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Year : 2020  |  Volume : 68  |  Issue : 10  |  Page : 2263

Swiss cheese retina

Vitreoretina Services, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Pondicherry, India

Date of Web Publication23-Sep-2020

Correspondence Address:
Dr. Manavi D Sindal
Vitreoretina Services, Aravind Eye Hospital, Thavalakuppam, Cuddalore Main Road, Pondicherry - 605 007
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_88_20

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How to cite this article:
Sindal MD, Arthi M. Swiss cheese retina. Indian J Ophthalmol 2020;68:2263

How to cite this URL:
Sindal MD, Arthi M. Swiss cheese retina. Indian J Ophthalmol [serial online] 2020 [cited 2023 Feb 8];68:2263. Available from: https://www.ijo.in/text.asp?2020/68/10/2263/295765

A 12-year-old boy presented with defective vision OU (OD 20/200, OS 20/40). Fundus examination OD revealed foveoschisis with multiple outer retinal holes with retinal detachment (RD) with subretinal gliotic bands [Figure 1]. OS had foveoschisis with vitreous veils. Optical coherence tomography confirmed foveoschisis. Full-field electroretinogram showed reduced b-wave with preserved a wave. Diagnosis of juvenile X-linked retinoschisis (JXLR) with RD was made.
Figure 1: Color fundus montage OD showing foveoschisis (black arrowhead), subretinal gliosis (white arrowhead) veil-like inner layer (red arrow), and multiple outer retinal holes (white arrow) with retinal detachment. Inset - OCT line scan through the macula OS showing foveoschisis

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JXLR is caused due to the mutations in the RS1 gene on Xp22.1 coding for retinoschisin.[1] The split occurs in the nerve fiber layer. Genetic trials with RS1 knockout mice have shown better b-wave function.[2]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Sikkink SK, Biswas S, Parry NRA, Stanga PE, Trump D. X-linked retinoschisis: An update. J Med Genet 2007;44:225-32.  Back to cited text no. 1
Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci 2007;48:3837-45.  Back to cited text no. 2


  [Figure 1]


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