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Journal of Case Reports
Variable Phenotype Expressions among Axenfeld- Rieger Syndrome Family Members Harboring Mutation in Same Genetic Loci

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Gautam Lokdarshi, Bhagabat Nayak, Anuradha Chandra
Dr. R. P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Corresponding Author:
Dr. Gautam Lokdarshi
Email: gdarshiaiims@gmail.com
Received: 20-JAN-2015 Accepted: 27-MAR-2015 Published Online: 25-APR-2015
DOI: http://dx.doi.org/10.17659/01.2015.0044
Abstract
Phenotype and karyotype analysis of family members of Axenfeld-Rieger syndrome (ARS) were conducted. Although all affected members showed similar translocation involving chromosome 4q, clinical presentations were variable among family members. 
Keywords : Axenfeld-Rieger syndrome, Phenotype, Karyotype, Eye Abnormalities, Anterior Eye Segment.
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