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Effect of light and diurnal variation on macular thickness in X-linked retinoschisis: a case series

  • Retinal Disorders
  • Published:
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Abstract

Background

Diurnal variations in foveal thickness have been reported in several ocular pathologies including X-linked retinoschisis (XLRS), but its underlying mechanism is poorly understood. Rods are active under scotopic conditions with high metabolic demand, and its decrease may have positive effect on metabolic activity and macular thickness. The purpose of this study is to evaluate whether exposure to light and diurnal variation influence macular thickness in XLRS patients.

Methods

Five patients with clinical suspicion of XLRS underwent RS1 gene sequencing and optical coherence tomography measurements at three consecutive times: morning following sleep in a dark room, morning following sleep in an illuminated room, and late afternoon following sleep in an illuminated room. Central macular thickness (CMT) was compared between measurements, and molecular analysis was performed.

Results

Five RS1 mutations were identified: p.Gly140Arg, p.Arg141Cys, p.Gly109Glu, p.Pro193Leu, and p.Arg200His in patients 1–5, respectively. Two patients (4–5) had atrophied macula and were excluded from macular thickness variation analysis. A significant decrease in CMT between morning and afternoon measurements was observed in all patients (1–3: mean: 455.0 ± 32 μm to 342.17 ± 39 μm, 25%). Morning measurements following sleep in an illuminated room show a CMT reduction in all eyes of all patients with a mean reduction of 113 μm (mean: 547.17 ± 105 μm to 455.0 ± 32 μm, 17%).

Conclusions

Among XLRS patients, CMT decreased at the afternoon compared to the morning of the same day and may be reduced following sleep in an illuminated room. These results help shed light on the pathophysiologic process underlying intraretinal fluid accumulation involved with the disease.

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Funding

This study was supported by the Claire and Amedee Maratier Institute for the Study of Blindness and Visual Disorders; The Hirsh and Genia Wasserman, The Medical Research Fund and Ernest And Nusia Gothelf research funds, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. This work was also supported in part by grant no. 7205 from the Chief Scientist Office of the Ministry of Health, Israel; “Lirot” Association and the Consortium for Mapping Retinal Degeneration Disorders in Israel.

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Authors and Affiliations

  1. Department of Ophthalmology, Shamir Medical Center (formerly Assaf Harofeh Medical Center), Zerifin, Israel

    Yair Rubinstein, Noa Chetrit, Idan Hecht, Nadav Shoshany & Eran Pras

  2. Matlow’s Ophthalmogenetic Laboratory, Department of Ophthalmology, Shamir Medical Center (formerly Assaf Harofeh Medical Center), Zerifin, Israel

    Yair Rubinstein, Chen Weiner, Nadav Shoshany & Eran Pras

  3. Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Chen Weiner, Hadas Newman, Idan Hecht & Eran Pras

  4. Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

    Hadas Newman

Authors
  1. Yair Rubinstein
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  2. Chen Weiner
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  3. Noa Chetrit
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  4. Hadas Newman
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  5. Idan Hecht
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  6. Nadav Shoshany
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  7. Eran Pras
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Correspondence to Idan Hecht.

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All authors declare that they have no conflict of interest.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the Shamir Medical Center Research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Rubinstein, Y., Weiner, C., Chetrit, N. et al. Effect of light and diurnal variation on macular thickness in X-linked retinoschisis: a case series. Graefes Arch Clin Exp Ophthalmol 258, 529–536 (2020). https://doi.org/10.1007/s00417-019-04578-7

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  • DOI: https://doi.org/10.1007/s00417-019-04578-7

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