Achromatopsia, iyo inonziwo achromatia, inzvimbo isingawanzoitiki yeziso iyo inokudzivisa kuona mavara. Iyo ine genetic mavambo muzviitiko zvakawanda, asi inogona zvakare mhedzisiro kubva mukukuvadzwa kwehuropi. Varwere vanobatwa vanoona nyika mune zvitema nemuchena.

Achromatopsia inoreva kusakwanisa kwemunhu kuona mavara. Kune akawanda mafomu:

Complete congenital achromatopsia

Nekuda kwekuchinja kwemajini mune rimwe kana mamwe majini anosanganisirwa mukuona kweruvara, retina inotenderera kuseri kweziso inoshaya anonzi "cone" photoreceptor masero anosiyanisa mavara uye zvakadzama muchiedza. Mhedzisiro: varwere vakabatwa vanoona mumumvuri wegrey. 

Mukuwedzera, vane hunyoro hwepamusoro kune chiedza uye kuderera kwakanyanya kwekuona. Zvose izvi kubva pakuzvarwa. Uhwu hupofu hwemavara huri kubatanidzwa nemajini ekare, hunongobata vanhu vane vabereki vaviri vatakuri vekuchinja kwakafanana uye vakaendesa kwairi. Ichi ndicho chikonzero kuwanda kwayo kwakaderera, kwehurongwa hwe1 kesi pa30 kusvika ku000 kuberekwa pasi rose;

Chikamu kana chisina kukwana congenital achromatopsia

Iyi fomu inewo genetic, asi, kusiyana neyekutanga, yakabatana nekuchinja paX chromosome uye haikanganisi makoni ese eretina. Inosiya avo vanonzwa nebhuruu. Ichi ndicho chikonzero chirwere ichi chinonziwo "blue cone monochromatism". 

Varwere vane nayo havaoni zvitsvuku uye zvakasvibirira, asi vanoona bhuruu. Nekuda kwekushaikwa kwemakoni akakwana, kuona kwavo kwakashata zvakanyanya uye havagone kushivirira chiedza. Sezvo achromatopsia isina kukwana ichibatanidzwa nekuchinja kusingadzoreki kwakabatana nechromosome yeX, inonyanya kubata vakomana, vane kopi imwe chete yechromosome iyi (mbiri yavo yechi23 yemachromosome inoumbwa naX naY). Sezvo vasikana vane machromosome maviri eX, vanofanira kunge vakagara nhaka kuchinja kubva kuvabereki vose kuva machromats, ayo ari mashoma zvikuru;

Cerebral achromatopsia 

Haisi yekwakabva. Inoratidzika kutevera kukuvara kwehuropi kana tsaona yecerebrovascular (stroke) inokanganisa cortex yekuona. Varwere vane retina yakajairika uye vakaona mavara zvakanyanya kusvika panguva ino vanorasikirwa nekukwanisa uku zvachose kana kuti zvishoma. Uropi hwavo hahuchagoni kushandisa rudzi urwu rwemashoko.

Congenital achromatopsia chirwere chemajini. Zvikamu zvinoverengeka zvinogona kubatanidzwa: 

• GNAT2 (chromosome 1);
• CNGA3 (chromosome 2);
• CNGB3 (chromosome 8);
• PDE6C (chromosome 10);
• PDE6H (chromosome 12);
• uye, kana iri yeblue cone monochromatism, OPN1LW uye OPN1MW (X chromosome). 

Nepo congenital achromatopsia inozviratidza kubva pakuzvarwa, kune mashoma mashoma anowanikwa achromatopsia. Zvinokonzerwa nekukuvadzwa kwehuropi: kushungurudzika kana sitiroko inokanganisa cortex yekuona.

Mune varwere vane shanduko mune imwe kana akawanda emajini aya, retina haina macones anotibvumira kuona mavara uye ruzivo. Vane masero chete mu "tsvimbo", anotarisira pane chiratidzo chehusiku, mumumvuri wegrey.

Congenital achromatopsia inoratidzwa ne:

• ruvara upofu : izvi zvakazara mumachromats akazara, avo vanoona nyika mune nhema uye chena, kana inenge yakazara mu monochromats, avo vachiri kukwanisa kusiyanisa bhuruu;
• zvakakosha photophobia, kureva, hypersensitivity kune chiedza;
• kuderedzwa kwekuona acuity, pakati pe1/10 ne2/10;
• un nystagmus, kureva, kungoerekana kwaitika, jerky oscillation yeziso reziso, kunyanya pamberi pechiedza chakajeka. Ichi chiratidzo chinogona kupera nezera;
• pakati petit scotome, ndiko kuti, imwe kana mamwe madiki madiki ari pakati penzvimbo yekuona.

Kushaikwa uku kuripo kubva paudiki, asi ndiko kuvenga chiedza uye kufamba kusiri kwemazuva ose kwemaziso emwana wavo kunotanga kuzivisa vabereki, kunyanya kana pane zvimwe zviitiko mumhuri. Kana mwana akura zvakakwana kuti ataure zvaanoda, kuongorora ruvara kunogona kuitwa asi hakuna kukwana, sezvo mamwe monochromats achikwanisa kugadzirisa, kusvika pakukwanisa kutumidza mamwe mavara. Chete electroretinogram (ERG), kuyera basa remagetsi remafotoreceptors muretina, rinogona kusimbisa kuongororwa. Kuongororwa kwemajini kunoita kuti zvikwanise kutsanangura shanduko iri mubvunzo.

Congenital achromatopsia chirwere chakagadzikana. Zvisinei, kuderera kunofambira mberi kwe macula, kureva, nzvimbo iri pakati pe retina, inogona kuonekwa mune vamwe varwere, kunyanya sezvavanokura. 

Cerebral achromatopsia inongova kurasikirwa kamwe kamwe kwemavara ekuona mushure mekukuvara kwemusoro kana sitiroko. 

Ikozvino hapana kurapwa kweiyi pathology, chete mhinduro dzekubvisa zviratidzo. Kuvenga chiedza uye kunzwa kune misiyano kunyanya kunogona kuvandudzwa nekupfeka magirazi kana kuonana lenzi dzakatsvuka kana brown, inozivikanwa se "chromogenic". Kukudza magirazi pakukwidziridza kungaita kuti zvive nyore kuverenga. Kune zvakare zvimwe zvinobatsira kusimudzira kuzvimiririra kwemurwere: kudzidziswa mulocomotion, kugadzirisa nguva yekutora bvunzo dzeyunivhesiti, nezvimwe.

Ehe. Sezvo achromatopsia iri kuremadza genetic chirwere, prenatal kuongororwa inogona kupihwa kune vakaroorana vari panjodzi, kureva kune vakaroora umo vaviri vakaroorana vari vatakuri vekuchinja kwakabatana nechirwere ichi. Kana iri shanduko yakafanana, vane mukana we25% wekubereka mwana achromatic.

Panyaya ye monochromatism, amai chete ndivo vanogona kutapurira gene inoshaya kumwana wavo. Kana ari mukomana, anenge ari achromatic. Kana ari musikana, anenge ari mutakuri wekuchinja, saamai vake.