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- Title
Congenitalis aniridia - szemészeti és szisztémás spektrum betegség.
- Authors
Mária, Csidey; Annamária, Náray; Klaudia, Kéki-Kovács; Orsolya, Németh; Krisztina, Knézy; Mária, Bausz; Andrea, Szigeti; Anita, Csorba; Kitti, Kormányos; Dorottya, Szabó; Kálmán, Tory; Zsolt, Nagy Zoltán; Erika, Maka; Nóra, Szentmáry
- Abstract
Congenital aniridia is a rare, congenital condition. It is most commonly caused by a mutation in the PAX6 gene. Its most characteristic ophthalmic abnormality is the absence of the iris, which can range from complete deficiency to mild hypoplasia. Alongside ophthalmic abnormalities, since the PAX6 gene plays a role in the development of the nervous system, pancreas, and olfactory system, general symptoms may also accompany the condition. Congenital aniridia is a panocular disorder, causing abnormalities in all layers of the eye, resulting in varying degrees of visual acuity loss. The condition can lead to decreased visual acuity, low vision, or even blindness. Early rehabilitation, vision development, and preparation for independent living are crucial for children.
- Publication
Gyermekgyógyászat, 2024, Vol 75, Issue 2, p108
- ISSN
0017-5900
- Publication type
Article