Asymmetric Phenotype in Axenfeld-Rieger Syndrome
Author Information
Author(s): Simon K. Law, Maha Piri Natik, Anne L. Coleman, Joseph Caprioli
Primary Institution: Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, CA
Hypothesis
Does the anterior segment phenotype of Axenfeld-Rieger syndrome show asymmetry between the two eyes?
Conclusion
The study found that variability in phenotype may occur between the two eyes of an individual affected by Axenfeld-Rieger syndrome.
Supporting Evidence
- Eight patients with Axenfeld-Rieger syndrome were identified from over 5,000 screened.
- One patient had an asymmetric phenotype with Axenfeld-Rieger anomaly in one eye and aniridia in the other.
- A novel mutation in the PITX2 gene was identified in the patient with the asymmetric phenotype.
Takeaway
Some people with Axenfeld-Rieger syndrome can have different eye problems in each eye, which is unusual.
Methodology
The study reviewed medical records of patients with Axenfeld-Rieger syndrome and compared the anterior segment characteristics of both eyes.
Limitations
The study is based on a small sample size and retrospective data.
Participant Demographics
The study included eight patients with Axenfeld-Rieger syndrome from a tertiary glaucoma practice.
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