
kejer yokka optic neuropathy

aadhipatya optic ksheenata (dova), ledhaa autosomal dominant optic ksheenata (adova), (kjers rakam) anedi svayamchaalakamgaa vaarasatvamgaa vacchina vyaadhi, idhi optic naraalanu prabhaavitam chestundi, idhi baalyamlo praarambhamayye drushya teekshanhata mariyu andhatvaanni taggistundi. ayithe, eee vyaadhi presbiopia lakshanaala prarambha prarambham kaaranamgaa marinta drushti nashtamtho rendavasari tirigi kanipinchavacchu (antey.ii., vastuvulanu daggaragaa chudadamlo ibbandi). dova anedi retina ganglian kanaalu (argisi) anie piluvabade neuronlanu prabhaavitam chese lakshanamgaa vargeekarinchabadindi. eee paristhiti optic naraala fibers yokka maranaaniki madhyavartitvam chese mitochondrial panicheyakapovadam valla vastundi. argisi oxanlu optic naraanni yerparustaayi. anduvalla, eee vyaadhini kendra naadii vyavasthagaa pariganinchavacchu. 1896loe batton mottamodata vaidyaparamgaa aadhipatya optic ksheenatanu varninchaaru mariyu 1959loe eee vyaadhitho badhapaduthunna 19 kutumbaalanu adhyayanam chesina danish netra vaidyudu paul kejar paeru meeda kjers optic neuropathy anie paeru pettaru. aadhipatya optic ksheenata anedi atyanta saadhaarana autosomally vaarasatvamgaa vacchina optic neuropathy (i.ii., optic naraala vyaadhi), idhi tarachugaa tappugaa nirdhaarana cheyabadutundi.
pradarsana.
autosomal dominant optic atrophy anedi vaidyaparamgaa vivikta dwaipaakshika optic neuropathy (naan-syndromic roopam) gaa ledhaa adanapu-occular sanketaalato (syndromic roopam) sanklishtamaina samalakshanamgaa pradarsinchavacchu.
aadhipatya optic ksheenata saadhaaranamgaa baalyamlo praarambhamayye drushti nashtam yokka nemmadigaa pragatiseela namoonaalo rendu kallanu daadaapu samaruupamgaa prabhaavitam chestundi mariyu anduvalla baalya andhatvaaniki dohadam chestundi.
humprey vijuval feeled (hetch. vii. eff) anedi balaheenamaina drushti unna praantaalu ekkada sambhavinchayo gurtinchagaladu, idhi saadhaaranamgaa dova rogulaku kendra, centrosecal ledhaa paracentral scotomasga kanipistundi. maroka drushya pareeksha-optical coherence tomography (aakt) optic naraala talanu vislaeshistumdi-retina naraala fiber pora (rnfl) mariyu ganglian sell pora sannabadatam vanti vyaadhi yokka itara nirmaanaatmaka parinaamaalanu chooputundi. fundus yokka chaayaachitraalu optic disk yokka taatkaalika vaipu cheelika aakaaramlo saadhaarana optic ksheenatanu chuuputaayi. 89 saatam dova rogulalo kaneesam oka kallalo optic disk cupping kanugonabadindi.
kendra drushya kshetraala nashtamtho, telikapati nundi teevramaina varaku maarutuu unde drushya teekshanhata nashtamtho paatu, rangu drushti lopam untundi, saadhaaranamgaa 6/6 (meterlalo, 20/20, ft kii samanam) nundi 6/60 (20/20 0, ft) varaku untundi, dheeni madhyastha viluva 6/36 (sumaruga 20/125 ft kii samanam), sarididdabadina drushti. drushti nashtam konnisaarlu marinta teevramgaa undavacchu.
pareekshalo kanipinche fundus (kannu) yokka lakshana maarpulalo optic ksheenata untundi. konni sandarbhaallo, indulo optic disk yokka glaucoma maadirigaane optic disk cupping undavacchu. 
aadhipatya optic ksheenata prarambham kapatamainadi kabatti, rogulu daani prarambha dasallo tarachugaa gurtincharu mariyu saadhaarana paatasaala kanti pareekshalalo anukokunda teesukobadataayi. dova yokka modati sankethaalu saadhaaranamgaa 6-10 vayassu madhya untaayi, ayithe 1 samvatsaram vayassu lone pradarsinchabadataayi. konni sandarbhaallo, aadhipatya optic ksheenata prarambha yuktavayassu varaku upa chikitsaalayamgaa undavacchu. lakshanaalu saadhaaranamgaa baalyamlone kanipinchadam praarambhamavutaayi, vayojana rogulu (35 samvatsaraala vayassu chuttoo) saadhaaranamgaa kotta praarambhamlo drushti nashtam gurinchi firyadu chestaaru.
dova rogulu chadavadaaniki vastuvulanu vaari mukhalaku daggaragaa pattukovadam alavaatu padatam valla akaala presbiopia aavirbhavam sambhavistundi. phalitamgaa, akaala presbiopianu saricheyadaaniki vaatini lenslanu suuchimchadaaniki donders karvnu upayoginchakudadu. mukham nundi sumaru 16 angulaala nundi chadive vyaktula aadhaaramgaa lekkinchadaaniki badulugaa, dova rogulu vaari chadavadam dhooram tagginanduna sumaru 8 angulaala vadda lekkinchaali.
aadhipatya optic ksheenata yokka purogati oke kutumbamlo kooda maarutuu untundi. kondarilo koumaaradasalo drushya teekshanhata sthireekarinchadamtho telikapati kesulu untaayi, itarulu nemmadigaa conny nirantaram abhivruddhi chendutunna kesulu kaligi untaaru, mariyu itarulu ippatikee drushya teekshanhatalo akasmaattugaa dasha-vanti taggudalanu kaligi untaaru. saadhaaranamgaa, koumaaradasalo paristhiti yokka teevrata roogi yokka vayojana jeevitamlooni chaalaa varaku aasinchabade mottam drushya paniteeru sthaayini pratibimbistumdi (votruba, 1998). konni kutumbaalalo madhya vayassu chivarilo teekshanhata nemmadigaa taggutundi.
autosomal dominant optic atrophy yokka sanklishtamaina sandarbhaallo, dwaipaakshika optic neuropathy thoo paatu, naraala sambandhita prameyam yokka aneka itara naraala sankethaalanu arudugaa gamaninchavacchuhu paridheeya naralavyadhi, chevititanam, cerebellar ataxia, spaastik paraparesis, mayopati.
janyusaastram.
aadhipatya optic ksheenata anedi autosomal aadhipatya paddhatiloo vaarasatvamgaa vastundi. antey, eee vyaadhi unna bhinnamaina rogiki, athani/aame bhaagaswaamiki vyaadhi ledani bhaavinchi, prati santaanaaniki vyaadhi sankraminche avakaasam 50 saatam untundi. purushulu mariyu mahilalu oke retutho prabhaavitamavutaaru. dovaku adhika vyaapti (98 saatam) unnappatikee, dova yokka teevrata mariyu purogati oke kutumbamlo kooda chaalaa maarutuu untaayi.
pathophysiology.
mitochondria panicheyakapovadam valla optic naraala fiber kolpovadam valla aadhipatya optic ksheenatalo drushti nashtam jarugutundi. chromosome 3, praantam q28-qter loe kanipinche opa1 janyuvu yokka utparivartanato aadhipatya optic ksheenata mudipadi untundi. alaage, 5 itara chromosome janyuvulu optic ksheenataku kaaranamavutaayani varninchabaddaayih opa2 (x-linked), opa3 (dominant), opa4 (dominant), opa5 (dominant) mariyu opa6 (recessive) (omim 165500 chudandi).
mitochondrial lopali poranu lakshyamgaa chesukunna dynamine-sambandhita gtpace protein kosam opa1 janyu sankethaalu. mitochondrial fusion sanghatanala samayamlo mitochondrial lopali pora kalayikalo mariyu kana marana niyantranalo opa1 pratyaekamaina paatralanu kaligi undhi.
mitochondria anevi upakana nirmaanaalu, ivi jeevakriya nundi saktini utpatti chesi, kanaala vidhula kosam vivikta upayoginchadagina unitla (eah. tii. pii) gaa maarustaayi (aakseekarana phosphorylation, electron ravana golusu chudandi). retina ganglian kanaalu (neuronlu) optic naraalanu tayaaru chestaayi mariyu podavaina myelinated bhaganni kaligi untaayi, anduvalla adhika shakti demand mariyu mitochondrial panicheyakapovadam patla sunnitatvam untundi. idhi mukhyamgaa retina yokka papillomacular bandilloo kanipinche chinna akshatantuvulaku sambandhinchinadi, ivi kendra drushya kshetraaniki sambandhinchina samacharanni prasaram chestaayi. eee chinna akshatantuvula uparitala nishpattulu vaatini mitochondrial balaheenatalaku marinta haani kaligistaayi. autosomal dominant optic ksheenata dwara prabhaavitamaina rogula nundi kanaalapai biochemical mariyu mitochondrial morphological adhyayanalu aakaaramlo teevramaina lopaanni choopinchaayi (chinna golaalalo mitochondrial gottala yokka chaalaa visaeshamaina sakalamtho) mariyu mitochondria pampinhee, bioenergetic lopam (swaasakosha golusu function, eah. tii. pii samslaeshanha mariyu reactive oxygen jaatula utpatti) ledhaa apoptosis nundi swatantramgaa sambhavistundi, idhi mitochondrial fusion lopam praadhamika pathogenetic mechanism anie suuchistumdi, ayithe variable bioenergetic lopaalu kooda dviteeya drugvishayamgaa sambhavinchavachhu, mukhyamgaa sanklishtamaina phenotypes mariyu bahula mitochondrial-dna tolagimpula cherikatho teevramaina sandarbhaallo.
opa1 janyuvu yokka 200 kii paiga vibhina utparivartanalu dova kii kaaranamavutaayani nivedinchabadindi, veetilo ekkuva bhaagam protein yokka utpreraka domainlo sambhavistaayi.
opa1 janyuvu vadda utparivartanalu saadhaarana tension glaucoma (omim 606657) mariyu chevititanam (omim 125250) thoo kooda sambandham kaligi untaayi.
nirvahana.
prastutam, aadhipatya optic ksheenataku nivaarana chikitsalu andubaatulo laevu. konni adhyayanalu idebenone vadakam opa1 mutation unna dova rogulaku drushya teekshanhatalo telikapati merugudalato mudipadi undani kanugonnayi. idebinone anedi complexes i nundi complexes III varaku neerugaa taggina eah. tii. pii samslaeshanha mariyu lopabhuishta aakseekarana phosphorylation dwara prabhaavitamaina electronlanu shottling cheyadam dwara antioxidantga panichestundi. saadhaaranamgaa, idebenone rojuku moodu saarlu teesukoovaalani suuchistaaru.
rogulu vaari kanti samrakshana nipunulache drushtilo maarpula kosam paryaveekshinchabadaali. rogula pillalanu aadhipatya optic ksheenataku sambandhinchina drushya maarpula kosam kramam tappakunda pareekshinchaali. chikitsalanu abhivruddhi cheyadaaniki eee vyaadhini marinta vargeekarinchadaaniki parisoedhana jarugutondi.
november 2018 nundi, cure adova foundation thoti rogulu mariyu vaari kutumbaalapai drushti saarinchindi. vaariki eee krindi lakshyalu unnaih shaastreeya parisoedhana, vyaadhi avagahana, palgonna anni paarteela madhya paraspara charya mariyu rogulaku nammadagina pradaesam.
sanghatana.
danish janabhalo (votruba, 1998) aadhipatya optic ksheenata yokka sambhavam 1:50,000 gaa anchanaa veyabadindi, dheeni praabalyam 1:10,000 gaa undhi.