
janmana nischalamaaya rathraandhatha

jananendria nischalamaaya rathraandhatha (sii. ezz. enn. bii) oru apoorva purogamanaparamallattha rettina thakaraaraan. csnb ulla aalukalkk palappozhum photoriseptar transmission thakararilaayathinaal kuranja prakasha saahacharyangalumayi poruthappedaan budhimuttaanu. eee rogikalkku kaazhchayude theekshnatha, myopia, nistaagmas, strabismus ennivayum kuravaayirikkaam. csnbic rund roopangalundu-poornnavum type-1 (csnb 1) ennum ariyappedunnu, apoornnavum type-2 (csnb 2) ennum ariyappedunnu, avaa vyathyastha rettina paathakalude pankaalithatthaal verthirichariyappedunnu. csnb1 ll, bipolar cellukal ennariyappedunna downstream neuronukalkku photoriseptar cellukalil ninnulla neuro transmission kandethaan kazhiyilla. nikes" ulppede neuro traansmittar kandethalil ulppedunna vividha jeenukalile mutationukal moolamaanu csnb 1 undaakunnath. csnb2-ll, photoriseptarukalkku thanne neuro transmission pravartthanam thakararilaayirikkunnu; ithu praadhamikamaayi neuro traansmittar releasinaayi pradhanappetta oru volteju-gated kaalsyam chaanaline encode cheiyunna "cacna 1 eph" jeenil mutationukal moolamaanu undaakunnath. trpm1" (kuthira, "elpi"), "gm6" (kuthira, "csnb2"), "" lirt3 "(naaya, csnb) ennivayile parivartthanangalude falamaayaanu kuthirakalilum naaykkalilum csnb thiricharinjathu"."
ulppettirikkunna jeenukale aashrayich ex-linked, autosomal dominent allengil autosomal resussive paattenil janmana nischalamaaya rathraandhatha (csnb) paarambaryamaayi labikkum. 
rund tharatthilulla csnb kuthirakaleyum badhikkum, onnu kuthirakode nirangalude pullipuliyude samuchayavumayi bandhappettirikkunnu, mattonn chila kuthira enangalil kaanapedunnu. randum autosomal resessiveukal aanu.
lakshanangalum adayaalangalum.
autosomal roopangalil saadhaaranayaayi illaatha mayopiyayude saannidhyathiloode ex-linked tharam konjenittal steshanari naitt blindnessine (csnb) autosomal roopangalil ninnu verthirichariyaan kazhiyum. csnb ulla rogikalkku palappozhum ratri kazhcha, myopia, kaazhchayude theevratha kurayal, strabismus, nistaagmas enniva undakam. csnb (csnb1) yude poornna roopamulla vyakthikalkk vadi samvedanakshamatha valare kuravaanu (~ 300x kuranju) athupole koonn pravarthanarahithavumaanu. apoornnamaaya roopamulla rogikalkku myopia allengil hyperpia undakam.
kaaranam.
rettinayile bipolar cellukalilekku vadi, koonn photoriseptarukal ennivayil ninnulla neuro traansmissionile thakaraarukal moolamaanu csnb undaakunnath. eee aadya synapsil, photoriseptarukalil ninnulla vivarangal rund chaanalukalayi thirichirikkunnu oonum oofum. oonn pathway velicham aarambhikkunnath kandethunnu, athesamayam oof pathway laitt offset kandethunnu. photoriseptarukalil ninnu purathuvarunna neuro traansmittar kandethanulla oonn-type bipolar cellukalude kazhivine thadassappeduthunnathiloodu csnb 1 leeii thakaraarukal prathyekamaayi paathaye badhikkunnu. kuranja prakasha kaazhchaykk kaaranamakunna vadi, oonn-type bipolar cellukalumaayi maathrame sanbarkkam pularthunnulloo, athesamayam, thelichamulla prakasha kaazhchaykk kaaranamakunna konukal, oof upavibhagangalil randilum bipolar cellukalumaayi sanbarkkam pulartthunnu. kuranja prakasha sensing vadi vazhiyil maathram bhakshanam nalkunnathinaal, csnb 1 ulla vyakthikalkk saadhaaranayaayi ratri kaazhchayil prashnangalund, athesamayam nalla prakashamulla saahacharyangalil kazhcha ozhivaakkappedunnu. csnb2-ll, photoriseptarukalil ninnulla neuro traansmittarinte release thakararilakunnu, ithu vazhikalilekkum purathekkumulla edapedalukalilekku nayikkunnu.
csnb nirnnayikkunnathinulla oru pradhana upakaranamaan electrorettinogram (erji). oru prakaashaprakaashathodulla prathikaranamaayi foto transduction kaaskedinte pravartthanatthe prathifalippikkunna erg eiii-wave, csnb rogikalil saadhaaranayaayi saadhaaranamaanu, ennirunnaalum chila sandarbhangalil foto transduction baadhikkappedunnu, ithu oru kuranja eiii-vevilekku nayikkunnu. praadhamikamaayi oonn-bipolar koshangalude pravartthanatthe prathifalippikkunna erg bii-tharamgam csnb 2 kesukalil valareyadhikam kurayukayum csnb 1 kesukalil poornnamaayum illaathaavukayum cheiyunnu.
janithakashasthram.
moonnu rhodopsin mutationukal maathrame janmana nischalamaaya raathraandhathayumaayi (csnb) bandhappettathayi kandethiyittulloo. eee mutationukalil randennam gly-90, threy-94 ennividangalile rhodopsinte randaamathe transmembran helixil kaanapedunnu. prathyekichum, eee mutationukal gly90esp threy94ailumaan, ithu ettavum puthiya report cheyyappetta onnaanu. moonnaamathe mutation alaa292glu aanu, ithu ezhaamathe transmembron helixil, lies-296 leeii rettina attaachment saittin sameepamaan sthithicheyyunnathu. csnbumaayi bandhapetta mutationukal protonated shif bays (psb) linkejinu sameepamulla amino assid avashishtangale badhikkunnu. avaa roopeekarana sthirathayilum pii. ezz. bii naitrajante protonated nilayilum varunna mattangalumaayi bandhappettirikkunnu.
pathophysiology.
csnb1.
anjjaathamaaya pravartthanatthinte cheria lucine adangiya aavarthana (elrr) kudumba proteine encode cheiyunna nikes jeenile (ex-chromosomile naiktalopin) mutationukal moolamaanu nictalopia ennum ariyappedunna ex-linked konjenittal nischalamaaya raathraandhathayude poornna roopam undaakunnath. eee proteinil oru enn-terminal signal peptaidum 11 elrs (elrr 1-11) sisttain adangiya elrs (elrnt, elaaraarekt) adangiyirikkunnu. proteente sii-terminasil oru anumanaparamaaya gpi aankar saitt undu. naiksinte pravartthanam ithuvare poornnamaayum manassilakkappettillettim, ithu baahyakoshaakruthiyilaanu sthithicheyyunnathennu vishwasikkappedunnu. chila elikalil naiksile 85 bays swaabhaavikamaayi illaathaakkunnathu "noob" (bii-wave illa) phenotypilekku nayikkunnu, ithu csnb 1 rogikalil kaanappedunnathin valare saamyamullathaan. rettinayile vadi, koonn koshangalilanu pradhaanamaayum nikes prakadippikkunnathu. proteiniludaneelam sthithicheyyunna csnb 1, table 1 ennivayumaayi bandhapetta envikesil nilavil ekadesham 40 ariyappedunna mutationukal undu. naiktalopin proteente pravartthanam anjjaathamaayathinaal, eee mutationukal kooduthal savisheshathakalullavayalla. ennirunnaalum, avayil palathum pravarthanarahithamaaya proteinukalilekku nayikkumennu pravachikkappedunnu.
csnb2.
rettinayil valareyadhikam prakadippikkunna volteju-gated kaalsyam chaanal cav1.4 encode cheiyunna cacna 1eph jeenile mutationukal moolamaanu ex-linked konjenittal steshanari naitt blindnessinte (CSNB2) apoornna roopam undaakunnath. eee chaanalinte pradhana savisheshathakalilonn athu valare kuranja nirakkil nirjjeevamaakkunnu ennathaanu. depolarisation samayat susthiramaaya sii. eiii. 2 + entry undakkaan ithu anuvadikkunnu. prakaashatthinte abhaavathil photoriseptarukal depolarise aakumbol, depolarisation samayat neuro traansmittar release nalkunnathinu cav1.4 chaanalukal pravartthikkunnu. photoriseptar kaalsyam signalukal ganyamaayi kuracha cacna 1 eph mutent elikalil ithu theliyikkappettittund. nilavil chaanaliludaneelam sthithicheyyunna cacna 1ephil 55 mutationukal undu, table 2, figure 1 enniva. eee mutationukalil bhooribhaagavum vettimattappettathum pravarthanarahithavumaaya chanalukalkk kaaranamaakumbol, photoriseptarukale hyperpolarise cheyyaanulla prakaashatthinte kazhivine avaa thadayumennu prathekshikkunnu. ariyappedunna pravarthanaparamaaya prathyaaghaathangalulla mutationukalil, 4 chaanalukal poornnamaayum pravarthanarahithamaayathum rund chaanalukal wilde-typinekkaal valare kooduthal hyperpolarised pottanshyalukalil thurakkunnathinum kaaranamaakunnu. ithu prakasha preritha hyperpolarisationusheshavum neuro traansmittar purathuvidunnathu thudarunna photoriseptarukalkku kaaranamakum.