Axenfeld-Rieger Syndrome

Summarized by Plex Health
Last Updated: 02 May 2022
a novel pitx2 mutation in a chinese family with axenfeld-rieger syndrome. "a novel pitx2 mutation in a chinese family with axenfeld-rieger syndrome.", by Li D, Zhu Q, Lin H, Zhou N, Qi Y. f3: Ocular characteristics and systemic anomalies of the proband with Axenfeld-Rieger syndrome. Slit lamp photographs are shown of the proband showing iris hypoplasia and corectopia associated with partial aniridia in the right eye (A), and...

Axenfeld-Rieger syndrome is mainly an eye disorder, although it can also impact other parts of the body. The iris normally has a solitary central opening, called the student, through which light enters the eye. People with Axenfeld-Rieger syndrome typically have a student that is off-center or additional holes in the iris that can resemble several pupils. About half of affected people develop glaucoma, a major problem that increases pressure inside the eye. When glaucoma takes place with Axenfeld-Rieger syndrome, it usually develops in late childhood or teenage years, although it can occur as early as early stage. Glaucoma can cause vision loss or blindness. The symptoms and signs of Axenfeld-Rieger syndrome can influence other parts of the body. The condition is linked with dental irregularities including unusually small teeth or fewer than normal teeth. Some people with Axenfeld-Rieger syndrome have extra folds of skin around their tummy switch. Scientists have defined at least 3 types of Axenfeld-Rieger syndrome.

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