Ke hopohopo nei ʻoe no ka ʻike maka o kāu keiki liʻiliʻi? E aʻo kākou e pili ana i ka Leber's Congenital Amaurosis (LCA)?

Ke nānā ʻoe i nā maka o kāu pēpē liʻiliʻi, e noʻonoʻo paha ʻoe i kekahi manawa inā ʻike pono ʻo ia i nā mea a i ʻole he hewa paha kekahi mea me kona ʻike. ʻOi loa aku hoʻi no ka mea ua hānau ʻia kekahi mau pēpē me kekahi mau hemahema o ka ʻike. Ua kapa ʻia kēia maʻi kakaʻikahi akā koʻikoʻi ʻo Leber congenital amaurosis. E kamaʻilio kākou e pili ana i ia mea me nā kikoʻī, ea?

He aha ka Leber congenital amaurosis (LCA)?

I ka ʻōlelo maʻalahi, ʻo Leber congenital amaurosis, a i ʻole LCA no ka pōkole, he maʻi kakaikahi loa ia. Hoʻopilikia ia i ka retina, ka papa o loko o ka maka, i nā pēpē. E noʻonoʻo i ka retina e like me ke kiʻiʻoniʻoni i loko o kahi kāmela. Hoʻopaʻa ʻia nā mea a mākou e ʻike nei ma ʻaneʻi ma ke ʻano he kiʻi. Loaʻa i ka retina nā cell kūikawā loa, a mākou e kapa nei he photoreceptors . ʻElua ʻano o nā cell, nā rods a me nā cones . Kōkua nā rods iā mākou e ʻike i ka pō a me ka pōʻeleʻele. Kōkua nā cones iā mākou e ʻike i nā kala a ʻike maopopo i ke ao.

ʻO ka mea e hana ʻia i kahi pēpē me ka `(LCA)` ʻo ia ka hana pono ʻole o nā pūnaewele `(rods)` a me `(cones)`. ʻO ia hoʻi, ʻaʻole hiki i kēia mau pūnaewele ke hoʻouna pono i ke kukui e komo ana i ka maka ma ke ʻano he hōʻailona uila i ka lolo. I ka emi ʻana o kēia hana uila, emi pū ka ʻike o ka pēpē. I kekahi manawa, inā ʻaʻohe hana uila, ʻaʻole hiki i ka pēpē ke ʻike.

He maʻi hānau ʻia kēia, ʻo ia hoʻi, ua hānau ʻia nā pēpē me ia. Wahi a nā kauka , hoʻomaka ka ʻike o ka pēpē e emi mālie ma kahi o 6 mahina . No laila, inā ʻike ʻoe i kekahi mau loli i nā maka o kāu pēpē, a inā manaʻo ʻoe ʻaʻole hiki iā lākou ke ʻike i nā mea, ʻoi aku ka maikaʻi o ka ʻike ʻana i kahi loea maka i ka hikiwawe loa.

Pehea ka maʻamau o kēia kūlana (LCA)?

I kēia manawa, ke noʻonoʻo nei paha ʻoe i ka maʻamau o kēia ʻano. He mea kākaʻikahi loa ia. Ua hōʻike ʻia e loaʻa wale ana i ʻelua pēpē no 100,000. He helu haʻahaʻa loa ia. Eia naʻe, ʻoiai he mea kākaʻikahi, ua ʻike ʻia ʻo ia kekahi o nā kumu nui o ka makapō i nā keiki ʻōpio. No laila, ʻoiai he mea kākaʻikahi ia, he mea nui e makaʻala i kēia.

He aha nā hōʻailona o kahi pēpē me (LCA)?

I kekahi manawa, he mea paʻakikī i nā mākua ke ʻike he pilikia ʻike ko kahi pēpē liʻiliʻi. No ka mea, ʻaʻole lākou e ʻōlelo. Eia nō naʻe, he ʻike maikaʻi ʻole ko ke keiki me ka `(LCA)`, a i kekahi manawa ʻaʻohe ʻike iki. ʻOiai ua pili kēia ʻano i nā pēpē ma lalo o hoʻokahi makahiki, aia kekahi mau hōʻailona e hiki ke kōkua iā ʻoe e ʻike.

ʻO kekahi o nā hōʻailona mua āu e ʻike ai, ʻo ia ka hamo mau ʻana o kāu pēpē i ko lākou mau maka, me he mea lā e hoʻopilikia ana kekahi mea iā lākou. Loaʻa paha iā lākou ka photophobia (ka hoʻowahāwahā ʻana i ka mālamalama) . ʻO ke ʻano kēia, hiki iā lākou ke ʻū a uē paha ke ʻike lākou i ke kukui a i ʻole e hele i kahi mālamalama. ʻO kekahi mea ʻē aʻe, ʻo ia paha ʻoe e ʻike i ka maka o kāu pēpē.Neʻe wikiwiki nā maka i mua a i mua me he mea lā ʻaʻole hiki iā lākou ke hoʻopaʻa i ko lākou nānā ʻana ma kahi hoʻokahi (nystagmus). Me he mea lā e haʻalulu ana lākou.

Hiki nō hoʻi iā ʻoe ke ʻike i kēia mau hiʻohiʻona:

• ʻO Keratoconus kahi kūlana e loli ai ke ʻano o ka cornea o ka maka, e lilo i ʻano cone. He mea paʻakikī iki kēia, a ʻo ke kauka wale nō ke haʻi pololei iā ʻoe.
• ʻIke mamao (hyperopia).
• ʻO ke ʻano o ka pane ʻana o ka maka i ka mālamalama, he liʻiliʻi loa paha ia, a ʻaʻole loa paha. ʻIke ʻoe, ʻo ka maʻamau ke hele ʻoe mai kahi mālamalama a i kahi pouli, e nui aʻe ana ka maka o ka maka. ʻAʻole pēlā ka hana.

Inā ʻike ʻoe i kekahi mea e like me kēia, mai hopohopo a e ʻike i ke kauka. E haʻi pololei lākou iā ʻoe i ka mea e hana nei.

No ke aha lā e kū mai ai kēia kūlana (LCA)?

I kēia manawa, e nānā kākou i ke kumu o kēia `(LCA)`. ʻO ke kumu nui o kēia, ʻo ia nā loli genetic, ʻo ia hoʻi `(genetic mutations)` . Ua ʻike ʻoe ua hoʻoholo ʻia ko kākou mau ʻano āpau e nā genes (`genes`) a kākou e loaʻa ai mai ko kākou makuahine a me ko kākou makuakāne. ʻO kēia mau genes nā ʻāpana liʻiliʻi o kā kākou `DNA` . No laila, i ka wā e hānau ʻia ai kahi pēpē, inā he loli a kīnā paha i nā genes i loko o ka hua manu o ka makuahine (`egg`) a me ka sperm o ka makuakāne (`sperm`), hiki nō hoʻi ke hoʻoili ʻia i ka pēpē.

Ua ʻike ʻia ma kahi o 30 mau hoʻololi ʻano like ʻole o nā genes e hiki ai ke hoʻoulu i kēia ʻano, ʻo ia hoʻi, ʻo nā hoʻololi ʻana i nā genes e kōkua ana i ka retina e ulu a ulu. No ka inoa ʻana i kekahi mau mea, ʻo nā genes e like me `(CEP290)`, `(CRB1)`, `(GUCY2D)`, `(RPE65)` kekahi o lākou.

ʻO ka hapa nui o ka manawa, ʻo `(LCA)` he ʻano `autosomal recessive` . Ua ʻike anei ʻoe i ke ʻano o ia mea? ʻO ia hoʻi, e loaʻa wale i ka pēpē kēia maʻi inā loaʻa i nā mākua ʻelua ka gene kīnā (`altered gene`). Pono nā mea lawe ʻelua. Eia naʻe, ʻaʻole pono lāua ʻelua e loaʻa nā hōʻailona. Hiki iā lāua ke olakino, akā hiki iā lāua ke loaʻa ka gene kīnā i loko o ko lāua kino. Inā hana ʻia kēlā, aia ma kahi o 25% ka pilikia e loaʻa i kahi keiki i hānau ʻia iā lāua kēia ʻano.

E noʻonoʻo, inā he mau mea lawe kēia gene kīnā nā mākua ʻelua, i kēlā me kēia o kā lāua hāpai ʻana, he 1/4 ka manawa kūpono o ke keiki e loaʻa ai ka LCA, he 1/2 ka manawa kūpono o ke keiki e lilo i mea lawe, a he 1/4 ka manawa kūpono o ka hānau ʻana o ke keiki me ka ʻole o ka hoʻopilikia ʻia.

ʻAʻole ʻike ka nui o ka poʻe he ʻano autosomal recessive ko lākou no ka mea ʻaʻohe o lākou mau hōʻailona. Inā he lālā ʻohana kou me kahi maʻi genetic, a inā hopohopo ʻoe e loaʻa paha i kāu mau keiki kahi maʻi genetic, he mea nui e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i ka genetic .

Pehea e ʻike ai nā kauka i kēia maʻi (LCA)?

I mea e ʻike pono ai inā loaʻa i kāu pēpē ka `(LCA)` a i ʻole, pono ʻoe e ʻike i kahi kauka maka. E nānā pono mua ʻo ia i nā maka o ke pēpē, me ka `retina` i loko o ka maka. A laila, `electroretinography (ERG)`Ke ana nei kēia hoʻāʻo i ka hana uila i loko o ka retina o ka pēpē. E hoʻomanaʻo, ua kamaʻilio mua mākou e pili ana i ke koʻikoʻi o kēia hana uila no ka ʻike. I kekahi manawa hiki ke hana ʻia kahi scan i kapa ʻia ʻo `optical coherence tomography (OCT)` . Hiki i kēia ke kiʻi i kahi kiʻi maopopo o nā papa i loko o ka maka.

E hōʻoia pū ke kauka ʻaʻohe kūlana ʻē aʻe e hiki ke hoʻopilikia i nā maka o ka pēpē. Kāhea mākou i kēia ʻo 'diagnosis differential' . No ka mea, aia kekahi mau kumu ʻē aʻe e hiki ke hoʻopilikia i ka ʻike. Eia kekahi laʻana:

• ʻO ka 'Retinitis pigmentosa' (he ʻano maʻi kēia e hoʻopilikia ai i ka retina)
• ʻO ka maʻi Joubert
• ʻO ka maʻi Zellweger
• Makapō kala (`achromatopsia`)
• Ka lihilihi ʻana o ka maka (ptosis)

Ma hope wale nō o ka nānā ʻana i kēia mau mea a pau e hiki ai i ke kauka ke hoʻoholo pololei he `(LCA)` ia.

He aha nā lāʻau lapaʻau no (LCA)?

ʻOiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ke ʻano `(LCA)` i kēia manawa . Akā, mai hopohopo. Hoʻāʻo nā kauka e hoʻomaikaʻi i kekahi o ka ʻike o ka pēpē a kōkua iā ia e ola maikaʻi loa. Hana pinepine ʻia kēia me ka hoʻohana ʻana i nā aniani maka . Aia kekahi mau mea e like me nā `aniani hoʻonui` a i ʻole nā ​​`prisms heluhelu` e hiki ke kōkua i ka poʻe me ka ʻike haʻahaʻa.

E aʻo pū kākou e pili ana i ka lāʻau lapaʻau gene.

He mea hou iki kēia. I ka makahiki 2017, ua ʻāpono ka US Food and Drug Administration (FDA) i ka lāʻau lapaʻau gene mua e mālama i ke kūlana (LCA). He mea hoʻohiki maoli kēia. Eia nō naʻe, ua ʻāpono wale ʻia kēia lāʻau lapaʻau no ka poʻe nona ka (LCA) i hoʻokumu ʻia e kahi mutation i loko o ka gene i kapa ʻia ʻo RPE65 .

I ka ʻōlelo maʻalahi, ʻo ka hoʻōla ʻana i nā genes ke kaʻina hana o ka hoʻololi ʻana i kahi gene e hoʻoulu ai i kahi maʻi me kahi gene olakino. A i ʻole, e hoʻopau ana i kahi gene e hoʻoulu ai i ka maʻi. ʻO ka manaʻolana e hoʻokomo i kahi gene olakino i loko o nā cell a hoʻohuli i ka maʻi. ʻOiai he lāʻau lapaʻau kēia e pili ana i ka noiʻi, hiki ke lilo i hopena maikaʻi no nā kūlana e like me `(LCA)` i ka wā e hiki mai ana.

E haʻi aku ke kauka maka iā ʻoe inā kūpono kēia lāʻau lapaʻau gene no kāu pēpē a ʻaʻole paha.

Hiki ke pale ʻia ka LCA?

ʻOiaʻiʻo, inā loaʻa i kahi pēpē kahi hoʻololi genetic e hoʻoulu ai i ka `(LCA)`, ʻaʻohe ala e pale aku ai. ʻAʻole ia he mea hiki iā mākou ke kaohi. Eia naʻe, e like me kaʻu i ʻōlelo ai ma mua, inā he kānalua a hopohopo paha kāu e pili ana i nā maʻi genetic, ʻoi aku ka maikaʻi o ka loaʻa ʻana o ka ʻōlelo aʻoaʻo genetic ma mua o ka loaʻa ʻana o kahi keiki a i ʻole i ka wā hāpai. A laila hiki iā ʻoe ke loaʻa kahi ʻike maopopo o nā pilikia.

He aha kaʻu e manaʻo ai inā loaʻa i kaʻu pēpē (LCA)?

He mea maʻamau ke kaumaha a me ka makaʻu loa ke ʻike ʻoe ua loaʻa i kāu pēpē ka `(LCA)`. Nui nā pēpē me ka `(LCA)` e nalowale loa paha ko lākou ʻike a i ʻole e emi nui ana. He ʻoiaʻiʻo kēlā.

Akā, ʻaʻole ia manaʻo ʻaʻole e ola kāu keiki i kahi ola hauʻoli a olakino. Pono kāu pēpē i nā hoʻokolohua maka maʻamau e nānā i nā loli i ko lākou mau maka a i ʻole e ʻike inā e ʻino ana ko lākou ʻike. E haʻi aku kāu kauka iā ʻoe i ka pinepine o kāu hana ʻana i kēia mau hoʻokolohua.

ʻO ka mea nui loa, ʻo ia ke hāʻawi i kāu keiki i ke kākoʻo a me ke aloha e pono ai lākou. He kuleana nui kāu e pāʻani ai i ke aʻo ʻana iā lākou e noho me ka ʻike haʻahaʻa a me ka hoʻoikaika ʻana iā lākou. Eia kekahi, e nānā i nā ʻoihana a me nā kula e kōkua ana i kēlā mau keiki. He kōkua nui ia i ka hoʻokō ʻana i ko lākou wā e hiki mai ana.

Āhea wau e ʻike ai i ke kauka?

E hoʻomanaʻo hou aku wau iā ʻoe: Inā ʻike ʻoe i kekahi mea ʻē i nā maka o kāu pēpē, a inā manaʻo ʻoe ʻaʻole hiki iā ia ke ʻike, e ʻike koke i kahi kauka maka.

Inā ʻike mua ʻoe ua loaʻa i kāu pēpē kahi maʻi (LCA), a ʻike ʻoe i kahi loli i kona ʻike a i ʻole ka ʻino ʻana o nā hōʻailona, ​​e ʻike koke i ke kauka.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

Ke hele mākou e ʻike i ke kauka, i kekahi manawa poina iā mākou ka mea a mākou e makemake ai e nīnau. No laila, eia kekahi mau nīnau e kōkua paha iā ʻoe:

• Loaʻa maoli anei i kaʻu pēpē ka `Leber's congenital amaurosis (LCA)`?
• He aha ka hoʻololi ʻana o ka genetic i hoʻokumu i kēia? (Inā hiki ke ʻike ʻia)
• He aha nā hoʻokolohua ʻē aʻe e pono ai iaʻu no kaʻu pēpē?
• Pehea ka paʻakikī o kona nalowale ʻana o kona mau maka?
• He kūpono anei kaʻu pēpē no ka gene therapy?

He mea nui loa iā ʻoe ke lohe a ʻike i nā mea e like me kēia.

Aia kekahi pilina ma waena o LCA a me ka Autism Spectrum Disorder?

He pilikia nō hoʻi kēia no kekahi mau mākua. ʻO ka `(LCA)` a me ka ``Autism Spectrum Disorder (ASD)` ʻelua mau kūlana e hoʻopilikia i ka ulu ʻana o ke keiki. Hoʻopilikia ka ``LCA)` i ka retina o nā maka, ʻo ka ``ASD)` he ``neurodevelopmental disorder``.

Ua ʻike ʻia kekahi mau noiʻi aia kahi pilina ma waena o nā keiki me LCA a me ASD. Eia naʻe, ʻaʻole kēia manaʻo e loaʻa i kēlā me kēia keiki me LCA ka ASD. Inā makemake ʻoe e ʻike hou aʻe e pili ana i kēia, ʻoi aku ka maikaʻi o ke kamaʻilio ʻana me kāu kauka.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

ʻAe, no laila e haʻi aku wau iā ʻoe i kekahi o nā mea nui a mākou i kamaʻilio ai e kōkua iā ʻoe e hoʻomanaʻo iā lākou.

ʻO ka amaurosis congenital a Leber (LCA) kahi maʻi genetic laha ʻole e hiki ai ke pohō ka ʻike i nā pēpē no ka mea ʻaʻole hana pono nā cell i loko o ko lākou retina.

Inā ua ʻike ʻia kāu pēpē me (LCA), e nalowale paha kona ʻike. Akā, ʻaʻole ia manaʻo ʻaʻole hiki iā ia ke ola i kahi ola hauʻoli a olakino.

Ma muli kēia o nā loli genetic. Inā he mau hopohopo a kānalua paha kāu e pili ana i kēia, he mea nui loa ia e ʻimi i ke aʻoaʻo genetic.

ʻO ka mea nui loa, ʻo ia ke ʻike koke aku i ke kauka maka ke ʻike ʻoe i kekahi loli i nā maka o kāu pēpē.A laila hiki iā ʻoe ke loaʻa koke i ka lāʻau lapaʻau a me ke kākoʻo e pono ai. E wehewehe kāu kauka i nā mea āpau iā ʻoe, me ka pinepine o ka pono o kāu pēpē i nā hoʻokolohua maka a me nā mea hiki iā ʻoe ke hana e pale i ko lākou ʻike.

E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia nā kauka, nā kākāʻōlelo, a me nā hui kākoʻo e kōkua iā ʻoe ma kēia huakaʻi.

ʻO Leiber congenital amaurosis, LCA, makapō pēpē, retina, nā hoʻololi genetic, nalowale o ka ʻike, nā maʻi maka