Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome

Abstract

Waardenburg syndrome was first described in 1951 by Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979). It is an auditory-pigmentary syndrome that results from a lack of melanocytes in the hair, skin, eyes, or stria vascularis of the cochlea. It accounts for more than 2% of congenitally deaf individuals [Indian J Otolaryngol Head Neck Surg. 2015 Sep;67(3):324-8]. Affected people usually have neurosensory hearing loss, forelock pigmentation loss, iris heterochromia, and medial canthus dystopia, and their first-degree relatives have the same features of this syndrome. The following is a report of an unusual and rare presentation of ocular findings in Waardenburg syndrome. A 25-year-old male presented for eye examination due to gradual loss of his left eye visual acuity over the last few years with characteristic features of Waardenburg syndrome along with high intraocular pressure (IOP), cataract, and retinal detachment (RD) in one eye.