Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

Mahsaw Mansoor; Razek Georges Coussa; Margaret R Strampe; Scott A Larson; Jonathan F Russell

doi:10.1016/j.ajoc.2023.101798

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

Am J Ophthalmol Case Rep. 2023 Jan 19:29:101798. doi: 10.1016/j.ajoc.2023.101798. eCollection 2023 Mar.

Authors

Mahsaw Mansoor¹, Razek Georges Coussa¹, Margaret R Strampe¹, Scott A Larson¹, Jonathan F Russell^{1

2}

Affiliations

¹ Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
² Institute for Vision Research, University of Iowa, Iowa City, IA, USA.

Abstract

Purpose: To describe a novel case of Norrie disease and X-linked Kabuki syndrome caused by a microdeletion encompassing multiple genes on the X chromosome.

Observations: A 3-day-old boy born at full term had bilateral retrolental fibrovascular plaques. Surgery with lensectomy and vitrectomy revealed bilateral, closed funnel retinal detachments consistent with a clinical diagnosis of Norrie disease. In addition, the baby had congenital heart defects, hearing loss, and dysmorphic facies. His mother carried a clinical diagnosis of Kabuki syndrome. Genetic testing of the baby revealed an Xp11.3 microdeletion that included the NDP and KDM6A genes, confirming the baby had both Norrie disease and X-linked Kabuki syndrome. The mother was found via ultrawide-field fluorescein angiography to have asymptomatic peripheral retinal vascular anomalies, consistent with NDP-associated familial exudative vitreoretinopathy (FEVR).

Conclusions and importance: This is the first reported case of Norrie disease together with X-linked Kabuki syndrome. Contiguous gene deletions may explain some of the variable systemic involvement in Norrie disease.

Keywords: KDM6A; Kabuki syndrome; Leukocoria; NDP; Norrie disease; Norrin; Retinal detachment; Vitrectomy.

Publication types

Case Reports