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Waardenburg Syndrome: A Report of Two Familial Case Series

Author(s): Safal Khanal, BOptom | Pragati Gautam, MD | Nabin Paudel, BOptom

Journal: Optometry & Visual Performance
ISSN 2325-3479

Volume: 1;
Issue: 6;
Start page: 213;
Date: 2013;
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Keywords: albinotic fundus | dystopia canthorum | heterochromia iridis | sensorineural deafness | Waardenburg syndrome

Background: Waardenburg syndrome is a rare autosomally-inherited developmental disorder characterized by sensorineural deafness in association with pigmentary anomalies comprising various ocular features including dystopia canthorum, iris heterochromia, eyebrow flare, and fundus alterations. It is a congenital non-progressive genetic disorder that has been found to result in hearing loss, reduced vision, reduced self esteem, problems related to appearance, and decreased intellectual functioning.Case Reports: We report two familial case series that presented with the characteristic ocular findings and the systemic features of Waardenburg syndrome. The first series comprised a 32-year-old father with his two sons aged nine and six years. Two female siblings, aged 10 and eight years, both with cochlear implants, were included in the second series.Conclusion: Waardenburg syndrome manifests differently with dissimilar genetic penetration even within the same family. Some individuals will require no treatment, while others may need treatment or surgery for other abnormalities. Appropriate measures can be undertaken to negotiate the disabilities resulting from the ocular conditions associated with this syndrome.
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