He māmā loa kou ʻili, kou lauoho, a me kou mau maka? Hiki paha ma muli o ka Oculocutaneous Albinism (OCA)?

Ua ʻike anei ʻoe i kekahi poʻe me ka ʻili keʻokeʻo a me ka lauoho, i kekahi manawa keʻokeʻo? He māmā ko lākou mau maka, e like me kekahi mai kahi ʻāina ʻē. Malia paha kekahi o kou ʻohana, he hoaaloha, a i ʻole kāu keiki ponoʻī paha i loaʻa kēia mau ʻano. Ma ke ʻano lapaʻau, kapa mākou i kēia ʻOculocutaneous Albinism (OCA). Mai makaʻu, ʻoiai inā kani iki ka inoa. He ʻano laha ʻole kēia, ʻo ia hoʻi, he ʻano laha ʻole loa, he ʻano genetic. I kēia lā, e kamaʻilio mākou e pili ana i ia mea ma ke ʻano maʻalahi loa, i hiki iā ʻoe ke hoʻomaopopo.

I kēia manawa, ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia albinism (OCA) a no ke aha e hana ai, ʻeā? I ka ʻōlelo maʻalahi, aia kekahi mea i loko o ko mākou kino e hāʻawi ana i ke kala i ko mākou ʻili, lauoho, a me nā maka, a ua kapa ʻia ʻo melanin. Ua like ia me ka pena. ʻO kēia melanin ka mea e hāʻawi ai i ko mākou ʻili, lauoho, a me nā maka i ko lākou kala kūikawā. No laila, ʻo ka mea e hana ʻia i ka poʻe me ka albinism, ʻaʻole hiki i ko lākou kino ke hana pono i kēia melanin a hoʻolaha paha iā ia ma ko lākou kino. E noʻonoʻo, i ka wā e emi iki ai ka pena, e lilo ia i māmā i ke kala. ʻO ia ke kumu e lilo ai ko lākou ʻili, lauoho, a me nā maka i māmā loa ma mua o ka mea i manaʻo ʻia. ʻAʻole wale kēia emi ʻana o ka melanin e hoʻopilikia i ke ʻano, akā he mea nui hoʻi kēia melanin no ko mākou mau maka e hana pono ai.

Hiki i kēia hoʻololi ʻana i ke ʻano ke lilo i mea hilahila iki no kekahi poʻe, a he mea maʻamau ke hilahila iki a hopohopo e pili ana i ka nānā ʻokoʻa ʻana i ke kaiāulu. Eia kekahi, hiki i nā hopena ma nā maka ke hoʻolilo iā ia i mea paʻakikī ke hana i nā hana o kēlā me kēia lā. Hiki ke hoʻonāukiuki maoli. Akā, ʻo ka mea maikaʻi loa, aia nā lāʻau lapaʻau e hiki ke kōkua i ka hōʻemi ʻana i nā hopena ma nā maka i kēia kūlana.

Pehea ʻoe e ʻike ai inā he albinism (OCA) kou? He aha nā hōʻailona?

Ma waho aʻe o nā hōʻailona āu e ʻike ai ma kēia kūlana o ka albinism (OCA), aia kekahi mau hōʻailona e hiki i ke kauka ke ʻike ma o nā hoʻokolohua kūikawā. E nānā kākou i ke ʻano o lākou.

Nā loli i ʻike ʻia ma ka ʻili a me ka lauoho

ʻO kēia ka hōʻailona maʻamau a maʻalahi hoʻi e ʻike ʻia o ka albinism (OCA).

• Nā loli lauoho: Hiki i ka poʻe me ka albinism (OCA) ke loaʻa ka lauoho keʻokeʻo a i ʻole he melemele māmā/gula. He mea maʻamau kēia i nā keiki ʻōpio. Eia nō naʻe, i ko lākou wā ʻelemakule, e like me ka wā kamaliʻi a i ʻole ka wā ʻōpio, e hoʻomaka paha ko lākou lauoho e loaʻa i kekahi kala. Hiki i nā maka maka, nā kuʻemaka, a me nā lauoho kino ʻē aʻe ke keʻokeʻo a māmā paha.
• Nā loli ʻili: Ma muli o ke ʻano o ka albinism (OCA) āu e loaʻa ai, hiki ke keʻokeʻo loa kou ʻili. Hiki ke māmā loa ka ʻili o kekahi poʻe a hiki ke ʻike ʻia he translucent, ʻo ia hoʻi he lahilahi loa ka ʻili a ʻike ʻia. ʻAʻole paha e ʻeleʻele kekahi i ka wā kamaliʻi, akā hiki ke hoʻololi iki i ke kala o ka ʻili i ko lākou wā ʻelemakule.

Nā hōʻailona a me ka ʻoluʻolu ʻole i ʻike ʻia ma nā maka

Hiki i ka Albinism (OCA) ke hana i nā loli i ʻike nui ʻia i ke kala o nā maka.

• Inā loaʻa iā ʻoe ka albinism (OCA), hiki i ka iris o kou mau maka ke lilo i kala uliuli māmā/hina māmā. I kekahi manawa, ke pā ka mālamalama i kou mau maka, hiki ke ʻike ʻia ka iris he poni a ʻulaʻula paha. Hiki ke loli kēia kala i kou ola a pau. Eia nō naʻe, hiki i kekahi mau ʻano albinism (OCA) ke hana i nā maka ʻeleʻele.

ʻO nā pilikia maka ʻē aʻe āu e ʻike ai:

• Nā pilikia ʻike: ʻIke pōwehiwehi, ʻike pālua, a ʻike haʻahaʻa paha.
• Photophobia: ʻO ke ʻano kēia he paʻakikī ke wehe i kou mau maka i ka lā a i ʻole nā ​​​​kukui ʻālohilohi, a lilo kou mau maka i polū.
• Nā loli i ke ʻano o ka hana pū ʻana o nā maka ʻelua: Nā kūlana e like me ka strabismus, kahi i kuhikuhi ʻole ai nā maka i ka ʻaoʻao like, a me ka paʻakikī i ka hoʻohui ʻana i nā mea a nā maka ʻelua e ʻike ai i hoʻokahi kiʻi (binocular vision dysfunction).
• Nā neʻe wikiwiki a kaohi ʻole ʻia o nā maka (Nystagmus): Hiki i kēia ke hoʻonāukiuki loa.
• ʻIke pōwehiwehi ma muli o nā loli i ke ʻano o ka maka (Nā hewa refractive): Ua like ia me nā hihia e pono ai nā aniani.

ʻO ka mea a ke kauka e ʻike ai i ka wā o ka hoʻokolokolo maka

Ke hele ʻoe i ke kauka maka, aia kekahi mau hōʻailona ʻē aʻe āna e nānā ai i ka wā o ka hoʻokolokolo ʻana:

• He lahilahi loa ke apo ʻeleʻele (iris) i loko o kou maka e hiki ai iā ʻoe ke ʻike i ka mālamalama e hele ana ma loko ke nānā ʻoe i kou mau maka.
• Aia paha he mau loli i ke ʻano o kou retina, hiki ke hoʻopilikia i ke ʻano o ka hana ʻana o kou maka.
• Aia kahi manawa kūpono kiʻekiʻe o nā loli i ke ʻano o ke aʻalolo optic, ka mea e hoʻopili ai i nā maka i ka lolo. Hiki i kēia ke hoʻopilikia i ke ʻano o ka hana ʻana o ka lolo i kāu mea e ʻike ai a pehea ʻoe e ʻike ai i ke ao nei.

Nā hōʻailona ʻē aʻe

ʻO kekahi mau ʻano albinism (OCA), a i ʻole nā ​​​​kūlana ʻē aʻe e hoʻoulu ai, hiki ke hana i nā hōʻailona a me nā hopena kikoʻī ʻē aʻe. ʻO kekahi mau laʻana:

• Nā kīnā noʻonoʻo
• Nā loli kiʻekiʻe
• Nā pilikia kaohi ʻiʻo a i ʻole nā ​​​​maʻi neʻe

Eia nō naʻe, ʻike ʻia nā hōʻailona ʻē aʻe e like me kēia ma ke ʻano kakaikahi loa o ka albinism (OCA). Hiki i kāu kauka ke aʻo maikaʻi iā ʻoe i nā hōʻailona āu (a i ʻole kahi keiki āu e mālama nei) e ʻike ai.

No ke aha e kū mai ai kēia albinism (OCA)?

Hoʻokumu ʻia ka Albinism (OCA) e kahi loli (mutation) i loko o kā mākou DNA, ʻo ia hoʻi kahi kīnā genetic e hoʻopilikia i ke ʻano o ka hana ʻana o ko mākou kino i ka melanin. No laila, he kūlana genetic ia. ʻElua ala e hiki ai ke hana:

• Hoʻoilina mai nā mākua: ʻO ka hapa pinepine, ʻo ka albinism (OCA) ke kumu o nā kīnā genetic (nā mutations) i hoʻoilina mai nā mākua. Hoʻoilina mau ʻia kēia mau mea ma ke ʻano autosomal recessive.I ka ʻōlelo maʻalahi, ʻo ia hoʻi, e loaʻa wale kēia maʻi i ke keiki inā loaʻa iā lākou ka gene kīnā mai ko lākou makuahine a me ko lākou makuakāne. ʻAʻole lawa ia inā loaʻa mai ia mai kekahi o nā mea ʻelua.
• Nā loli maʻamau e kū mai ana i ka wā o ka embryonic: I kekahi manawa, hiki ke loli maʻamau i nā genes i ka wā mua o ke ola o ka pēpē, ʻaʻole i hoʻoilina ʻia mai nā mākua. ʻAʻole maopopo i nā kauka ke kumu o kēia hana, a ʻaʻole hiki iā lākou ke wānana mua.

He aha nā pilikia ʻē aʻe e hiki ke hana ʻia e ka albinism (OCA)?

E like me kā mākou i kūkākūkā ai ma mua, he pigment pale ka melanin. Hana ko mākou kino iā ia e omo i ka radiation UV ʻino mai ka lā. ʻO ia ke kumu e ʻeleʻele pinepine ai ka poʻe me ka ʻole o ka albinism ke hele lākou i waho i ka lā. Hoʻopōʻino kēia radiation UV i ka DNA i loko o ko mākou mau ʻili. Hoʻonui kēia pōʻino i ka pilikia o ka maʻi ʻaʻai ʻili, ʻoiai ka basal cell carcinoma a me ka squamous cell carcinoma. Hoʻopili ʻia ka pōʻino mai ka radiation UV, no laila ʻo ka nui o ka pōʻino, ʻoi aku ka nui o ka pilikia o ka loaʻa ʻana o ka maʻi ʻaʻai. ʻOi aku ka liʻiliʻi o ka melanin o ka poʻe me ka albinism, no laila he mea nui e pale i ko lākou ʻili mai ka lā.

Pehea e ʻike pololei ai ke kauka i ka albinism (OCA)?

Hiki i ke kauka ke kānalua he OCA kou ke ʻike lākou i nā loli i kou ʻili, lauoho, a i ʻole nā ​​maka. Hoʻomaopopo pinepine ʻia i ka wā ʻōpiopio loa. ʻO nā kauka pediatric ka poʻe mua e kōkua i ka ʻike ʻana i ke kūlana. Hiki i nā kauka ke hoʻohana i kekahi mau ʻano hana e hōʻoia i ka OCA a hoʻoholo i ke ʻano kikoʻī.

ʻO kekahi o kēlā mau ʻano hana:

• Hoʻokolokolo kino
• Nā hoʻāʻo koko
• Hoʻokolohua maka
• Hoʻāʻo ʻana i ka genetics
• Hoʻāʻo ʻike maka i hoʻoulu ʻia (VEP)
• ʻO ka tomography coherence optical (OCT)

Aia kekahi lāʻau lapaʻau no ka albinism (OCA)?

ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka albinism (OCA). Eia nō naʻe, aia kekahi mau lāʻau lapaʻau e hiki ke kōkua i ka hōʻemi ʻana i ka ʻoluʻolu ʻole e pili ana i ke ʻano.

ʻO ke kumu nui no ka poʻe me ka albinism (OCA) ka mālama ʻana i nā kūlana maka e pili ana, me:

• Maka palaualelo (Amblyopia)
• Maka keʻa (Strabismus)
• Nā hewa refractive

E ʻōlelo paha kāu kauka maka e ʻaʻahu ʻoe i nā aniani maka a i ʻole nā ​​​​​​aniani kala e hōʻemi i ka photophobia a pale i kou mau maka mai ka lā.

Aia kekahi lāʻau lapaʻau i kapa ʻia ʻo nitisinone (nā inoa inoa ʻo Nityr® a i ʻole Orfadin®). Ua ʻike ʻia he kōkua ia no ka poʻe me ka oculocutaneous albinism type-1. Hana ʻo Nitisinone ma ke kāohi ʻana i ka haki ʻana o kahi waikawa amino koʻikoʻi i kapa ʻia ʻo tyrosine i loko o ko mākou kino. Ua hōʻike ʻia kahi noiʻi 2019 ua kōkua ʻo nitisinone i ʻelima mau pākeke me ka albinism type-1 e hoʻomohala i ka pigmentation ʻili a hoʻomaikaʻi i ka ʻike. Manaʻo pū kekahi nā kānaka noiʻi ʻo ka hoʻomaka ʻana i ka lāʻau lapaʻau i ka wā ʻōpiopio e ʻoi aku ka maikaʻi.

E hoʻomanaʻo, he nui nā kumu e pili ana i ke koho ʻana i nā koho lapaʻau, no laila ʻo kāu loea maka wale nō ke hāʻawi iā ʻoe i ka ʻike e pili ana i nā koho lapaʻau maikaʻi loa nāu (a me kāu keiki). ʻO ia kou alakaʻi.

He aha ke ʻano o ka noho ʻana me ka albinism (OCA)?

He maʻi ola ka Oculocutaneous albinism (OCA). Hiki ke ʻokoʻa nā hopena mai kēlā kanaka a kēia kanaka. ʻIke ka poʻe he nui i nā loli i ko lākou mau maka, lauoho, a me ka ʻili. ʻIke maopopo kekahi poʻe i kēia mau loli, a ʻo kekahi poʻe ʻaʻole paha e ʻike nui iā lākou.

He nui ka poʻe me ka albinism (OCA) e ʻike i nā pilikia olakino e pili ana i ke kūlana, ʻoiai nā pilikia maka. Eia nō naʻe, he mea kakaikahi nā pilikia e hoʻoweliweli ana i ke ola a i ʻole ka hoʻoweliweli ʻana i ke ola. ʻO ka mea nui loa, ʻo ia ka pale ʻana i ka hōʻino ʻana o ka ʻili mai ka lā a me nā kumu ʻē aʻe o ka radiation UV.

Inā ʻoe e hahai mau i nā ʻōlelo aʻo a kāu kauka a mālama i kou mau maka, hiki i ka hapa nui o ka poʻe me ka albinism (OCA) ke ola i kahi ola maʻamau e like me nā mea ʻē aʻe. ʻAʻole pili pinepine ke ʻano i kou ola, ʻoiai inā ʻoe e pale i nā pilikia e like me ka maʻi ʻili.

Hiki ke ʻike maʻalahi ʻia ka Albinism (OCA) e nā poʻe ʻē aʻe, a i ʻole he mea ia i ʻike ʻole ʻia. ʻO ka noho ʻana me kēia maʻi - inā paha e ʻike ʻia a ʻaʻole paha - hiki ke hele mai me nā pilikia. Eia nō naʻe, he mau pilikia kēia e hiki ai iā ʻoe ke ʻimi i ke kōkua. Inā loaʻa iā ʻoe a i ʻole kahi keiki āu e mālama nei nā hōʻailona o ka albinism (OCA), ʻoi aku ka maikaʻi o ke ʻike ʻana i ke kauka a i ʻole ka loea maka. Hiki iā lākou ke kōkua iā ʻoe e hoʻomaopopo i ke kūlana a kōkua iā ʻoe e ʻimi i nā lāʻau lapaʻau a me nā kumuwaiwai e hiki ke kōkua iā ʻoe.

ʻO nā mea nui a mākou e hoʻomanaʻo ai mai kēia moʻolelo, ʻo ia

ʻAe, eia kekahi mau mea e hoʻomanaʻo ai mai nā mea a mākou i kamaʻilio ai i kēia lā:

• He maʻi hoʻoilina ka Oculocutaneous albinism (OCA). He kīnā ia i ka hana ʻana a i ʻole ka hoʻolaha ʻana o ka melanin, ka pigment e hāʻawi i ke kala i ko mākou ʻili, ka lauoho, a me nā maka.
• He kūlana kēia no ke ola holoʻokoʻa, akā hiki ke hoʻokele ʻia nā pilikia e hele pū me ia.
• ʻO ka mea nui loa, ʻo ia ka pale ʻana i kou ʻili mai ka lā.Ma muli o ka emi ʻana o ka melanin, ʻo ia hoʻi ka nui o ka pilikia o ka maʻi ʻili, he mea nui loa ia e ʻaʻahu i nā aniani lā, nā pāpale, nā lole lōʻihi, a me kahi pale lā maikaʻi.
• Pono hoʻi ʻoe e makaʻala nui i kou mau maka. E ʻike pinepine i ke kauka maka no ka ʻōlelo aʻo.
• He mea maʻamau ke kaumaha a me ka hopohopo no kēia kūlana. Mai makaʻu e noi i ke kōkua mai ke kauka, ka ʻohana, a i ʻole kahi hoaaloha hilinaʻi.
• E hoʻomanaʻo, ʻoiai inā he albinism (OCA) kou, hiki iā ʻoe ke ola i kahi ola hauʻoli a holomua e like me nā poʻe ʻē aʻe!

Inā he mau nīnau hou aku kāu e pili ana i kēia, e kamaʻilio pono me ke kauka. Mai hopohopo, aia nā hopena no nā mea āpau.

ʻAlbinism , OCA, nā maʻi ʻili, nā maʻi maka, nā maʻi genetic, melanin, pale lā