ʻO Achromatopsia, i kapa ʻia hoʻi ʻo achromatia, he maʻi kakaikahi o ka maka e pale ai iā ʻoe mai ka ʻike ʻana i nā kala. He kumu genetic kona i ka hapanui o nā hihia, akā hiki ke hopena mai ka pōʻino o ka lolo. ʻIke nā poʻe maʻi i ka honua i ka ʻeleʻele a me ke keʻokeʻo.

ʻO ka Achromatopsia e pili ana i ka hiki ʻole o ke kanaka ke ʻike i nā kala. Nui nā ʻano:

Achromatopsia hānau piha

Ma muli o ka hoʻololi ʻana o ka genetic i hoʻokahi a ʻoi aku paha nā genes i komo i ka ʻike kala, ʻo ka retina e laina ana i ke kua o ka maka ʻaʻole i kapa ʻia ʻo "cone" photoreceptor cell e hoʻokaʻawale i nā kala a me nā kikoʻī i ka mālamalama. Ka hopena: ʻike nā poʻe maʻi i ke aka hina. 

Eia kekahi, he kiʻekiʻe ko lākou noʻonoʻo i ka mālamalama a me ka haʻahaʻa haʻahaʻa haʻahaʻa. ʻO kēia mau mea a pau mai ka hānau ʻana. Hoʻopili ʻia kēia makapō kala i nā genes recessive, pili wale ia i ka poʻe nona nā mākua ʻelua i lawe i ka mutation hoʻokahi a ua hoʻoili ʻia iā ia. ʻO kēia ke kumu o ka haʻahaʻa o ka laha ʻana, ʻo ke kauoha o 1 hihia no 30 a 000 hānau ma ka honua holoʻokoʻa;

Achromatopsia congenital hapa a piha ʻole paha

He genetic kekahi ʻano o kēia ʻano, akā, ʻaʻole like me ka mea mua, pili ia i ka hoʻololi ʻana i ka chromosome X a ʻaʻole pili ia i nā cones a pau o ka retina. Haʻalele ia i ka poʻe maʻalahi i ka uliuli. ʻO ia ke kumu i kapa ʻia ai kēia pathology "blue cone monochromatism". 

ʻAʻole ʻike ka poʻe maʻi i ka ʻulaʻula a me ka ʻōmaʻomaʻo, akā ʻike i ka uliuli. Ma muli o ka lawa ʻole o nā cones, ʻilihune loa ko lākou ʻike acuity a ʻaʻole hiki iā lākou ke ʻae i ka mālamalama. Ma muli o ka pili ʻana o ka achromatopsia piha ʻole i ka mutation recessive i hoʻopili ʻia i ka chromosome X, pili nui ia i nā keikikāne, hoʻokahi wale nō kope o kēia chromosome (ʻo kā lākou 23 o nā chromosome he X a me Y). No ka loaʻa ʻana o nā chromosomes X ʻelua i nā kaikamahine, pono lākou i hoʻoili i ka hoʻololi ʻana mai nā mākua ʻelua i achromats, ʻoi aku ka maʻalahi;

Cerebral achromatopsia 

ʻAʻole ia he kumu genetic. ʻIke ʻia ia ma hope o ka ʻeha lolo a i ʻole kahi pōʻino cerebrovascular (stroke) e pili ana i ka cortex ʻike. ʻO ka poʻe maʻi nona ka retina maʻamau a ʻike maikaʻi i nā kala a hiki i kēia manawa, nalowale kēia mākaukau a i ʻole he hapa. ʻAʻole hiki i ko lākou lolo ke hana hou i kēia ʻano ʻike.

ʻO ka achromatopsia congenital kahi maʻi genetic. Hiki ke komo i kekahi mau genes: 

• GNAT2 (chromosome 1) ;
• CNGA3 (chromosome 2) ;
• CNGB3 (chromosome 8) ;
• PDE6C (chromosome 10);
• PDE6H (chromosome 12);
• a, i ka hihia o ka blue cone monochromatism, OPN1LW a me OPN1MW (X chromosome). 

ʻOiai e hōʻike ana ka achromatopsia congenital iā ia iho mai ka hānau ʻana, aia kekahi mau hihia o ka achromatopsia i loaʻa. Ma muli o ka pōʻino o ka lolo: ʻeha a i ʻole ka hahau ʻana e pili ana i ka cortex ʻike.

I nā poʻe maʻi me ka hoʻololi ʻana i hoʻokahi a ʻoi aku paha o kēia mau genes, nele ka retina i nā cones e ʻae iā mākou e ʻike i nā kala a me nā kikoʻī. Loaʻa iā lākou nā pūnaewele i loko o nā "koʻokoʻo", kuleana no ka ʻike ʻana i ka pō, i ke aka hina.

Hōʻike ʻia ka achromatopsia congenital e:

• 'ikepō makapō : He huina keia i na achromats piha, nana i ike i ke ao nei i ka eleele a me ke keokeo, a i ole aneane huina i loko o ka monochromats, ka poe i malama i ka uliuli;
• photophobia nui, 'o ia ho'i, hypersensitivity i ka malamalama;
• hōʻemi i ka ʻike maka, ma waena o 1/10 a me 2/10;
• un nui aku, 'o ia ho'i, he oscillation involuntary, jerky oscillation o ka maka maka, oi loa aku ma ke alo o ka malamalama malamalama. Hiki ke nalowale kēia hōʻailona me ka makahiki;
• he petit scotome waena, ʻo ia hoʻi, hoʻokahi a ʻoi aku paha nā kiko liʻiliʻi i waenakonu o ke kahua ʻike.

Aia kēia hemahema mai ka wā ʻōpiopio, akā ʻo ka pale ʻana i ka mālamalama a me ka neʻe ʻana o nā maka o kā lākou pēpē ka mea e makaʻala mua i nā mākua, ʻoiai inā he mau hihia ʻē aʻe i loko o ka ʻohana. Ke hiki i ke keiki ke hōʻike iā ia iho, hiki ke hoʻokō ʻia kahi hoʻāʻo kala akā ʻaʻole lawa, no ka mea, hiki i kekahi mau monochromats ke hoʻololi, a hiki i ka hiki ke kapa i kekahi mau kala. ʻO kahi electroretinogram (ERG) wale nō, e ana i ka hana uila o nā photoreceptors i loko o ka retina, hiki ke hōʻoia i ka maʻi. A laila e hiki ai ke hoʻomaopopo i ka mutation i nīnau ʻia.

ʻO ka congenital achromatopsia kahi maʻi paʻa. Eia naʻe, hiki ke ʻike ʻia ka degeneration holomua o ka macula, ʻo ia hoʻi, ka wahi i waenakonu o ka retina, i kekahi mau maʻi, ʻoi aku ka nui o ko lākou ʻelemakule. 

ʻO ka cerebral achromatopsia ka nalowale koke o ka ʻike maka ma hope o ka ʻeha poʻo a i ʻole ka hahau ʻana. 

ʻAʻohe lāʻau lapaʻau no kēia pathology i kēia manawa, ʻo nā hopena wale nō e hōʻoluʻolu i nā hōʻailona. Hiki ke hoʻomaikaʻi ʻia ka pale ʻana i ka māmā a me ka noʻonoʻo ʻana i nā ʻokoʻa ma ke komo ʻana i nā aniani a i ʻole nā ​​​​lens pili i ʻulaʻula a ʻulaʻula paha, i kapa ʻia ʻo "chromogenic". Hiki ke maʻalahi ka heluhelu ʻana i nā aniani hoʻonui me ka hoʻonui kiʻekiʻe. Aia kekahi mau mea kōkua ʻē aʻe e hoʻoikaika i ka mana kūʻokoʻa o ka mea maʻi: hoʻomaʻamaʻa i ka locomotion, hoʻololi i ka manawa e lawe i nā hoʻokolohua kulanui, etc.

Ae. No ka mea he maʻi hoʻopalekana ʻole ka achromatopsia, hiki ke hāʻawi ʻia ka maʻi prenatal i nā kāne i ka pilikia, ʻo ia hoʻi i nā kāne i lawe nā hoa ʻelua i nā mutations pili i kēia pathology. Inā like ka hoʻololi ʻana, loaʻa iā lākou he 25% manawa e hānau ai i kahi keiki achromatic.

I ka hihia o ka monochromatism, hiki i ka makuahine wale nō ke hoʻouna i ke ʻano hemahema i kāna mau keiki. Inā he keikikāne, he achromatic ia. Inā he kaikamahine, he mea lawe ia i ka mutation, e like me kona makuahine.