xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

Ko te Achromatopsia e pa ana ki te kore e taea e te tangata te kite i nga tae. He maha nga ahua:

Whakaoti achromatopsia whanau

Nā te rerekētanga ira i roto i te kotahi neke atu rānei o ngā ira e whai wāhi ana ki te tirohanga tae, karekau te retina e whakarārangi ana i te tuara o te kanohi e kiia nei ko te “cone” photoreceptor pūtau e wehewehe ana i nga tae me nga taipitopito i te marama. Hua: ka kite nga turoro i te atarangi o te hina. 

xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

Ko te achromatopsia o te whanautanga he wahanga, he kore oti ranei

He ira hoki tenei ahua, engari, kare i rite ki te tuatahi, e hono ana ki te rerekeetanga o te chromosome X, kaore e pa ki nga koeko katoa o te retina. Ka waiho te hunga tairongo ki te kahurangi. Koinei te take i kiia ai tenei pathology "koe puru monochromatism". 

Ko nga turoro e pa ana ki a ia kaore e kite i te whero me te matomato, engari ka kite i te puru. Na te kore rawa o nga koekoe, he tino ngoikore to ratou tirohanga, a, kaore e taea e ratou te aro ki te marama. I te mea ko te achromatopsia kore i oti e hono ana ki te huringa recessive hono ki te X chromosome, ka pa te nuinga ki nga tama tane, he kotahi noa te kape o tenei chromosome (ko te rua tekau ma toru o nga chromosomes he X me te Y ). I te mea e rua nga kromosom X o nga kotiro, me riro mai i a raua te huringa mai i nga maatua e rua hei achromat, he onge noa ake;

Achromatopsia cerebral 

xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

Ko te achromatopsia whanau he mate ira. He maha nga ira ka taea te whakauru: 

• GNAT2 (chromosome 1) ;
• CNGA3 (chromosome 2) ;
• CNGB3 (chromosome 8) ;
• PDE6C (chromosome 10);
• PDE6H (chromosome 12) ;
• a, i roto i te take o te monochromatism koeko puru, OPN1LW me OPN1MW (X chromosome). 

xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

I nga turoro he rereke i roto i te kotahi, neke atu ranei o enei ira, karekau te retina i nga koeko e taea ai e tatou te kite i nga tae me nga taipitopito. He pūtau anake kei roto i nga "kakao", he kawenga mo te kite i te po, i roto i te atarangi o te hina.

Ko te achromatopsia whanau e tohuhia ana e:

• tae matapo : he tapeke tenei i roto i nga achromats oti, e kite ana i te ao he pango me te ma, he tata katoa ranei i roto i te monochromats, e kaha tonu ana ki te wehewehe i te puru;
• photophobia nui, ara, te aro nui ki te marama;
• te iti o te tirohanga, i waenga i te 1/10 me te 2/10;
• un nystagmus, ara, he ohooho ohorere, he ohooho o te poi kanohi, ina koa i te aroaro o te marama kanapa. Ko tenei tohu ka memeha i te wa o te pakeke;
• he petit scotome pokapū, ara, kotahi, neke atu ranei nga waahi iti kei waenganui o te mara tirohanga.

Ko tenei ngoikoretanga mai i te tamarikitanga, engari ko te kore ki te marama me te korikori rereke o nga kanohi o ta ratau peepi te mea tuatahi hei whakatupato i nga matua, ina koa he keehi ano kei roto i te whanau. Ka pakeke te tamaiti ki te whakaputa i a ia ano, ka taea te whakamatautau tae engari kaore e ranea, na te mea ka taea e etahi monochromats te urutau, kia taea ai te whakaingoa i etahi tae. Ko te electroretinogram (ERG) anake, hei ine i te mahi hiko o nga photoreceptors i roto i te retina, ka taea te whakau i te tohu. Ma te tātari ira ka taea te tautuhi i te rerekee e pa ana.

xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx 

Ko te achromatopsia cerebral he ngaro ohorere noa te tirohanga tae i muri i te wharanga o te mahunga, te whiu ranei. 

I tenei wa kaore he rongoa mo tenei pathology, ko nga rongoa anake hei whakaora i nga tohu. Ko te karo ki te marama me te aro ki nga rereke ka taea te whakapai ake ma te mau karaehe me nga arotahi whakapiri ki te whero, parauri ranei, e kiia nei ko "chromogenic". Ko nga mohiti whakanui me te whakanui teitei ka ngawari ake te panui. Arā ano etahi atu awhina hei whakatairanga i te mana motuhake o nga turoro: te whakangungu mo te haere, te whakatikatika i te waa ki te tango i nga whakamatautau whare wananga, aha atu.

Ae. I te mea ko te achromatopsia he mate ira hauhautanga, ka taea te tuku i te tātaritanga o mua i te whanautanga ki nga tokorua e tupono ana, ara ki nga tokorua e kawe ana nga hoa e rua i nga huringa e hono ana ki tenei pathology. Mena he rite tonu te rerekee, he 25% te tupono ka whanau he tamaiti achromatic.

I te take o te monochromatism, ko te whaea anake ka taea te tuku i te ira ngoikore ki ana uri. Mena he tama, he achromatic ia. Mena he kotiro, ka noho ia hei kawe i te rereke, pera i tana whaea.