Ngaba amehlo akho anombala ongaqhelekanga? Ngaba unengxaki yokubona? Isenokuba yi-albinism yamehlo!

Ngaba wakha waphawula ukuba abanye abantu banamehlo akhanyayo kakhulu, okanye amehlo abo anemibala eyahlukileyo? Basenokuba nobunzima bokujonga ilanga, okanye amehlo abo asenokude anciphe. Esinye isizathu soku singaba yimeko ebizwa ngokuba yi-'ocular albinism', esiza kuthetha ngayo namhlanje. Oku kungavakala ngathi ligama elingaqhelekanga kuwe, kodwa kubaluleke kakhulu ukwazi ngalo.

Yintoni kanye kanye i-ocular albinism, mhlobo wam?

Ngamafutshane, i-ocular albinism luhlobo lwe-albinism. Ichaphazela kakhulu amehlo akho . Xa unale meko, umbala wamehlo akho kunye nendlela asebenza ngayo amehlo akho ziyachaphazeleka.

Khawucinge nje, kukho into ekhethekileyo enika umbala emehlweni ethu, kulusu, nakwiinwele zethu, kwaye ibizwa ngokuba yi-melanin . Le pigment ebizwa ngokuba yi-melanin inoxanduva lwale mibala. Ayipheleli apho, kodwa le melanin ibalulekile ukuze amehlo ethu asebenze kakuhle kwaye abone kakuhle. Ngoko ke, kumntu one-ocular albinism, le melanin ayiveliswa ngokwaneleyo emzimbeni, ingakumbi ngaphakathi emehlweni, okanye ayisasazeki kakuhle kuwo onke amehlo. Ngenxa yesi sizathu, ezinye zezicubu ezikwisakhiwo samehlo, oko kukuthi, indlela elakhiwe ngayo iliso, zinokuchaphazeleka, kwaye ezinye iingxaki zinokuvela. Ekuhambeni kwexesha, oku kunokubangela iingxaki zokubona .

Into ebalulekileyo kukuba i-melanin ayibangeli nje kuphela ukubonelela ngombala, kodwa ikwabaluleke kakhulu ekusebenzeni kakuhle kwamehlo.

Ngaba kukho iintlobo zezi?

Ewe, kukho iintlobo ezimbini eziphambili ze-ocular albinism:

1. OA1: Oku kukwabizwa ngokuba yiNettleship-Falls OA.

2. OA2: Oku kwaziwa ngokuba sisifo samehlo sase-Åland Island okanye i-Forsius-Eriksson OA.

Esi sisifo esingaqhelekanga semfuza. Usenokungakwazi ukubona ngaphandle ukuba unaso. Nangona kunjalo, sinokuba nefuthe elikhulu kwindlela obona ngayo ihlabathi. Kuyaqondakala ukuziva udanile kwaye usoyika imeko engenazo iimpawu zangaphandle okanye ezimbalwa. Nangona kunjalo, iingcali zamehlo kunye nabanye ababoneleli bezempilo banokukunceda ufumane unyango olufanelekileyo.

Zithini iimpawu zomntu one-albinism yamehlo?

Abanye abantu abane-albinism yamehlo banokuba ne-iris ekhanyayo okanye engwevu. Nangona kunjalo, kunokwenzeka ukuba namehlo amdaka. Ngenxa yoko, oku akunakubonwa ngombala wamehlo kuphela.

Ezinye iimpawu ezichaphazela amehlo zingabandakanya:

• I-Nystagmus: Le yintshukumo ekhawulezayo nengalawulekiyo yamehlo, ngokungathi ayadanisa. Oku kunokwenza kube nzima ukugxila kwindawo enye.
• Ukungaboni kakuhle imibala okanye ukungaboni kakuhle imibala: Ukungakwazi ukwahlula imibala ngokufanelekileyo, okanye ukungaboni eminye imibala.
• Ukungasebenzi kakuhle kweStrabismus kunye neBinocular Vision: Oku kwenzeka xa amehlo engajongi kwicala elinye, kodwa elinye iliso lijikwa kwelinye icala. Oku kunokubangela ukubona kabini (ukungasebenzi kakuhle kwebinocular vision).
• Umbono ofipheleyo okanye umbono ophindwe kabini: Ukungakwazi ukubona ngokucacileyo.
• I-Photophobia: Ukuziva ukhululekile kakhulu elangeni nakwizibane ezikhanyayo. Amehlo aba luhlaza okwesibhakabhaka kwaye akakwazi ukumelana nokukhanya okuncinci. Iinyembezi zinokuphuma emehlweni.
• Iimpazamo zokujongwa kwezinto: Ezi zizinto ezisibangela ukuba sinxibe iiglasi. Umzekelo, izinto ezifana ne-myopia (ukubona izinto zikude) kunye ne-hyperopia (ukubona izinto zikude).
• Ukubona okuphantsi: Ngamanye amaxesha oku kunokuba nzima ngokwaneleyo ukubangela ubumfama obusemthethweni, oko kuthetha ukuba ukubona kunqongophele kakhulu nokuba kukho iiglasi.

Ngaba oku kuchaphazela amehlo kuphela?

I-albinism yeliso idla ngokuchaphazela amehlo. Nangona kunjalo, kukho uphawu olunye olungahambelaniyo namehlo. Loo nto kukulahlekelwa kukuva okubangelwa kukuva okubangelwa zi-sensorineural . Njengoko igama lisitsho, oku kubangela ukulahlekelwa kukuva ngaphambi kokuba umntu abe neminyaka engama-50 ubudala. Nangona kunjalo, ayichaphazeli wonke umntu.

Kutheni le meko isenzeka? Zithini izizathu?

I-Ocular Albinism yimeko yemfuza . Ngamafutshane, ibangelwa kukuguquka kwezakhi zofuzo zethu, okanye i-DNA. Olu tshintsho lwezakhi zofuzo luchaphazela ngokukodwa indlela umzimba wethu ovelisa okanye osasaza ngayo i-melanin.

Kukho iindlela ezimbini ezinokwenzeka ngazo ezi nguqu zemfuza (iinguqu):

1. Ilifa: Oku kuthetha ukuba ufumana olu tshintsho lwemfuza komnye okanye bobabini abazali bakho bemvelo. Oku kubizwa ngokuba yi -autosomal recessive inheritance .

2. Ukungacwangciswanga - de novo: Oku kuthetha ukuba utshintsho lwemfuza lwenzeka ngokungacwangciswanga, de novo, ngexesha lokukhula kwemveku. Aluzuzwanga kubazali.

Ugqirha uyixilonga njani ngokuchanekileyo i-ocular albinism? (Ukuxilongwa)

Xa ugqirha okanye ingcali yamehlo ihlola amehlo akho, banokukrokrela ukuba i-albinism yamehlo ibangelwa lutshintsho oluthile olubonakalayo emehlweni akho. Emva koko, basebenzisa iindlela ezahlukeneyo ukuqinisekisa ukuba ngaba yi-albinism yamehlo, kwaye loluphi uhlobo kunye nohlobo lwayo.

Nazi ezinye zeempawu ezinokubonwa yingcali yamehlo:

• Ukukhanya kwe-Iris:Ukukhanya okugqithisileyo kukudlula kokukhanya kwi-iris emnyama yeliso lakho. Ngenxa yokungabikho kwe-melanin, iris iba ncinci, nto leyo evumela ukukhanya ukuba kudlule.
• Umahluko kwi-retina: I-albinism yeliso ngamanye amaxesha inokubangela utshintsho kwimo yenxalenye ekhethekileyo ye-retina yakho - inxalenye yeliso ekuncedayo ukubona - ebizwa ngokuba yi-fovea . I-fovea yindawo esibona kuyo izinto ngokucacileyo. Ngoko ke, olu tshintsho lunokuchaphazela indlela esebenza ngayo i-retina.
• Umahluko kwisakhiwo semithambo-luvo: Ukuba une-albinism yamehlo, kusenokwenzeka ukuba ube nomahluko kwisakhiwo semithambo-luvo , edibanisa amehlo akho nengqondo yakho. Olu mahluko lunokuchaphazela indlela ingqondo yakho esebenza ngayo imiqondiso yokubona kunye nendlela obona ngayo ihlabathi.

Ukongeza koku, kukho nezinye iimvavanyo ezinokunceda ekuxilongeni i-ocular albinism:

• Uvavanyo lwegazi
• Uvavanyo lwemfuza
• Uvavanyo lwe-Visual evoked potentials (VEP)
• Iskeni se-Optical coherence tomography (OCT)
• Uvavanyo lwesibane esiqhekekileyo

Kwezinye iimeko, ukuvavanya omnye okanye bobabini abazali bomntwana one-ocular albinism kunokunceda ekuqinisekiseni ukuba loluphi uhlobo lwe-ocular albinism umntwana analo.

Ngaba i-ocular albinism inokunyangeka ngokupheleleyo?

Hayi, ayinakunyangwa ngokupheleleyo. I-Ocular Albinism sisifo semfuza. Oku kuthetha ukuba sibangelwa lutshintsho kwi-DNA yethu. Ngoko ke, imeko yemfuza esisiseko ayinakunyangwa.

Kodwa, okona kubaluleke kakhulu, iziphumo ze-ocular albinism emehlweni - ezinje ngeempazamo ze-refractive okanye i-strabismus - zinokunyangwa kakhulu. Olu nyango lunokukunceda ubone ngcono, kodwa alutshintshi isifo esibangela imfuza.

Nokuba loluphi uhlobo lwe-albinism onayo, kwaye iyintoni na imiphumo yayo, ugqirha wakho wamehlo unokukunika ulwazi olungcono malunga nonyango olunokwenzeka.

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Kungcono ukubuza ugqirha wakho okanye ingcali yamehlo imibuzo efana nale:

• Luhlobo luni lwe-albinism endinayo emehlweni?
• Ngaba le yinto endiyizuzile njengelifa?
• Ngaba abantwana bam bokuzalwa banokulifumana eli lungelo kum?
• Loluphi unyango olucebisayo?
• Ngaba kukho ezinye izixhobo (umz., amaqela enkxaso, izixhobo zemfundo) ezinokundinceda?

Yintoni onokuyilindela ukuba une-ocular albinism?

I-Ocular Albinism yimeko ehlala ixesha elide. Nangona kunjalo, isenokuba "yimeko engabonakaliyo" engabonakaliyo kwihlabathi langaphandle. Abantu abaninzi abazi ukuba banale meko de bahlolwe amehlo kwaye kufumaneke utshintsho ngaphakathi kwamehlo abo. Abantu abanale meko banokuba nokuphazamiseka kokubona okuqala kokuncinci ukuya kokubi kakhulu .

Abantu abane-albinism yamehlo bafuna unyango lwamehlo oluqhubekayo ubomi babo bonke. Kwaye, ngamanye amaxesha, abazali banokufumanisa ukuba bangabathwali botshintsho lwemfuza olubangelwa yile meko xa umntwana wabo ebonakalisa iimpawu zale meko.

Ukuba ne-ocular albinism kunokuchaphazela indlela olibona ngayo ihlabathi, kodwa akufuneki kukuthintele ukuba uphile ubomi bakho ngendlela oyifunayo.

Kukho unyango olunokukunceda ukunciphisa okanye ukulawula iimpawu zakho kwaye uphile nemiphumo yesi sifo. Ukuhlolwa kwamehlo rhoqo kunokunceda ukugcina amehlo akho esempilweni.

Ukuba wena okanye umntwana wakho une-ocular albinism, kunokufuneka uzikhuthaze ukuze ufumane izixhobo namathuba owadingayo. Thetha nogqirha wakho okanye ingcali yamehlo. Banokukunika isikhokelo nenkxaso. Ungafumana inkxaso nakwiindawo ezikwi-intanethi zabantu abane-ocular albinism ukukunceda ulungelelane nemeko yakho kwaye uphile ubomi obufunayo. Ungakhathazeki, awuwedwa.

Sithini isigidimi esimele sithathwe koku?

Kulungile, ngoku uyaqonda ngcono into esithethe ngayo namhlanje, i-Ocular Albinism. Nazi izinto ezibalulekileyo ekufuneka uzikhumbule:

• I-Ocular Albinism yimeko yemfuza ebangelwa kukungabikho kwe-melanin emehlweni. Oku kunokuchaphazela umbono kunye nombala wamehlo.
• Iimpawu zoku zingahluka. Kusenokuba nezinto ezifana nokuhamba kwamehlo (nystagmus), ukungakwazi ukubona kakuhle (photophobia), kunye nokuncipha kokubona.
• Nangona ingenakunyangwa ngokupheleleyo, kukho iindlela zonyango zokulawula iimpawu nokuphucula umbono.
• Ukuhlolwa kwamehlo rhoqo kunye neengcebiso zonyango kubalulekile.
• Ukuba wena okanye umntwana wakho unale meko, musani ukoyika. Ngenkxaso nolwazi olufanelekileyo, ningaphila kakuhle nayo.

Ukuba unemibuzo engaphezulu malunga noku, qiniseka ukuba uthetha nogqirha wakho. Hlala usempilweni!

I- Ocular Albinism, I-Ocular Albinism, Izifo Zamehlo, Ukuphazamiseka Kokubona, I-Melanin, Izifo Zemfuza, Impilo Yamehlo