So w’ani yɛ kɔla a ɛyɛ nwonwa? So wowɔ anisoadehu ho haw? Ebetumi ayɛ aniwa mu albinism!

So woahyɛ no nsow pɛn sɛ nnipa binom aniwa yɛ hare yiye, anaasɛ ɛsono wɔn aniwa kɔla? Ebia ɛbɛyɛ den ama wɔn sɛ wɔbɛhwɛ owia, anaasɛ wɔn ani mpo betumi ayɛ nsu. Ade biako nti a eyi ba betumi ayɛ tebea bi a wɔfrɛ no ‘ocular albinism’, a yɛrebɛka ho asɛm nnɛ. Ebia eyi bɛyɛ te sɛ asɛmfua a ɛyɛ nwonwa ma wo, nanso ɛho hia yiye sɛ wubehu ho asɛm.

Dɛn ankasa ne ocular albinism, m’adamfo?

Sɛ yɛbɛka no tiawa a, aniwa mu albinism yɛ albinism bi. Ɛka w'ani titiriw . Sɛ wowɔ saa tebea yi a, w’ani kɔla ne sɛnea w’ani yɛ adwuma no nya nkɛntɛnso.

Fa no sɛ ade titiriw bi wɔ hɔ a ɛma yɛn ani, yɛn honam ani, ne yɛn ti nhwi kɔla, na wɔfrɛ no melanin . Saa aduru a wɔfrɛ no melanin yi na ɛma kɔla ahorow yi ba. Ɛnyɛ ɛno nko, na mmom saa melanin yi ho hia na ama yɛn aniwa ayɛ adwuma yiye na atumi ahu ade yiye. Enti, wɔ obi a ɔwɔ aniwa mu albinism mu no, saa melanin yi ntumi nkɔ nipadua no mu sɛnea ɛsɛ, titiriw wɔ aniwa no mu, anaasɛ ɛnkyɛ yiye wɔ aniwa no nyinaa mu. Esiane eyi nti, ntini ahorow bi a ɛwɔ aniwa no nhyehyɛe mu, kyerɛ sɛ, ɔkwan a wɔfa so hyehyɛ aniwa no, betumi aka, na ɔhaw afoforo nso betumi aba. Bere kɔ so no, eyi nso betumi de anisoadehu mu haw ahorow aba .

Adeɛ a ɛho hia paa ne sɛ ɛnyɛ sɛ melanin na ɛma kɔla nko, na mmom ɛho hia paa nso ma aniwa no yɛ adwuma yie.

So eyi ahorow bi wɔ hɔ?

Yiw, aniwa mu albinism ahorow atitiriw abien na ɛwɔ hɔ:

1. OA1: Wɔsan frɛ eyi Nettleship-Falls OA.

2. OA2: Wɔsan frɛ eyi Åland Supɔw so aniwa yare anaa Forsius-Eriksson OA.

Eyi yɛ awosu mu tebea a ɛntaa nsi. Ebia wuntumi mfi abɔnten nhu sɛ wowɔ bi. Nanso, ebetumi anya sɛnea wuhu wiase no so nkɛntɛnso kɛse. Ntease wom sɛ wobɛte abasamtu ne ehu nka wɔ tebea bi a enni akyi sɛnkyerɛnne biara anaasɛ kakraa bi ho. Nanso, aniwa ho animdefo ne akwahosan ho adwumayɛfo afoforo betumi aboa wo ma woanya ayaresa a ɛfata.

Dɛn ne obi a ɔwɔ aniwa mu albinism ho sɛnkyerɛnne?

Ebia nnipa binom a wɔwɔ aniwa mu albinism no anim yɛ bruu anaa fitaa a ɛyɛ hare yiye. Nanso, ebetumi aba nso sɛ obi benya aniwa a ɛyɛ bruu. Enti, wontumi mfa aniwa kɔla nkutoo nkyerɛ eyi.

Nneɛma afoforo a ɛfa aniwa pɔtee bi ho betumi ayɛ:

• Nystagmus: Eyi yɛ aniwa a ɛkɔ ntɛmntɛm a wontumi nni so, te sɛ nea ɛresaw. Eyi betumi ama ayɛ den sɛ wode w’adwene besi baabi biako so.
• Kɔla a wontumi nhu ade yiye anaasɛ kɔla anifurae: Sɛ wontumi nhu kɔla ahorow mu yiye, anaasɛ wontumi nhu kɔla ahorow bi.
• Strabismus ne Binocular Vision Dysfunction: Eyi ne bere a aniwa no nkyerɛ ɔkwan koro so, na mmom wɔdan aniwa biako kɔ ɔkwan foforo so. Eyi betumi ama obi ahu ade abien (binocular vision dysfunction).
• Anisoadehu a ɛyɛ kusuu anaa aniwa abien: Sɛ obi ntumi nhu ade yiye.
• Photophobia: Owia hann ne akanea a ɛhyerɛn a ɛma obi te nka kɛse . Aniwa yɛ bruu na entumi nnyina hann ketewaa bi mpo ano. Ebia nusu bɛsen afi aniwa no mu.
• Refractive errors: Eyinom ne nneɛma a ɛma yɛhyɛ ahwehwɛ. Sɛ nhwɛso no, nneɛma te sɛ myopia ne hyperopia.
• Anisoadehu a ɛba fam: Ɛtɔ mmere bi a eyi betumi ayɛ den araa ma ɛde mmara kwan so anifurae aba, a ɛkyerɛ sɛ sɛ wɔde ahwehwɛ mpo aniwa hu ade yiye.

So eyi ka aniwa nkutoo?

Aniwa mu albinism taa ka aniwa no. Nanso, sɛnkyerɛnne biako wɔ hɔ a ɛne aniwa nni abusuabɔ. Ɛno ne sensorineural aso a ɛyɛ mmerɛw a efi ase akyiri yi . Sɛnea edin no kyerɛ no, eyi ma n’aso yɛ den ansa na wadi mfe 50. Nanso, ɛnka obiara.

Dɛn nti na tebea yi ba? Dɛn ne nea enti a ɛte saa?

Ocular Albinism yɛ awosu mu yare . Sɛ yɛbɛka no tiawa a, nkwaadɔm mu nsakrae a ɛba yɛn awosu mu nkwaadɔm anaa DNA mu na ɛde ba. Saa awosu mu nsakrae yi ka ɔkwan pɔtee a yɛn nipadua no fa so yɛ anaa ɛkyekyɛ melanin.

Akwan abien na ɛwɔ hɔ a saa awosu mu nsakrae (nsakrae) yi betumi aba:

1. Agyapade: Eyi kyerɛ sɛ wunya saa awosu mu nsakrae yi fi w’awofo a wɔwoo wo no mu biako anaa wɔn baanu nyinaa hɔ. Wɔfrɛ eyi sɛ autosomal recessive inheritance .

2. Sporadic - de novo: Wei kyerε sε awosuo mu nsakraeε no ba randomly, de novo, bere a awotwaa bi nyin. Ɛnyɛ awofo no hɔ a wonya fi awo mu.

Ɔkwan bɛn so na oduruyɛfo hu aniwa mu albinism pɛpɛɛpɛ? (Nyare a Wɔahu) .

Sɛ oduruyɛfo anaa aniwa ho ɔyaresafo hwehwɛ w’ani mu a, ebia wobesusuw sɛ aniwa mu albinism esiane nsakrae bi a wotumi hu wɔ w’ani so nti. Ɛno akyi no, wɔde akwan pii di dwuma de si so dua sɛ ebia ɛyɛ aniwa mu albinism ampa, ne ɔkwan a ɛyɛ ne su ketewaa bi.

Nsɛnkyerɛnne bi a ebia w’ani ho ɔbenfo behu ni:

• Iris hann a ɛtrɛw:Transillumination yɛ hann a ɛfa w’aniwa a ɛyɛ tumm no mu. Esiane sɛ melanin nni hɔ nti, iris no yɛ teateaa, na ɛma hann fa mu.
• Nsonsonoe a ɛwɔ retina mu: Ɛtɔ mmere bi a ocular albinism betumi ama nsakrae aba wo retina no fã titiriw bi nsusuwii mu – aniwa no fã a ɛboa wo ma wuhu ade – a wɔfrɛ no fovea . Fovea no ne baabi a yehu nneɛma pefee. Enti, nsakrae yi betumi aka sɛnea retina no yɛ adwuma.
• Nsonsonoe a ɛwɔ ntini ahorow mu: Sɛ wowɔ ocular albinism a, ɛda adi sɛ wubenya nsonsonoe wɔ nhyehyɛe mu wɔ optic nerve , a ɛka w’ani ne w’amemene bom no mu. Saa nsonsonoe ahorow yi betumi aka ɔkwan a w’amemene no fa so di nsɛnkyerɛnne a wotumi hu ho dwuma ne sɛnea wuhu wiase no.

Nea ɛka eyi ho no, nhwehwɛmu afoforo wɔ hɔ a ebetumi aboa ma wɔahu aniwa mu albinism:

• Mogya mu nhwehwɛmu
• Awosu mu nhwehwɛmu
• Visual evoked potentials (VEP) sɔhwɛ
• Optical coherence tomography (OCT) a wɔde hwehwɛ nneɛma mu
• Slit kanea sɔhwɛ

Wɔ tebea horow bi mu no, sɛ wɔsɔ abofra a ɔwɔ aniwa mu yare no awofo biako anaa wɔn baanu nyinaa hwɛ a, ebetumi aboa ma wɔahu aniwa mu yare ko a abofra no wɔ.

So wobetumi asa aniwa mu albinism koraa?

Dabi, wontumi nsa no yare koraa. Ocular Albinism yɛ awosu mu yare. Eyi kyerɛ sɛ nsakrae a ɛba yɛn DNA mu na ɛde ba. Enti, wontumi nsa awosu mu tebea a ɛda adi no.

Nanso, nea ɛho hia sen biara no, wobetumi asa nkɛntɛnso a aniwa mu albinism nya wɔ aniwa so – te sɛ refractive errors anaa strabismus – no kɛse. Saa ayaresa ahorow yi betumi aboa wo ma woahu ade yiye, nanso ɛnsakra awosu mu yare a ɛwɔ ase no.

Ɛmfa ho aniwa mu albinism ko a wowɔ, ne nea efi mu ba no, w’ani ho oduruyɛfo betumi ama wo nsɛm a eye sen biara afa ayaresa ahorow a wubetumi de adi dwuma ho.

Nsɛmmisa a ɛho hia bɛn na ɛsɛ sɛ wobisa oduruyɛfo no?

Ɛyɛ papa sɛ wubebisa wo duruyɛfo anaa aniwa ho ɔbenfo nsɛm te sɛ eyinom:

• Ocular albinism bɛn na mewɔ?
• So eyi yɛ biribi a minyaa fii awo mu?
• So me mma a wɔwoo me no betumi anya eyi afi me hɔ?
• Ayaresa ahorow bɛn na wokamfo kyerɛ?
• So nneɛma foforo bi wɔ hɔ (e.g., mmoa akuw, nhomasua nneɛma) a ebetumi aboa me?

Sɛ wowɔ ocular albinism a, dɛn na wobɛhwɛ kwan?

Ocular Albinism yɛ tebea a ɛkɔ so wɔ nkwa nna nyinaa mu. Nanso, ɛtaa tumi yɛ "tebea a aniwa nhu" a abɔnten wiase no nhu. Nnipa pii nnim sɛ wɔwɔ tebea no kosi sɛ wɔbɛyɛ wɔn aniwa mu nhwehwɛmu na wɔahu nsakrae wɔ wɔn aniwa mu. Nnipa a wɔwɔ tebea no betumi anya anisoadehu a emu nyɛ den kosi nea emu yɛ den .

Nnipa a wɔwɔ aniwa mu albinism hia sɛ wɔhwɛ wɔn aniwa so daa wɔ wɔn nkwa nna nyinaa mu. Na, ɛtɔ mmere bi a, ebia awofo behu sɛ wɔn na wɔde awosu mu nsakrae a ɛde ba bere a wɔn ba nya tebea no ho sɛnkyerɛnne ahorow no.

Ocular albinism a wubenya no betumi aka sɛnea wuhu wiase no, nanso enhia sɛ esiw wo kwan sɛ wobɛbɔ w’asetra sɛnea wopɛ.

Ayaresa ahorow bi wɔ hɔ a ebetumi aboa wo ma woatew wo sɛnkyerɛnne ahorow no so anaasɛ woadi ho dwuma na woatra ase ne nea efi tebea yi mu ba no. Aniwa mu nhwehwɛmu a wobɛyɛ daa nso betumi aboa ma w’ani ayɛ yiye.

Sɛ wo anaa wo ba wɔ ocular albinism a, ebia ɛho behia sɛ wokamfo wo ho kyerɛ na ama woanya nneɛma ne hokwan ahorow a wuhia. Wo ne wo duruyɛfo anaa aniwa ho ɔbenfo nkasa. Wobetumi de akwankyerɛ ne mmoa ama wo. Wubetumi nso anya mmoa wɔ intanɛt so mpɔtam hɔ ama nnipa a wɔwɔ aniwa mu albinism a ɛbɛboa wo ma woayɛ nsakrae wɔ wo tebea no mu na woatra ase sɛnea wopɛ. Mma ɛnhaw wo, ɛnyɛ wo nko ara.

Dɛn ne nkrasɛm a yɛde kɔ fie a yɛpɛ sɛ yegye fi eyi mu?

Okay, enti seesei woanya nteaseɛ pa wɔ deɛ yɛaka ho asɛm nnɛ no ho, Ocular Albinism. Nneɛma a ɛho hia a ɛsɛ sɛ wokae ni:

• Ocular Albinism yɛ awosu mu tebea a efi melanin a enni aniwa mu na ɛde ba. Eyi betumi aka anisoadehu ne aniwa kɔla.
• Eyi ho sɛnkyerɛnne betumi ayɛ soronko. Ebia nneɛma te sɛ aniwa a ɛkeka ne ho (nystagmus), hann ho nkate (photophobia), ne aniwa a ɛso tew wɔ hɔ.
• Ɛwom sɛ wontumi nsa koraa de, nanso ayaresa ahorow bi wɔ hɔ a wɔde di sɛnkyerɛnne ahorow no ho dwuma na wotumi hu ade yiye.
• Aniwa mu nhwehwɛmu a wɔyɛ no daa ne nnuruyɛfo afotu ho hia.
• Sɛ wo anaa wo ba wɔ saa tebea yi a, mma wo ho nnpopo. Sɛ wonya mmoa ne nsɛm a ɛfata a, wubetumi de atra ase yiye.

Sɛ wowɔ nsɛmmisa foforo bi fa eyi ho a, hwɛ hu sɛ wo ne wo duruyɛfo bɛkasa. Kɔ so nya apɔwmuden!

` Aniwa mu Albinism, Aniwa mu Albinism, Aniwa mu Nyarewa, Anisoadehu a Ɛnyɛ Den, Melanin, Awosu mu Nyarewa, Aniwa Akwahosan