Question: What is (are) Axenfeld-Rieger syndrome type 1 ?
Answer: Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. Click here to view a diagram of the eye. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.
Source: GARD

Question: What are the symptoms of Axenfeld-Rieger syndrome type 1 ?
Answer: What are the signs and symptoms of Axenfeld-Rieger syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Posterior embryotoxon 90% Glaucoma 50% Hearing impairment 50% Malar flattening 50% Abnormality of the hypothalamus-pituitary axis 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Telecanthus 7.5% Urogenital fistula 7.5% Abnormality of the abdominal wall - Abnormally prominent line of Schwalbe - Anal atresia - Anal stenosis - Aniridia - Autosomal dominant inheritance - Growth hormone deficiency - Hypodontia - Hypoplasia of the iris - Hypoplasia of the maxilla - Hypospadias - Megalocornea - Microcornea - Polycoria - Prominent supraorbital ridges - Rieger anomaly - Short philtrum - Strabismus - Variable expressivity - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: How to diagnose Axenfeld-Rieger syndrome type 1 ?
Answer: Is genetic testing available for Axenfeld Rieger syndrome? The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. To view the clinical laboratories conducting testing click here.
Source: GARD

Question: What are the treatments for Axenfeld-Rieger syndrome type 1 ?
Answer: Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye disorders. The American Association of Eye and Ear Centers of Excellence provides a list of member clinics and the Eye Research Network provides a list of eye research facilities that may be helpful as you search for clinics. Click on the links to view the lists. Please note that the lists are not exhaustive of all specialty and research eye clinics within the United States or abroad.
Source: GARD