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How is Axenfeld-Rieger Syndrome diagnosed?

See how Axenfeld-Rieger Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Axenfeld-Rieger Syndrome

Axenfeld-Rieger Syndrome diagnosis

Diagnosis of Axenfeld-Rieger Syndrome


Axenfeld-Rieger Syndrome (ARS) is a rare genetic disorder that affects the development of the eye and other parts of the body. It is characterized by various ocular abnormalities, such as malformation of the iris, cornea, and drainage structures, as well as dental and facial anomalies. Diagnosing ARS involves a comprehensive evaluation of the patient's medical history, physical examination, and specialized tests.



Medical History


The first step in diagnosing ARS is obtaining a detailed medical history of the patient and their family. The healthcare provider will inquire about any symptoms or abnormalities related to the eyes, teeth, or facial features. They will also ask about any known family history of similar conditions, as ARS is often inherited in an autosomal dominant pattern.



Physical Examination


During the physical examination, the healthcare provider will carefully assess the patient's eyes, teeth, and facial structure. They will look for characteristic signs of ARS, such as a prominent forehead, flattened midface, and a broad nasal bridge. The eyes will be examined for abnormalities in the iris, cornea, and anterior chamber angle. Dental abnormalities, including missing or misshapen teeth, may also be observed.



Specialized Tests


To confirm the diagnosis of ARS and evaluate the extent of ocular involvement, several specialized tests may be performed:




  1. Slit-lamp examination: This test allows for a detailed examination of the anterior segment of the eye, including the cornea, iris, and drainage structures. It helps identify any structural abnormalities or malformations.

  2. Gonioscopy: This procedure involves using a special lens to examine the drainage angle of the eye. It helps determine if there are any abnormalities in the drainage structures, which can lead to increased intraocular pressure and glaucoma.

  3. Optical coherence tomography (OCT): This non-invasive imaging test provides high-resolution cross-sectional images of the eye. It can help assess the thickness and integrity of the cornea, as well as detect any structural abnormalities in the anterior segment.

  4. Genetic testing: In some cases, genetic testing may be recommended to identify specific mutations or variations in genes associated with ARS. This can help confirm the diagnosis and provide information about the inheritance pattern.



Additional Evaluations


Since Axenfeld-Rieger Syndrome can affect other parts of the body, additional evaluations may be necessary. These may include cardiac evaluations, hearing tests, and imaging studies to assess the development of other organs.



Conclusion


Diagnosing Axenfeld-Rieger Syndrome involves a thorough evaluation of the patient's medical history, physical examination, and specialized tests. Identifying the characteristic ocular and facial features, along with genetic testing, can help confirm the diagnosis. Early diagnosis is crucial for appropriate management and monitoring of the condition, as well as for genetic counseling and family planning.


Diseasemaps
3 answers
Geneticist or ophthalmologist.

Posted Mar 11, 2017 by Missy 1050
Physical symptoms at birth include narrow, slanted pupils and herniated embykical chord (outie).
There are genetic tests I hear.
You will need a team to manage treatment, best to see a glaucoma doctor early and refer to a surgeon. I the States there are several clinics in major cities.

Posted Mar 16, 2017 by Steve 1000

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