Ann Lab Med.  2019 Jan;39(1):109-112. 10.3343/alm.2019.39.1.109.

A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

• Lee ES
• Jang MA
• Kim HD
• Park JE
• Kim JW
• Ohn YH

• KMID: 2420282
• DOI: http://doi.org/10.3343/alm.2019.39.1.109

Abstract

No abstract available.

MeSH Terms

Humans
Retinoschisis*

Figure

• 

  Fig. 1 A family affected by a novel pathogenic variant in RS1. (A) Pedigree of the family showing two related cases of XLRS. The arrow indicates the patient. A black symbol indicates clinically affected family members. (B) Fundus photograph showing typical wheel-like maculopathy (arrows). (C) Spectral domain optical coherence tomography showing marked retinoschisis in different retinal layers. (D) ERG showing reduced amplitude of b waves in both eyes, which is a key feature of XLRS. (E) A hemizygous pathogenic variant of c.362delA (p.Gln121ArgfsTer5) in RS1 was identified by Sanger sequencing. (F) Mutational landscape of RS1 in Koreans. The site of the pathogenic frameshift variant we described is indicated above the bar. Sites of previously reported pathogenic variants observed in Korean studies are indicated below the bar [345].Abbreviations: XLRS, X-linked retinoschisis; ERG, electroretinogram.

Reference

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