Waardenburg syndrome with dry eyes: A rare association

Taiwan Journal of Ophthalmology

关键词: Blue iris;    dry eye;    Waardenburg syndrome;    white forelock;   

DOI  :  10.4103/tjo.tjo_103_18

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown