Blue-Eyed Asian: A Case Report of Waardenburg Syndrome Type 1
Kris Zanna B. Acluba
Department of Ophthalmology and Visual Sciences, Philippine General Hospital, University of the Philippines Manila, Taft, Avenue, Manila, Philippines
Archimedes L. D. Agahan *
Department of Ophthalmology and Visual Sciences, Philippine General Hospital, University of the Philippines Manila, Taft, Avenue, Manila, Philippines and iSight Vision Center, Quezon Avenue corner Timog Avenue, Quezon City, Philippines
*Author to whom correspondence should be addressed.
Abstract
Aims: To report a case of Waardeenburg Syndrome Type 1 presenting with bilateral blue iris in a young Asian.
Presentation of Case: A 7-year old Filipino girl was referred for ophthalmologic evaluation for bilateral blue eyes. She also presented with an eyebrow flare, broad nasal root, dystopia canthorum, heterochromic fundi and mild hearing loss. Her medical, developmental and family histories were unremarkable.
Discussion: Waardenburg Syndrome is a rare clinical disorder with oculocutaneous pigmentary anomalies, deafness and dystopia canthorum as major features. Diagnosed clinically using a Consortium criteria, this is one of the differential diagnoses when presented with a patient with bilateral blue eyes. There have been reports of this disorder in Asia but there are no known published articles or cases from the Philippines.
Conclusion: This is the first reported case of Waardenburg Syndrome in the country. This case presented with an atypical combination of bilateral blue eyes and heterochromic fundi in a young Asian girl.
Keywords: Waardenburg syndrome, blue iris, Pale blue eyes, heterochromic iris, heterochromic fundi, PAX gene, dystopia canthorum, hearing loss