Isizathu esabelwe njengeMfama
Isifo se-Norrie sisifo esizuze ilifa elikhokelela ekuphoseni ekuzalweni okanye kungekudala, ukulahlekelwa kwindlebe kunye nokulibaziseka kokuphuhliswa. Utshintsho kwi-gene ye-NDP kwi-X ye-chromosome imbangela ye-Norrie isifo. Ilifa kwi- X-linked pattern excessive . Ngenxa yesi sizathu, isifo sikaNorrie sisichaphazela kakhulu amakhwenkwe. Ayaziwa ukuba kaninzi kangakanani isifo sikaNorrie.
Iimpawu
Iimpawu zesifo se-Norrie zingabandakanya:
- ukungaboni emehlweni abo bobabini xa bezalwa okanye emva kwangoko
- abafundi bavele bebala ezimhlophe xa kukhanya kukhanya kubo (leukocoria)
- Iindawo ezinemibala (irises) zinokuhlehla emva kokuzalwa
- Iimboniselo zamehlo zinganciphisa emva kokuzalwa
- ukufiphaza kwiilensi zamehlo (i-cataracts)
- Ukunyamekela ukulahlekelwa kwindlebe kunokuphuhliswa ngokuhamba kwexesha
- ukulibaziseka kokuphuhliswa kwezakhono zamandla ezifana nokuhlala kunye nokuhamba
- ukukhawuleza kwengqondo
Isifo se-Norrie sinokubangela iingxaki ngokujikeleza, ukuphefumula, ukugaya, kunye nokugqithisa.
Ukuxilongwa
Ukuba iimpawu zomntwana zibonisa isifo se-Norrie, ugqirha weziliso ( ophthalmologist ) liya kuhlola amehlo omntwana. Ukuba isifo se-Norrie sisekhona, i-ophthalmologist izakubona i-retina engavamile ngasemva kweso. Ukuxilongwa kwakhona kuya kuqinisekiswa ngovavanyo lwemizimba yokuguqulwa kwegeni le-NDP kwi-X ye-chromosome.
Unyango
Akukho nonyango oluthile lwe-Norrie isifo kwaye akukho ndlela yokuyeka okanye ukuguqula ukulahleka kombono kunye nokuva.
Unyango lwonyango luyadingeka kwezinye iingxaki zesifo esenokubangela, njengokuphefumula okanye ukugaya. Umntwana onesi sifo sikaNorrie uya kufuna imfundo ekhethekileyo ngenxa yokukhubazeka kwakhe okubonakalayo kunye nokulahlekelwa kwintetho.
Imithombo:
> "I-Norrie Disease." Index of the Rare Diseases. 7 kuMatshi 2008. Umbutho weSizwe weengxaki eziqhelekileyo.
> Roche, O. "I-Norrie Disease." Iintsholongwane. Julayi 2005. I-OrphaNet.
> "I-Norrie Disease." I-Reference Reference Home. Matshi 2007. iThala leNgcaciso yeMicrotheli.
> "I-Norrie Disease." Index of Conditions. Oktobha 2005. Qhagamshelana Nentsapho.