Congenital amaurosis Leber: mea, lalau mai, symptoms a me ka hana hiʻona

Maʻi o ka pilikia makapō i hoʻomākaukauʻia ua haawi mau ana i ke ahonui o ka hailonaʻana o ka hana a he leo a me ka pilikia. Maka - o ka papa kuhikuhiE sensory hui,. Me ia, kanaka keʻike i ka honua a me ka hoopau orient ia lakou iho i loko o ka lewa. Ke pathology loa weliweli ua noʻonoʻo i ka lilo o ke kikowaena hihiʻo. I ka 'inikua hana, ka mea, ua loaʻa kapaia Leber ka amaurosis. Lapaʻau, symptoms, ke kumu maʻi - kēia mau mea wale nō kekahi o nā nīnūnē e e kūkākūkā i kēia lā i ka 'atikala.

Description o ka maʻi a me kona Lolina

Amaurosis mea he ocular pathology pa alima i loko i loaʻa ka hapa paha huina makapō. Keia ano, 'aʻole me ka pololei manao o ka hui, poino hou pili. He He loiloi kekahi. A mai ke kumu ma ka hoʻohuikau o na nā aʻalolo o ka pilikia makapō i hoʻomākaukauʻia. Kēia mea me kēia nui ka hihia wā, ma ka ophthalmic ninaninau, ke kauka 'aʻole i ike i kekahiʻiʻo deviations. Ma keia hihia, ke ahonui complains o ka paakiki pilikia makapō hoʻopilikia.

Amaurosis mea a mau hoailona ia mea: transient (transient) a me ka congenital. Ua wehewehe aku i ka hihia mua e ka? aiaiiuie lilo o ka hihiʻo. Ka hooulu ana o ka maʻi, ana, kena ae la ia e ischemia i loko o ke kīʻaha o ka carotid artery. Me ke kōkua o ka lapaʻauʻia a me ka hoʻoponopono-hihiʻo ua hoʻihoʻi koke. Inā ke kāʻei kua o transient makapo symptoms o ischemia progresses,ʻoki kino ua hana. Kēiaʻano o ka hana ka pinepine e pale aku hahau i loko o nā mea maʻi.

Congenital amaurosis Leber mea a pau ukupanee i ka lapaau a me nā kānakaʻepekema. Nolaila, ia mea kupono e noonoo i kēia pathology kaawale.

Features Leber congenital amaurosis

Hereditary ano o ka maʻi, kauka e pili ana me ka aaiaoe kāna hana rhodopsin? Iecaianoaaiiuo. He kuleana no ka EYI o ka 'ike ma ke aʻalolo laulau i loko o ka lolo. Inā rhodopsin lawa, ana ka retina ua ana o ka malamalama i loko o ka lāʻau ikiʻai o ka i pilikia makapō kiʻi i hana ai a laila. E like me nā haʻawina ma ke kumuhana, ma ka hou e rhodopsin pathological kaʻina i kŰlń ao i nā wahi - mau laau la, a cone.

Leber congenital amaurosis mua manawa i'ōleloʻia i ka 1867. Ke nä känaka 'epekema, ua hope nona ka inoa i kapaʻia ai ka maʻi, hōʻike' kona papa kuhikuhiE hoike ana. He mea oi loa aku hoi ka makapō, nystagmus, a me ka helehelena o ka makahiki pūkoʻa ia ma luna o ka fundus. Ke pathology, kŘpa a pohihihi (3 hihia no 100 tausani. Heluna). Ua like e loli ai i nā kānaka a me nā wāhine.

Ke kumu nui

No ke aha la he mea kekahi congenital amaurosis Leber? Nā kumu o ka maʻi i nō IKE OLE IA. Ua nui na kauka e olelo aku ana ia ma muli o ia i ka nele o akaka oihana mua o ka specificity pigment epithelium (rhodopsin) me photoreceptors. Ua ua kena ae la ia e abnormalities o aaiaoe mea. Pathology mai he autosomal recessive pololei o ka EYI. He mea ia e makau wale inā nā makua DNA mea i loaʻa i loko o ka mutated'ōewe.

Mākou e kamaʻilio e pili ana i ka RPE-65'ōewe i loko o ka chromosome mua. Ma kekahi nä känaka 'epekema i kēia lā, aia nō ma kahi o 80ʻano likeʻole o kona mutations, a predispose i ka helu o ke ano o retinal abiotrophy. Kumuʻiʻo encoded ma keia'ōewe mea kuleana no ka pūnao o retinol i loko o ka pigment epithelium. Ma ke alo o ka aaiaoe kina ho'ākāka 'ia ma kaʻina ke aloha. E like me ka hopena, i ka hoʻololi kemikala o rhodopsin aɃe i nā hualoaʻa ma ka nānā o symptoms ano o ka maʻi.

lapaʻau kiʻi

Hereditary Leber ka congenital amaurosis ua 'akomi i loko o kakahiaka kamaliʻi. Ma na keiki a me keiaʻike, IeAUPIIe, IAa IOʻaʻohe pilikia makapō reflexes. Ka mea, e clumsy a me kēlā wā i kēia wā iki i ana ia lakou iho. Ua mea waiwai 'ana i kumumanaʻo i ka makapō mea ole loa i hanau. Iloko o ke ola ana o ke keiki āna progresses, akā, kokoke i puberty hele aku ai i ke hoʻokō 'ia poho o ka hihiʻo. Eia naʻe, he mau hewa.

Congenital amaurosis Leber ka ua wehewehe aku ma ka kēia symptoms:

1. Involuntary maka ana.
2. Nā haumana pane koke poorly i ka malamalama.
3. Ke keiki paʻakikī lawa e kālele ana i kona nānā aku ma luna o kekahi mea. Ua kokoke 'Aʻole i maopopo kokoke mea.
4. E nana mau auwana auanei lakou.
5. Pathology ua pinepine pu ma keratoconus. He kina ma i ka cornea alters kaʻike mau hoʻonohonohoʻia. Ua liloʻohana-hoʻokino.

Leber ka congenital amaurosis, ma ka hapanui o na hihia, ka systemic ma ke ano maoli, a ua pili i nā kāna hana. Oia na keiki i noʻonoʻo retardation. Ka mea, IeAUPIIe, IAa IO i hune, aole hoi i lohe. I ka maʻi ua complemented ma nā abnormalities o ka na nā loko.

ki ina hana like o kaʻike,

No ka mea, o ka helu nui o ka maʻi hoike ana mai o ka 'oihana likeʻole o kekahi manawa paʻakikī i nā manaʻoi hoʻokoe' kēia Leber congenital amaurosis. Kumu, symptoms o kēia maʻi, a me ka hapanui o na makua mai e ike. Nolaila, aole lakou eʻaʻole koke imi kōkua mai i kekahi kauka.

Lapaʻau 'ua hoʻoili optometrist. I kekahi manawa e pono ai ke kōkua o waho hoʻomalu :. Neurologist, Angiology, etc. ninaninau o ka hoʻomanawanui hoʻomaka me ka hoʻopaʻa 'ana o kona mōʻaukala. Ma keia hihia, ke kauka i keia hookolokolo ana ke noi clarifying ninau. No ka laʻana, i ka wa a ka mua symptoms o ka maʻi iʻikeʻia, hihia o ka amaurosis nā 'ohana, ua hōʻike'.

He OAXA ia i kekahi wahi hoʻomanawanui hoʻomalu hoʻokolokolo ai i ka fundus o ka maka, hihio loaʻa, e kaha, e like ai pilikia makapō reflex. Inā pono, ka mea, ua kauoha ia ka MRI, e like me hoonoho i hou kūkā me ke geneticist.

Inc Hiʻona

Leber ka congenital amaurosis mea ole treatable. e like me kekahi ophthalmologists kūpono, noʻonoʻo i ka hookohu o ka mālama 'ana i Inc. Oia ka papa ka loaʻa o ka hoʻohana 'ana o ka wikamina eiiieaenu, intraocular ka pahu kui a me ka vasodilator ai'.

Nō kāu, e like me nā mea maʻi, oiai ka malama ana i ka lawa kiʻekiʻe o ke hoomaopopo, i ke kauka prescribes makaaniani. Eia naʻe, e like me kā lākou kōkua ia mea loa paʻakikī e maopopo ma waena o ka lehalehu t, ka 'aoʻao o ka' ē aʻe. Child compulsorily kau ma luna o ka mooolelo ma ka neuropathologist.

Na makua, ma ka huli, e hoakaka i ka mamao ma i ke kamaiki mea hiki ke maopopo ma waena o ka hōʻike o nā kanaka. No ka mea kupono kahua o ka Central ko mākou hopohopo'ōnaehana ia mea maikaʻi, e ia i loko o ka laulā i hoakaka ia spacers. Ua kokoke loa i kahi e ae i ke keiki, eʻike maka, lehalehu t, ka 'aoʻao e kope a, e leka uila i ka pili o kona hanauna.

Ke prognosis no nā mea maʻi

I ka lā, kauka hiki ole kaumaha nā hoʻomāka pono a me ka ala, e hana me ka amaurosis. Naʻe, a puni ka honua,ʻepekema hoʻomau e hoʻomaka lapaʻau o na hoao ana a me ka imi ao lapaau. Kekahi o kēia mau hōʻike maikaʻi nā hualoaʻa. No ka laʻana, ka wā lawelawe i loko o ka retina o RPE65'ōewe maka e hoomanawanui i hōʻike he nui hou ma ka hihio.

Like no ka maʻi prognosis, ia mea i loko o ka hapanui hihia noho lakou malaila. Kahi o 95% o nā mea maʻi i 10 makahiki ma laila mea i piha lilo o ka hihiʻo.