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

Author:

Kirkby Jennifer1,Halford Stephanie2ORCID,Shanks Morag3,Moore Anthony456,Gait Anthony7,Jenkins Lucy7,Clouston Penny3,Patel Chetan K.1,Downes Susan M.12ORCID

Affiliation:

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.

Funder

CRN-NIHR Oxfordshire Thames Valley/South Midlands

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Positional cloning of the gene associated with X-linked juvenile retinoschisis;Sauer;Nat. Genet.,1997

2. X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms;Molday;Prog. Retin. Eye Res.,2012

3. Visual acuity in 183 cases of X-chromosomal retinoschisis;Forsius;Can. J. Ophthalmol.,1973

4. X-linked retinoschisis: An update;Sikkink;J. Med. Genet.,2007

5. Clinical Features in Affected Males With X-Linked Retinoschisis;George;Arch. Ophthalmol.,1996

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