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. 2018 Aug;39(4):437-442.
doi: 10.1080/13816810.2018.1466340. Epub 2018 Jun 14.

Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis

Maria Fernanda Abalem  1   2 , David C Musch  1   3 , David G Birch  4 , Mark E Pennesi  5 , John R Heckenlively  1 , Thiran Jayasundera  1
Affiliations

Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis

Maria Fernanda Abalem et al. Ophthalmic Genet. 2018 Aug.

Abstract

Background: To evaluate diurnal variations in macular schisis cavities in patients with X-linked juvenile retinoschisis (XLRS) with pathogenic variants in the RS1 gene using spectral-domain optical coherence tomography (SD-OCT).

Methods: Three consecutive patients with a clinical diagnosis of XLRS and pathogenic variants in the RS1, treated with carbonic anhydrase inhibitors (CAIs). Observational procedures: SD-OCT scans of the macula were acquired at 9 a.m., 1 p.m., and 4 p.m. within 24 h.

Results: All patients demonstrated increased measures of central foveal thickness in the morning with gradual decrease through the day (9-43%). Major changes were observed between 9 a.m. and 1 p.m. in the central foveal thickness.

Conclusion: The central foveal thickness varies during daytime hours in patients with XLRS. This finding may explain the inconsistent and heterogeneous responses to treatment with CAIs and necessitate standardization of measurement times in treatment trials for XLRS as well as in the routine ophthalmic evaluation of these patients.

Keywords: Genetics; X-linked; inherited retinal degenerations; macular edema; optical coherence tomography; retinoschisis.

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Conflict of interest statement

Disclosure Statement: The authors have nothing to disclose.

Figures

Figure 1
Figure 1
SD-OCT images of the right eye of patient #1 at 9 am (top), 1 pm (middle) and 4 pm (bottom). Note the presence of numerous and coalescent schisis cavities mostly in the fovea at 9am with gradual decrease in volume through the day.
Figure 2
Figure 2
Central foveal thickness of both eyes of the three patients at 9am, 1pm and 4pm.
See this image and copyright information in PMC

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