A case of waardenburg syndrome type 2 in an Indian individual presenting with an unusual pattern of fundus pigmentation and its correlation with choroidal thickness

Abstract

Background: Waardenburg syndrome is a rare genetic disorder due to abnormalities of neural crest derivatives. The Case:We describe a male patient showing constellation of hearing loss, hypoplastic blue iridis, dystopia can thorum and broad nasal root and ocular fundus pigmentary disturbances associated with changes in choroidal thickness. Patient has also has a positive family history. Conclusion: It’s important to be aware of genetic inheritance and phenotype variants of Waardenburg syndrome.