Yair Rubinstein1,2, Chen Weiner2,3, Noa Chetrit1, Hadas Newman3,4, Idan Hecht5,6, Nadav Shoshany1,2, Eran Pras1,2,3. 1. Department of Ophthalmology, Shamir Medical Center (formerly Assaf Harofeh Medical Center), Zerifin, Israel. 2. Matlow's Ophthalmogenetic Laboratory, Department of Ophthalmology, Shamir Medical Center (formerly Assaf Harofeh Medical Center), Zerifin, Israel. 3. Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 4. Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. 5. Department of Ophthalmology, Shamir Medical Center (formerly Assaf Harofeh Medical Center), Zerifin, Israel. idanhe@gmail.com. 6. Sackler faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. idanhe@gmail.com.
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.
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 XLRSpatients. 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 XLRSpatients, 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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