Ke pilikia nei ʻoe a i ʻole kāu keiki i ka ʻike maka? E aʻo e pili ana i ka maʻi Stargardt!

Loaʻa iā ʻoe a i ʻole kāu keiki kahi pilikia kahi hiki ʻole iā ʻoe ke ʻike pololei i nā mea i mua, a i ʻole ke lilo nei kou ʻike i mea pōuliuli? Malia paha hiki iā ʻoe ke ʻike i nā mea a puni ʻoe, akā ʻaʻole maopopo ka mea āu e nānā nei. Inā loaʻa iā ʻoe nā hōʻailona e like me kēia, ʻo kekahi kumu paha he maʻi i kapa ʻia ʻo Stargardt Disease . E kamaʻilio kākou e pili ana i kēia ma ke ʻano maʻalahi e hiki ai iā ʻoe ke hoʻomaopopo.

He aha ka maʻi Stargardt?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Stargardt kahi maʻi e hoʻopilikia ai i ka ʻāpana koʻikoʻi o ko kākou mau maka , ʻo ia ka `macula` . E noʻonoʻo i kēia ʻano: inā like kou maka me ke kāmela, ʻo ka `retina` ka membrane ma ke kua o ke kāmela, e like me ke kiʻiʻoniʻoni, kahi e hoʻopaʻa ʻia ai nā kiʻi. ʻO ka `macula` kahi wahi liʻiliʻi koʻikoʻi loa ma waenakonu o ka `retina`. Ke nānā pololei mākou i mua, ke heluhelu mākou i kahi puke, ke nānā mākou i ka maka o kekahi, ʻo ia ka `macula` e kōkua iā mākou e ʻike maopopo i nā mea. Kāhea mākou i kēia ʻo `kikowaena ʻike` .

Ke loaʻa iā ʻoe ka maʻi Stargardt, e emi mālie ana kou "ʻike waena" i ka hala ʻana o ka manawa. I kekahi manawa, hiki i kēia ke hoʻopilikia i kāu "ʻike peripheral", ʻo ia hoʻi ka hiki ke ʻike i nā mea a puni kou mau maka.

Ua lohe paha ʻoe i ka macular degeneration . He maʻi ia e hoʻopilikia pinepine ai i ka poʻe ʻelemakule, ʻoiai ka poʻe ma luna o 60. Ua kapa ʻia ʻo ia he age-related macular degeneration . Eia naʻe, ʻokoʻa ka maʻi Stargardt. Hoʻopilikia pinepine ia i nā keiki a me nā ʻōpio ma lalo o 20. ʻO ia ke kumu i kapa ʻia ai e nā kauka he juvenile macular degeneration . Ke hoʻopilikia ia i nā kihi o ka retina, ua kapa ʻia ʻo ia he fundus flavimaculatus .

I kēia manawa, e nānā kākou i ke kumu o kēia. Loaʻa i ko kākou kino kahi mea melemele a ʻaila i kapa ʻia ʻo `lipofuscin` . ʻO ka maʻamau, hoʻokuʻu ʻia kēia mai ke kino. Eia nō naʻe, i loko o ke kanaka me ka maʻi Stargardt, hana nui ʻia kēia `lipofuscin` a ʻaʻole hoʻi i hoʻokuʻu pono ʻia. A laila hōʻiliʻili kēia `lipofuscin` keu i loko o ka `retina`. Hoʻopilikia kēia i nā ` photoreceptors`, kahi ʻano kūikawā o ke keena ʻike mālamalama i loko o ka `retina` . I ka hala ʻana o ka manawa, hoʻopilikia kēia pōʻino i ka nalowale mau o ka ʻike.

He aha nā hōʻailona o ka maʻi Stargardt?

Hiki i ka maʻi Stargardt ke hoʻololi i kou mau maka a me kou ʻike:

• Ke ʻike ʻana i nā kiko ʻeleʻele a i ʻole nā ​​​​wahi blurry i ka ʻike:Ke nānā pololei ʻoe i mua, ʻike ʻia paha kekahi mau wahi he ʻeleʻele a noe paha.
• ʻIke pōwehiwehi : ʻIke maopopo i nā mea, ʻike pōwehiwehi.
• ʻIke i ka mālamalama: Manaʻo o ka paʻakikī i ka ʻike ʻana i ka lā a i ʻole nā ​​​​kukui ʻālohilohi.
• Makapo kala hou: ʻOiai ua ʻike maopopo ʻoe i nā kala ma mua, ʻaʻole hiki iā ʻoe ke hoʻokaʻawale pono i kekahi mau kala.
• Paʻakikī ke hoʻololi i ke kukui haʻahaʻa/kiʻekiʻe: Ke hele koke mai kahi mālamalama a i kahi pouli, a i ʻole ke hele mai mai kahi pouli a i kahi mālamalama, lōʻihi ka manawa no nā maka e hoʻomaʻamaʻa.
• ʻIke maka pō maikaʻi ʻole : Ua emi ka ʻike maka pō ma mua.

ʻO ka mea nui, ʻo ia ka ulu mālie ʻana o nā hōʻailona o ka maʻi Stargardt. I ka hala ʻana o ka manawa, e nalowale paha ʻoe i ka ʻike waena āpau. Eia nō naʻe, hiki nō iā ʻoe ke ʻike i kahi mamao mai nā ʻaoʻao o kou mau maka (ʻike peripheral). Eia naʻe, ʻo nā mea i pololei i mua e lilo i mea ʻaʻole maopopo loa.

He aha nā kumu o ka maʻi Stargardt?

He "kūlana hoʻoilina" ka maʻi Stargardt. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi loli i loko o kā mākou mau genes. ʻO ke kumu nui, ʻo ia ka loli o kahi gene i kapa ʻia ʻo "gene ABCA4." Kōkua kēia "gene ABCA4" i kā mākou " retina" e hana pono.

He 'hoʻoilina' kēia. ʻO ia hoʻi, ua hoʻoili ʻia mai nā mākua a i nā keiki. Hoʻoilina ʻia ka maʻi Stargardt ma ke ʻano 'autosomal recessive pattern' . I ka ʻōlelo maʻalahi, no ke keiki e loaʻa ai kēia maʻi, pono i ka makuahine a me ka makuakāne ke loaʻa kēia 'gene ABCA4' i hoʻololi ʻia. ʻAʻole lawa no hoʻokahi kanaka wale nō e loaʻa.

Pehea e ʻike ai nā kauka i kēia? (Diagnosis)

Hiki i ke kauka maka ke hoʻoholo inā loaʻa iā ʻoe kēia maʻi. E nānā ʻo ia i kou mau maka , e nānā i kou ʻike, a e nānā i ke olakino o kou mau maka. Pono ʻoe e haʻi i ke kauka i ka wā i hoʻomaka ai kāu mau hōʻailona a me nā pilikia āu e loaʻa nei.

Pono paha ʻoe e hana i kekahi mau hoʻokolohua e like me kēia:

• Electroretinography (ERG): Nānā kēia i ke ʻano o ka pane ʻana o kou retina i ka mālamalama e komo ana i kou maka.
• ʻO ka angiography Fluorescein: He hoʻāʻo kēia e ʻike i nā kīʻaha koko i loko o ka maka.E nānā, hoʻokomo lākou i kahi waihoʻoluʻu kūikawā i loko o kahi aa koko ma kou lima a lawe i nā kiʻi o loko o kou maka.
• Kiʻi paʻi kiʻi fundus a me ke kiʻi paʻi autofluorescent fundus: Lawe kēia i nā kiʻi maopopo o kou retina a me ka macula. Hiki iā ʻoe ke ʻike pehea i waiho ʻia ai ka lipofuscin.
• Ka hoʻāʻo ʻana i ka genetics : Hiki i kēia ke hōʻoia inā he mutation i loko o ka gene ABCA4.
• ʻO ka tomography coherence optical (OCT): Ua like kēia me ke scan o ka retina. Hiki iā ia ke nānā i nā mea e like me ka mānoanoa o nā papa o ka retina, inā paha he lipofuscin, a inā ua hōʻino ʻia.

He aha nā pae o ka maʻi Stargardt?

Hiki i kāu kauka maka ke hoʻokaʻawale i ka maʻi i kekahi mau pae, ma muli o ke ʻano o kona holomua ʻana. Eia ke ʻano:

• Pae 1: I kēia pae, hoʻomaka kahi mea melemele i kapa ʻia ʻo lipofuscin e hana ma ke ʻano he mau ʻāpana liʻiliʻi ma ka macula. Loaʻa paha iā ʻoe nā hōʻailona liʻiliʻi loa, a ʻaʻohe hōʻailona iki.
• Pae 2: I kēia manawa, ua pālahalaha kēlā mau kiko `lipofuscin` i nā wahi ʻē aʻe o ka `retina` a puni ka `macula.` I kēia manawa, ke hoʻomaka nei paha ʻoe e ʻike i nā hōʻailona me ka maopopo iki ma mua.
• Pae 3: Ma kēia pae, hoʻomaka hou nā ʻāpana `lipofuscin` i hōʻiliʻili ʻia i loko o ka `macula` a hoʻomaka e hōʻino i ka `macula`. Ua kapa ʻia kēia ʻo `atrophy` ( make o nā cell). Hoʻonui kēia i nā hōʻailona.
• Pae 4: Ua koʻikoʻi loa ka pōʻino (atrophy) i ka macula. Hiki i kēia ke alakaʻi i ka nalowale piha a hapa paha o kou ʻike waena.

He aha nā lāʻau lapaʻau no ka maʻi Stargardt?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Stargardt i kēia manawa a i ʻole kekahi lāʻau lapaʻau e hiki ke hoʻohuli i ka pōʻino i hana ʻia. Akā , mai hopohopo. Hiki i kāu kauka maka ke kōkua iā ʻoe e hoʻokele i kāu mau hōʻailona a hoʻolohi i ka wikiwiki o ka nalowale ʻana o ka ʻike. Hiki iā ʻoe ke hana i nā mea e like me:

• E pale i ka lawe ʻana i nā mea hoʻohui i loaʻa ka wikamina A. Ua hōʻike kekahi mau noiʻi e hiki i ka poʻe me ka maʻi Stargardt ke ʻike i ka nalowale wikiwiki o ka ʻike inā lawe lākou i ka nui o ka wikamina A. No laila, mai lawe i nā mea hoʻohui wikamina A me ka ʻole o ke kamaʻilio ʻana me kāu kauka.
• ʻO ka hoʻohana ʻana i nā aniani maka, nā aniani hoʻopili a me/a i ʻole nā ​​​​mea kōkua ʻike haʻahaʻa hiki ke kōkua nui iā ʻoe me kāu mau hana o kēlā me kēia lā.
• E hoʻōki loa i ka puhipaka (a me nā huahana ʻē aʻe i loaʻa ka nikotine e like me ka vaping). ʻAʻole maikaʻi iki ka puhipaka no kou mau maka.
• E komo i ka pāpale a i ʻole nā ​​​​maka aniani maikaʻi e pale i kou mau maka ke hele ʻoe i waho.

E hoʻomanaʻo, ʻaʻole kēia he mau lāʻau lapaʻau. Eia nō naʻe, hiki iā lākou ke kōkua iā ʻoe e ola maikaʻi no ka lōʻihi e like me ka hiki.

Hiki ke ho'ōla ʻia ka maʻi Stargardt?

ʻAʻohe lāʻau lapaʻau no ka maʻi Stargardt i kēia manawa. Eia nō naʻe, hiki i kāu kauka maka ke kōkua iā ʻoe e ola me ke ʻano.

He nūhou maikaʻi kēia. Ke hoʻomau nei nā kānaka noiʻi i nā hoʻokolohua lapaʻau e ʻimi i nā lāʻau lapaʻau hou no nā kūlana e like me ka macular degeneration (me ka maʻi Stargardt). E nīnau i kāu kauka maka inā hiki iā ʻoe ke komo i kekahi o kēia mau hoʻokolohua lapaʻau. Inā pēlā, loaʻa paha iā ʻoe ka manawa kūpono e loaʻa ai nā lāʻau lapaʻau hoʻokolohua hou loa.

Āhea wau e ʻimi ai i ke aʻo lapaʻau?

E ʻike i ke kauka a i ʻole ke kauka maka i ka wā e ʻike ai ʻoe i kekahi mau loli i kou mau maka a i ʻole ka ʻike. Hiki ke like nā hōʻailona o ka maʻi Stargardt me nā maʻi maka ʻē aʻe, ʻoi aku paha ka maʻamau. No laila, he mea nui loa ka ʻike ʻana a me ka mālama ʻana i nā pilikia maka i ka hikiwawe loa .

He aha kāu e manaʻo ai inā loaʻa iā ʻoe ka maʻi Stargardt?

Pono ʻoe e manaʻo e nalowale mālie kou ʻike waena. No ka hapa nui o ka poʻe, lohi kēia nalowale, i nā makahiki, i kekahi manawa he mau makahiki. Eia nō naʻe, no kekahi poʻe, hiki ke hana wikiwiki. ʻO ke ʻano o ka mutation i loko o kāu gene ABCA4 e hoʻoholo paha i ka wikiwiki a me ka nui o ka ʻike āu e nalowale ai. E haʻi hou aku kāu kauka maka iā ʻoe e pili ana i kēia.

Pono ʻoe e hana i nā hoʻokolohua maka maʻamau . E nīnau i kāu kauka i ka pinepine o kou nānā ʻana i kou mau maka a me nā hoʻokolohua hou aʻe āu e pono ai e hana.

Pehea e hiki ai iaʻu ke mālama iaʻu iho me ka maʻi Stargardt?

Nui nā mea hiki iā ʻoe ke hana no ka mālama ʻana iā ʻoe iho:

• E ʻai i ka meaʻai momona. E ʻai i nā mea kanu a me nā huaʻai hou aku.
• Hoʻoikaika kino. He mea maikaʻi ka hoʻoikaika kino ʻana no nā mea āpau.
• Mai puhi paka.
• E kāohi i ke kaumaha.
• E hele i nā manawa i hoʻonohonoho ʻia e kāu kauka i ka manawa kūpono.

Āhea wau e ʻike ai i kaʻu kauka inā loaʻa iaʻu ka maʻi Stargardt?

E haʻi aku kāu kauka maka iā ʻoe e hoʻomau i ka ʻike ʻana iā lākou. E hōʻoia e hele i kēlā mau lā. Eia kekahi, inā loaʻa iā ʻoe kekahi mau loli koke i kou ʻike, a inā paha ʻoe e manaʻo i kekahi ʻeha a ʻoluʻolu ʻole paha i kou mau maka, e ʻike koke i kāu kauka.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka e pili ana i ka maʻi Stargardt?

Inā loaʻa iā ʻoe ka maʻi Stargardt, makemake paha ʻoe e nīnau i kāu kauka i nā nīnau e like me kēia:

• Hiki iā ʻoe ke kuhikuhi i kahi hui kākoʻo noʻu me nā poʻe ʻē aʻe i loko o kēia kūlana?
• Ua kūpono anei au e komo i kahi 'hoʻokolohua lapaʻau' ?
• Pono anei au e kamaʻilio me ke kākā'ōlelo genetic ? (Hiki i kēia ke kōkua iā ʻoe e ʻike inā paha he poʻe ʻē aʻe o kou ʻohana i ka pilikia.)
• Hiki iā ʻoe ke hāʻawi mai i kekahi mau mea hana a i ʻole nā ​​​​ʻano hana e hiki ke kōkua iaʻu e hana maʻalahi i nā hana o kēlā me kēia lā me ka ʻike haʻahaʻa ?

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

Hiki ke hopohopo ka noho ʻana me ka maʻi Stargardt. ʻO nā mea āpau e hoʻopilikia i kou ʻike hiki ke loaʻa ka hopena nui iā ʻoe. Akā , ʻaʻole ʻoe hoʻokahi. Hiki i kāu kauka maka a me ka hui mālama ola ke kōkua iā ʻoe e hoʻololi i kāu mau loli ʻike, pale i kou mau maka, a ola i kahi ola palekana a ʻoluʻolu hoʻi.

ʻOiai ʻaʻohe lāʻau lapaʻau no ka maʻi Stargardt i kēia manawa, ke ʻimi mau nei nā kānaka noiʻi i nā lāʻau lapaʻau hou. Inā makemake ʻoe, e kamaʻilio me kāu kauka e pili ana i ke komo ʻana i kahi hoʻokolohua lapaʻau. Mai hoʻokuʻu!

ʻO ka maʻi Stargardt, ka ʻike maka, ka ʻike waena, ka retina, ka makula, nā maʻi genetic