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PHOTO ESSAY
Year : 2017  |  Volume : 65  |  Issue : 8  |  Page : 738-740

Nasal involvement in X-linked retinoschisis


Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All Institute of Medical Sciences, New Delhi, India

Date of Submission04-Nov-2016
Date of Acceptance07-Jul-2017
Date of Web Publication18-Aug-2017

Correspondence Address:
Vinod Kumar
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_849_16

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  Abstract 


Keywords: Swept source optical coherence tomography, ultra-wide field imaging, X-linked retinoschisis


How to cite this article:
Kumar V. Nasal involvement in X-linked retinoschisis. Indian J Ophthalmol 2017;65:738-40

How to cite this URL:
Kumar V. Nasal involvement in X-linked retinoschisis. Indian J Ophthalmol [serial online] 2017 [cited 2020 May 26];65:738-40. Available from: http://www.ijo.in/text.asp?2017/65/8/738/213266



An 11-years-old male presented with steadily decreasing vision over 5 years. The best-corrected visual acuity was 20/100 right eye (OD) and 20/200 left eye (OS). Family history and anterior segment examination in both eyes (OU) were unremarkable. Dilated fundus examination OU revealed foveal schisis with typical cartwheel appearance at macula and inferotemporal retinal schisis reaching up to the inferotemporal vascular arcades [Figure 1]a and [Figure 1]b. The macula was displaced superiorly in OD. Swept-source optical coherence tomography (OCT, Topcon Inc.,) confirmed the presence of cystoid spaces separated by vertical pillars of retinal tissue suggestive of retinoschisis in the inner nuclear layer [Figure 2]a and [Figure 2]b in the macular area OU. The height of foveal schisis was greater in OS, explaining the worse visual acuity in that eye. Due to poor visual acuity, the patient had eccentric fixation OU in the area nasal to the fovea. The 12 mm long radial scans (covering almost 50° of retina) thus captured the area nasal to the optic disc as well. Interestingly, the retinoschisis extended to the area nasal to the disc as well [Figure 2]a and [Figure 2]b. A full-field electroretinogram showed selectively reduced b-wave amplitude, confirming the diagnosis of X-linked retinoschisis (XLRS). The patient was advised low vision aids and regular follow-up.
Figure 1: Ultra-wide-field color photograph of the right (a) and the left eye (b) showing macular cartwheel appearance and inferotemporal retinoschisis. The macula is displaced superiorly in the right eye

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Figure 2: The 12 mm long radial swept-source optical coherence tomography scans of the right (a) and the left eye (b) show prominent inner nuclear layer schisis in the area nasal to the optic disc in addition to the foveal retinoschisis

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  Discussion Top


The macular schisis in XLRS involves deeper and multiple layers, the most commonly affected being inner nuclear layer.[1] In contrast, the inferotemporal schisis usually occurs in the superficial retina. The macular schisis in XLRS is more extensive in its distribution when assessed with OCT as compared to clinical examination and may extend up to the vascular arcades or even beyond.[2],[3] Gregori et al. recently used montage technique for spectral domain OCT to create wide-field OCT and reported that schisis may extend outside of macula near the arcades.[3] Two out of 11 eyes in their series had small cystoid spaces in the inner and outer nuclear layer nasal to optic disc. The present case,

however, had prominent retinoschisis involving the inner nuclear layer in the area nasal to optic disc. Although nasal and peripapillary retinoschisis have been demonstrated in patients with glaucoma, involvement of nasal retina is not well known in XLRS.[4],[5]

XLRS is caused by mutations in RS1 gene, which encodes a protein complex – retinoschisin. Retinoschisin functions as a cell adhesion protein.[6] Mutations of RS1 disrupt subunit assembly of protein structure and cause XLRS. The reason for selective involvement of macula and inferotemporal retina, however, is not known. This case highlights that retinal involvement may not be restricted to one sector and may be more diffuse.

Ultra-wide-field imaging (Optos Inc.) is a useful tool in the assessment and documentation of pediatric peripheral retinal disorders.[7] It is an excellent tool for documenting the progression of peripheral changes since such patients frequently have poor vision and are unable to cooperate in the generation of montage images.

To conclude, this case highlights the utility of wide-field imaging in better phenotypic characterization of XLRS and may help us gain a better understanding of the disease in the future.

Acknowledgments

The author would like to thank Mr. Kabiruddin Molla for his time and help in imaging.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Brucker AJ, Spaide RF, Gross N, Klancnik J, Noble K. Optical coherence tomography of X-linked retinoschisis. Retina 2004;24:151-2.  Back to cited text no. 1
    
2.
Urrets-Zavalía JA, Venturino JP, Mercado J, Urrets-Zavalía EA. Macular and extramacular optical coherence tomography findings in X-linked retinoschisis. Ophthalmic Surg Lasers Imaging Retina 2007;38:417-22.  Back to cited text no. 2
    
3.
Gregori NZ, Lam BL, Gregori G, Ranganathan S, Stone EM, Morante A, et al. Wide-field spectral-domain optical coherence tomography in patients and carriers of X-linked retinoschisis. Ophthalmology 2013;120:169-74.  Back to cited text no. 3
    
4.
Hubschman JP, Reddy S, Kaines A, Law S. Nasal retinoschisis associated with glaucoma. Ophthalmic Surg Lasers Imaging 2010:1-4. [doi: 10.3928/15428877-20100215-60].  Back to cited text no. 4
    
5.
Ornek N, Büyüktortop N, Ornek K. Peripapillary and macular retinoschisis in a patient with pseudoexfoliation glaucoma. BMJ Case Rep 2013;2013. pii: Bcr2013009469.  Back to cited text no. 5
    
6.
Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 2001;42:816-25.  Back to cited text no. 6
    
7.
Tsui I, Franco-Cardenas V, Hubschman JP, Schwartz SD. Pediatric retinal conditions imaged by ultra wide field fluorescein angiography. Ophthalmic Surg Lasers Imaging Retina 2013;44:59-67.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2]



 

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