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. 2023 Nov;261(11):3307-3313.
doi: 10.1007/s00417-023-06106-0. Epub 2023 Jun 9.

Diurnal functional and anatomical changes in X-linked retinoschisis

Luca Mautone  1 , Yevgeniya Atiskova  2 , Vasyl Druchkiv  2 , Martin Stephan Spitzer  2 , Simon Dulz  2
Affiliations

Diurnal functional and anatomical changes in X-linked retinoschisis

Luca Mautone et al. Graefes Arch Clin Exp Ophthalmol. 2023 Nov.

Abstract

Background: To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients.

Methods: Treatment-naïve patients with genetically verified XLRS underwent best-correlated visual acuity (BCVA) testing with ETDRS charts, spectral domain optical coherence tomography, and microperimetry (MP) twice a day, at 9 a.m. and 4 p.m., to measure changes in central retinal thickness (CRT), macular volume (MV), average threshold (AT), and fixation stability parameters (P1 and P2).

Results: At baseline, the BCVA of the 14 eyes of 8 patients amounted 0.73 (± 0.23) LogMAR. Between timepoints, the BCVA increased in 3.21 letters (p = .021), the AV improved in 1.84 dB (p = .03, 9.73%), the CRT decreased in 24.43 µm (p = .007, - 4.05%), and the MV dropped in 0.27 µm3 (p = .016, - 2.68%). P1 and P2 did not variate. The collapse of the MCS led to the reduction of macula thickness. CRT at baseline correlated with the decrease of CRT (Spearman's ρ: - 0.83 [p = .001]). Age and change of BCVA, CRT, and AV did not correlate among one another. Eyes with disrupted ellipsoid zone showed a more prominent change in CRT (p = .050). Photoreceptor outer segment length and integrity of the external limiting membrane and cone outer segment tips were not associated with BCVA, AT, or CRT variation.

Conclusion: Eyes of treatment-naïve XLRS patients show diurnal macular thickness and function changes. Eyes with pronounced macular thickness show a greater reduction of the MCS. These results should be taken into consideration in upcoming clinical trials in XLRS.

Trial registration number: Institutional Review Board of the Hamburg Medical Chamber (Ethik-Kommission der Ärztekammer Hamburg): 2020-10,328.

Keywords: Diurnal variation; Microperimetry; Optical coherence tomography; RS1 gene mutation; Retinoschisis; X-linked retinoschisis.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
A Change of the best-correlated visual acuity (BCVA) measured by read letters (y-axis). B Change of the average threshold (dB, y-axis). C Change of the fixation stability P1 (%, y-axis). D Change of the fixation stability P2 (%, y-axis). E Change of the central retinal thickness (CRT, µm, y-axis). F Change of the macular volume (µm.3, y-axis)
Fig. 2
Fig. 2
Patient #7, spectral-domain OCT (SD-OCT) of the left eye (A and B): central retinal thickness (CRT) 525 µm and macular volume (MV) 6.15 µm3 at 9 a.m. (A). CRT 479 µm and MV 5.83 µm3 at 4 p.m. (B). Patient #4, SD-OCT of the right eye (C and D). Central CRT 575 µm and MV 9.06 µm3 at 9 a.m. (C). CRT 527 µm and MV 8.79 µm.3 at 4 p.m. (D)
See this image and copyright information in PMC

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