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

Abalem, Maria Fernanda; Musch, David C.; Birch, David G.; Pennesi, Mark E.; Heckenlively, John R.; Jayasundera, Thiran

doi:10.1080/13816810.2018.1466340

Cited by 8 publications

(6 citation statements)

References 36 publications

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“…Similar to the well-described diurnal variations of macular thickness in various retinal diseases with cystoid macular edema [3][4][5][6], two case reports showed the progressive reduction of macular thickness caused by the diminution of MCS during the day in XLRS patients treated with carbohydrase inhibitors (CAI) and that underwent light exposition during the sleep [7,8].…”

Section: Introductionsupporting

confidence: 55%

“…Previously, fluctuations of the macular thickness in XLRS patients at 6-month intervals were described [23]. However, the first evidence of diurnal reduction of macular thickness was reported in two small case series [7,8]. In this study, a mean CRT reduction of 4.05% was measured.…”

Section: Discussionmentioning

confidence: 60%

“…25%); yet, several differences in the study designs can explain this discrepancy. Contrary to Abalem et al and Rubinstein et al, patients treated with CAI were excluded, eyes with signs of macular atrophy in OCT were included, patients were not actively exposed to particular light conditions during the night, and a different amount of controls were performed different timepoints [7,8].…”

Section: Discussionmentioning

confidence: 99%

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Diurnal functional and anatomical changes in X-linked retinoschisis

Mautone

Atiskova

Druchkiv

et al. 2023

Graefes Arch Clin Exp Ophthalmol

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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.

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Section: Introductionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 99%

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Diurnal functional and anatomical changes in X-linked retinoschisis

Mautone

Atiskova

Druchkiv

et al. 2023

Graefes Arch Clin Exp Ophthalmol

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“…A hallmark of the XLRS is the splitting of the retina which frequently presents by ophthalmoscopy as a “spoke-wheel” pattern on the macula ( 3 , 4 ). These cavities are readily observed via optical coherence tomography (OCT) ( 5 ).…”

Section: Introductionmentioning

confidence: 99%

Longitudinal Photoreceptor Phenotype Observation and Therapeutic Evaluation of a Carbonic Anhydrase Inhibitor in a X-Linked Retinoschisis Mouse Model

Liu

Wang

et al. 2022

Front. Med.

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PurposeTo study the long-term photoreceptor changes and to evaluate the effects of topical application of a carbonic anhydrase inhibitor (CAI) in a mouse model of X-linked retinoschisis (XLRS).MethodsConventional electroretinograms (ERGs) and dark-adapted 10-Hz flicker ERGs were recorded in control and Rs1−/Y mice generated with CRISPR/Cas9. ON-pathway blocker 2-amino-4-phosphobutyric acid (APB) was injected intravitreally. Morphology was evaluated with histology and optical coherence tomography (OCT). Mice were treated with a CAI inhibitor brinzolamide eye drops (10 mg/ml) three times a day for 3 months. OCT and ERG findings at 1, 4, and 10 months were analyzed.ResultsNegative ERGs and retinal cavities were evident in Rs1−/Y mice. Both a-wave and b-wave amplitudes decreased with age when compared with age-matched controls. The APB-isolated a-wave (a′) amplitudes of Rs1−/Y mice were reduced in all age groups. In dark-adapted 10-Hz flicker ERG, the amplitude-intensity curve of Rs1−/Y mice shifted down. The thickness of ONL and IS/OS decreased in Rs1−/Y mice. CAI reduced the splitting retinal cavities but didn't affect the ERG.ConclusionsIn addition to post receptoral impairments, photoreceptor cells underwent progressive dysfunction since early age in Rs1−/Y mice. Long-term CAI treatment improved the shrinkage of the splitting retinal cavity, while no functional improvement was observed.

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“…This phenomenon was also observed in XLRS, with one case series showing changes of up to −43% from 9 am to 4 pm . 33 It remains unclear if these large changes in CST play any role in VA. Although this study did not control for diurnal variations in CST, future studies could consider controlling for this variable by obtaining OCT imaging at a specific time of day.…”

Section: Discussionmentioning

confidence: 99%

Topical Carbonic Anhydrase Inhibitors in the Long-Term Treatment of Juvenile X-Linked Retinoschisis

Schmitt

Wang

DeBenedictis

et al. 2022

Retina

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Purpose: To describe the response to long-term topical dorzolamide treatment in patients with juvenile X-linked retinoschisis and cystic-like foveal lesions.Methods: This was a retrospective interventional case series that included 18 eyes of 10 patients with genetically confirmed juvenile X-linked retinoschisis examined at the Cleveland Clinic Cole Eye Institute, a tertiary referral center, between 2005 and 2021. Patients were treated with topical 2% dorzolamide two to three times daily in both eyes. Two eyes were excluded because of retinal detachment. Primary outcome measures were logarithm of minimum angle of resolution visual acuity and optical coherence tomography based central subfield thickness.Results: The mean follow-up was 8.38 years (SD, 3.41 years). The mean baseline and final central subfield thickness was 429.88 mm (SD, 143.36 mm) and 372.28 mm, respectively (SD, 147.13 mm, P = 0.10). The mean baseline and final logarithm of minimum angle of resolution visual acuity was 0.45 (SD, 0.17) and 0.34, respectively (SD, 0.22, P , 0.01). None of the patients experienced any side effects from topical dorzolamide. Conclusion:The study data support previous reports of improved visual acuity in Xlinked retinoschisis patients on topical dorzolamide treatment. This is the longest follow-up for a series of juvenile X-linked retinoschisis patients treated with a topical carbonic anhydrase inhibitor to date. A large, prospective, randomized clinical trial is needed to provide stronger evidence regarding the efficacy of topical carbonic anhydrase inhibitors in juvenile X-linked retinoschisis.

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

Cited by 8 publications

References 36 publications

Diurnal functional and anatomical changes in X-linked retinoschisis

Diurnal functional and anatomical changes in X-linked retinoschisis

Longitudinal Photoreceptor Phenotype Observation and Therapeutic Evaluation of a Carbonic Anhydrase Inhibitor in a X-Linked Retinoschisis Mouse Model

Topical Carbonic Anhydrase Inhibitors in the Long-Term Treatment of Juvenile X-Linked Retinoschisis

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