A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

Jennifer Kirkby; Stephanie Halford; Morag Shanks; Anthony Moore; Anthony Gait; Lucy Jenkins; Penny Clouston; Chetan K Patel; Susan M Downes

doi:10.3390/genes14061193

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

Genes (Basel). 2023 May 29;14(6):1193. doi: 10.3390/genes14061193.

Authors

Jennifer Kirkby¹, Stephanie Halford², Morag Shanks³, Anthony Moore^{4

5

6}, Anthony Gait⁷, Lucy Jenkins⁷, Penny Clouston³, Chetan K Patel¹, Susan M Downes^{1

2}

Affiliations

¹ Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
² Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK.
³ Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
⁴ UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
⁵ Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
⁶ Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94158, USA.
⁷ Rare & Inherited Disease Genomic Laboratory, Great Ormond Street for Children NHS Foundation Trust, London WC1N 3JN, UK.

Abstract

X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS.

Keywords: X-inactivation; X-linked retinoschisis; carrier; female; heterozygous.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Eye Proteins / genetics
Female
Humans
Phenotype
Retina / pathology
Retinoschisis* / genetics
Retinoschisis* / pathology
X Chromosome Inactivation / genetics

Substances

Eye Proteins
RS1 protein, human

Grants and funding

This research was supported by CRN-NIHR Oxfordshire Thames Valley/South Midlands.