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

Yahya Al-Najmi; Maram E A Abdalla Elsayed; Khalid Alsaggaf; Albatool Alghamdi; Mohammed Albeedh

doi:10.1159/000529278

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

Case Rep Ophthalmol. 2023 May 12;14(1):203-208. doi: 10.1159/000529278. eCollection 2023 Jan-Dec.

Authors

Yahya Al-Najmi¹, Maram E A Abdalla Elsayed², Khalid Alsaggaf³, Albatool Alghamdi⁴, Mohammed Albeedh¹

Affiliations

¹ Ophthalmology Department, Saggaf Eye Center, Jeddah, Saudi Arabia.
² Ophthalmology Department, Jeddah Eye Hospital, Jeddah, Saudi Arabia.
³ Ophthalmology Department, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
⁴ Clinical Sciences Department, Ibn Sina National College, Jeddah, Saudi Arabia.

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.

Keywords: Cataract; Glaucoma; Retinal detachment; Waardenburg syndrome.

Publication types

Case Reports

Grants and funding

The authors did not receive any funding.