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Bilateral Macular Schisis in a Woman

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 64-year-old woman in excellent general health who was not taking any medications was referred for evaluation of an epiretinal membrane of her right eye. She reported no blurry vision, metamorphopsia, photopsias, floaters, or nyctalopia, and she had no history of refractive surgical procedures, ocular surgical procedures, or trauma. Her family history was negative for ocular conditions, and there was no consanguinity in her family.

Her visual acuity was 20/20 OU with correction (plano +0.25 × 153 OD and −0.50 + 0.25 × 009 OS). External and anterior segment examination results were unremarkable except for mild nuclear sclerotic cataracts. Results of a dilated ophthalmoscopic examination showed radial spokelike striae of the fovea, with a central cyst in the right eye and macular edema of the left eye. Optical coherence tomography (OCT) imaging of the right macula showed cystlike changes in the outer retina in the foveal and parafoveal regions and in the inner retina in the temporal macula. Optical coherence tomography imaging of the left macula showed cystlike changes in the outer retina in the inferior macula (Figure). Of note, OCT scans of the optic nerves did not reveal an optic disc pit.

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Stellate nonhereditary idiopathic foveomacular retinoschisis

A. Order an electroretinogram

We present a case of a 64-year-old woman with no ocular history and a negative family history. The OCT imaging showed schisis primarily of the outer retina that was consistent with bilateral stellate foveomacular retinoschisis.

The most appropriate next step is to order an electroretinogram (ERG) (choice A) to rule out congenital juvenile X-linked retinoschisis (CXLR), which is caused by a variation in the RS1 gene (OMIM 300839). Congenital juvenile X-linked retinoschisis typically has an electronegative ERG but can be variable and even normal in some patients. Congenital juvenile X-linked retinoschisis is most commonly found in males; however, there are reports of females with this disease due to lyonization or homozygosity.1,2 This patient was unlikely to be a carrier because she did not have white flecks in the periphery on fundus examination and had a negative family history. The patient’s ERG was unremarkable in both eyes. Performing pars plana vitrectomy (choice B) and prescribing antivascular endothelial growth factor therapy (choice C) would not be the preferred answer because they are not proven to benefit patients with stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR). Both are inappropriate as the next step in management of this patient. Prescribing topical prednisolone or ketorolac therapy (choice D) was not indicated because the cystic areas were from retinoschisis and not cystoid macular edema.

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Article Information

Corresponding Author: Jennifer I. Lim, MD, Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, 1855 W Taylor St, Ste 2.50, Mail Code 648, Chicago, IL 60612 (jennylim@uic.edu).

Published Online: May 27, 2021. doi:10.1001/jamaophthalmol.2020.5292

Conflict of Interest Disclosures: Dr Lim reported receiving grants from Aldeyra, Chengdu, Clearside, Genentech, Graybug, Janssen, NGM, Regeneron, and Stealth and personal fees from Alcon, Allergan, Aura Biosciences, Cognition Therapeutics, Eyenuk, Genentech, Iveric Biosciences, Kodiak, Luxa, Novartis, Ophthea, pSivida (now EyePoint Pharmaceuticals, Inc), Quark, and Santen outside of the submitted work.

Disclaimer: Dr Lim is an Associate Deputy Editor of JAMA Ophthalmology, but she was not involved in any of the decisions regarding review of the manuscript or its acceptance.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
1.
Booth  AP , Trump  D , George  ND .  A manifesting female heterozygote in X-linked retinoschisis: clinical and genetic study.   Invest Ophthalmol Vis Sci. 2003;44(13):1484. Association for Research in Vision and Ophthalmology abstract. Accessed April 18, 2021. https://iovs.arvojournals.org/article.aspx?articleid=2413312Google Scholar
2.
Rodríguez  FJ , Rodríguez  A , Mendoza-Londoño  R , Tamayo  ML .  X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation.   Retina. 2005;25(1):69-74. doi:10.1097/00006982-200501000-00010 PubMedGoogle ScholarCrossref
3.
Agarwal  A . Heredodystrophic disorders affecting the pigment epithelium and retina. In: Gass JDM, ed.  Gass’ Atlas of Macular Diseases. Vol 1. Elsevier Saunders; 2012:239-436. Accessed May 23, 2020. https://www.scienceopen.com/document?vid=f18305ee-7daf-4504-a71d-c26591452644
4.
Ober  MD , Freund  KB , Shah  M ,  et al.  Stellate nonhereditary idiopathic foveomacular retinoschisis.   Ophthalmology. 2014;121(7):1406-1413. doi:10.1016/j.ophtha.2014.02.002 PubMedGoogle ScholarCrossref
5.
Casalino  G , Upendran  M , Bandello  F , Chakravarthy  U .  Stellate nonhereditary idiopathic foveomacular retinoschisis concomitant to exudative maculopathies.   Eye (Lond). 2016;30(5):754-757. doi:10.1038/eye.2016.17 PubMedGoogle ScholarCrossref
6.
Ansel  T , Weinberg  B , Shenouda-Awad  N . Splitting of differentials: a new type of foveal retinoschisis. American Academy of Optometry. Accessed April 18, 2021. https://www.aaopt.org/docs/knowledge-base/tobin-ansel.pdf?sfvrsn=d45c4e36_0
7.
Ajlan  RS , Hammamji  KS .  Stellate nonhereditary idiopathic foveomacular retinoschisis: response to topical dorzolamide therapy.   Retin Cases Brief Rep. 2019;13(4):364-366. doi:10.1097/ICB.0000000000000599PubMedGoogle Scholar
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