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Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome
Journal article   Open access   Peer reviewed

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

Mahsaw Mansoor, Razek Georges Coussa, Margaret R. Strampe, Scott A. Larson and Jonathan F. Russell
American journal of ophthalmology case reports, Vol.29, 101798
03/2023
DOI: 10.1016/j.ajoc.2023.101798
PMCID: PMC9871737
PMID: 36703904
url
https://doi.org/10.1016/j.ajoc.2023.101798View
Published (Version of record) Open Access

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.

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