Open AccessWaardenburg syndrome with dry eyes: A rare association
Author(s) -
Shrinkhal,
Anupam Singh,
Sanjeev Mittal,
Ajai Agrawal,
Rupal Verma,
Preeti Yadav
Publication year - 2019
Publication title -
taiwan journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.519
H-Index - 9
eISSN - 2211-5072
pISSN - 2211-5056
DOI - 10.4103/tjo.tjo_103_18
Subject(s) - medicine , waardenburg syndrome , fundus (uterus) , ophthalmology , dry eyes , dermatology , iris (biosensor) , dry skin , sensorineural hearing loss , hearing loss , audiology , biochemistry , chemistry , computer security , computer science , biometrics , gene , phenotype
Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and nasal secretion production since birth. She was also deaf and dumb since birth. On examination, it was recognized as an atypical case of WS type 2 clinically, with several classical features such as white forelock, bilateral blue iris, hypopigmented fundus, smooth philtrum, bilateral profound hearing loss, and a rare association of bilateral dry eyes. The patient was given proper refractive correction, treatment of her dry eyes, and subjected to multidisciplinary approach as for the management of sensorineural hearing loss. It was a case of WS type 2 with a rare association of bilateral dry eyes.