga lo awm a ni. Heng genetic changes te hian kan taksain melanin a siam chhuah emaw, a sem darh dan emaw chu a bik takin a nghawng a ni.

Heng genetic changes (mutations) te hi a awm theih dan kawng hnih a awm a:

1. Inherited: Hei hian he genetic variation hi i nu leh pa dik tak pakhat emaw, pahnih emaw hnen atangin i rochun tihna a ni. Hei hi autosomal recessive inheritance an ti a .

2. Sporadic - de novo: Hei hian embryo a lo pian chhuah laiin a genetic change chu randomly, de novo, a thleng tihna a ni. Nu leh pa atanga rochun a ni lo.

Engtin nge doctor hian ocular albinism hi dik taka a hriat theih? (Diagnosis) tih a ni.

Doctor emaw mit lam doctor emaw chuan i mit a enfiah hian i mit hmuh theiha danglamna engemaw zat avang hian ocular albinism an ringhlel mai thei. Chumi hnuah chuan ocular albinism a ni tak tak em tih leh eng type leh subtype nge a nih tih finfiah nan kawng engemaw zat an hmang a ni.

I mit specialist-in a hmuh theih tur chhinchhiahna thenkhat chu hetiang hi a ni:

• Iris transillumination a awm chuan:Transillumination chu i mit iris thim tak atanga êng kal tlangna a ni. Melanin a awm loh avangin iris chu a thim deuh a, êng a kal tlang thei a ni.
• Retinal danglamna: Ocular albinism hian a chang chuan i retina hmun bik – mit hmuhna tura puitu hmun – fovea an tih chu a pianzia a tidanglam thei a ni. Fovea hi thil chiang taka kan hmuhna hmun a ni. Chuvangin, heng inthlak danglamna te hian retina hnathawh dan a nghawng thei a ni.
• Nerve structure danglamna: Ocular albinism i neih chuan i mit leh i thluak inzawmtu optic nerve -ah structural danglamna i nei tam zawk. Heng danglamna te hian i thluak hian visual signal a process dan leh khawvel i hmuh dan a nghawng thei a ni.

Hei bakah hian ocular albinism hriat theihna tura pui thei test dang pawh a awm a:

• Thisen test a ni
• Genetic testing neih a ni
• Visual evoked potentials (VEP) hmanga enfiah a ni
• Optical coherence tomography (OCT) hmanga enfiah a ni
• Slit lamp exam a ni

Thil engemaw takah chuan mit lam natna vei naupang nu leh pa pakhat emaw, pahnih emaw test hian naupang mit lam natna chi hrang hrang a neih tih hriat theih nan a pui thei a ni.

Ocular albinism hi tihdam vek theih a ni em?

Ni lo, a dam kim thei lo. Ocular Albinism hi thlahtute atanga lo chhuak a ni. Chumi awmzia chu kan DNA inthlak danglamna avanga lo awm a ni tihna a ni. Chuvangin, a hnuaia genetic condition awm chu enkawl theih a ni lo.

Mahse, a pawimawh ber chu, ocular albinism-in mit a nghawng dan – refractive errors emaw strabismus emaw ang chi te hi a tam zawkah chuan enkawl theih a ni. Heng enkawlnate hian mit a ti tha thei a, mahse a hnuaia genetic disease awm chu a tidanglam lo.

Ocular albinism chi hrang hrang i neih pawhin, a nghawng chu eng pawh ni se, i mit lam doctor chuan enkawlna awm thei tur chungchangah thu tha ber ber a pe thei che a ni.

Doctor hnena zawh tur pawimawhte chu engte nge ni?

I doctor emaw mit lama mithiam emaw zawhna hetiang zawhna hi zawh a tha ang:

• Eng ang ocular albinism nge ka neih?
• Hei hi ka rochun thil a ni em?
• Ka biological fate hian hei hi ka hnen atangin an rochun thei ang em?
• Eng enkawlna nge i rawt?
• Min pui thei tur thil dang (e.g., support group, zirna hmanrua) a awm em?

Ocular albinism i neih chuan eng nge beisei tur?

Ocular Albinism hi dam chhung zawnga natna a ni. Mahse, pawn lam mite hmuh theih loh "hmu theih loh dinhmun" a ni thei fo. Mi tam tak chuan mit an enfiah a, an mit chhungah inthlak danglamna an hmuh hma loh chuan he natna hi an nei tih an hre lo. Hetiang natna vei te hian mitdelna hi a nasat loh atanga na tak thlengin an nei thei a ni .

Ocular albinism vei te hian an dam chhungin mit enkawl chhunzawm zel an mamawh a ni. Tin, a châng chuan, nu leh pate chuan an fain he natna lan chhuahna a neih hian a thlentu genetic changes kengtu an ni tih an hre thei bawk.

Ocular albinism neih hian khawvel i hmuh dan a nghawng thei a, mahse i duh ang anga i nun i hman loh nan a khap a ngai lo.

I natna lan chhuah dan tihtlem emaw, enkawl emaw thei tur leh he natna nghawng nen hian nung thei tur enkawlna a awm. Mit enfiah fo hian i mit a hrisel theih nan a pui thei bawk.

Nangmah emaw, i fa emaw hian ocular albinism i nei a nih chuan, i mamawh tur resources leh opportunity i hmuh theih nan nangmah ngeiin i advocate a ngai mai thei. I doctor emaw mit lama mithiam emaw nen inbia ang che. Kaihhruaina leh puihna an pe thei che a ni. Ocular albinism vei te tan pawh online community-ah tanpuina i hmu thei bawk a, chu chuan i dinhmun a insiamrem theih nan leh i duh ang nun i hman theih nan a pui thei che a ni. Lungngai suh, nangmah chauh i ni lo.

Hemi atang hian take-home message kan lak duh chu eng nge ni?

Okay, chuti a nih chuan tunah chuan vawiin a kan sawi tawh, Ocular Albinism hi i hrethiam zawk tawh ang. Hriat reng tur pawimawh thenkhat chu hetiang hi a ni:

• Ocular Albinism hi mit a melanin tlakchham vangin genetic condition a ni. Hei hian mit hmuhna leh mit rawng a nghawng thei a ni.
• Hei hi a lan chhuah dan a inang lo thei. Mit chetna (nystagmus), êng hriatna (photophobia), mit hmuhna tlahniam te ang chi thil a awm thei.
• Dam kim theih ni lo mah se, a natna lan chhuah dan enkawl dan tur leh mit hmuhna tichangtlung thei tur enkawlna a awm.
• Mit enfiah fo leh damdawi lam thurawn neih a pawimawh hle.
• Nangmah emaw i fa emaw hian he natna hi i nei a nih chuan hlauthawng suh. Support leh information dik tak i neih chuan i nunpui thei ang.

Hemi chungchanga zawhna dang i neih chuan i doctor nen inbia ngei ang che. Hrisel takin awm rawh!

` Mit Albinism, Mit Albinism, Mit Natna, Mit Natna, Melanin, Genetic Diseases, Mit Hriselna