Abstract
253 Diurnal variation of cyst severity in a mouse model of X-linked retinoschisis
Journal of AAPOS, Vol.29(4), 104535
08/2025
DOI: 10.1016/j.jaapos.2025.104535
Abstract
Introduction
X-linked retinoschisis (XLRS) is a vitreoretinal disorder caused by a hemizygous mutation in the gene RS1. RS1 encodes for the protein retinoschisin, essential for adhesion and organization of retinal layers. Patients present with schisis of the retinal inner nuclear layer (INL) causing decreased central vision and an increased risk of retinal detachments and/or vitreous hemorrhage. Previous clinical observations show variation in schisis depending on the time of day. We explored this diurnal phenomenon in an Rs1 knockout mouse model (Rs1-KO).
Methods
Two cohorts of 5 Rs1-KO mice between 3-4 months old had optical coherence tomography (OCT) performed at 2 timepoints. Mice in cohort 1 were dark adapted 12 hours overnight, with timepoint 1 OCT at 5 AM in the dark. Timepoint 2 OCT was performed 84 hours later at 5 PM after 12 hours in the light. Cohort 2 followed the same experimental design but with 5AM OCT acquisition after 10 minutes in the light. Cyst area was measured via Photoshop.
Results
Cyst area was significantly smaller in the evening that in cohort 1, with a 70.30% reduction in cyst area. Cohort 2 followed a similar trend with a 65.60% reduction in cyst area from morning to evening.
Conclusion/Relevance
A mouse model of XLRS shows larger cyst areas in the morning after 12 hours of darkness than the evening after 12 hours of daylight, suggestive of a diurnal effect. This was not dependent on light conditions during OCT acquisition. These results suggest timing of OCT may be important in XLRS patients.
Details
- Title: Subtitle
- 253 Diurnal variation of cyst severity in a mouse model of X-linked retinoschisis
- Creators
- Sarah StanleySalma HassanTyler RankinJoseph LairdJacob ThompsonYing HsuArlene V. Drack
- Resource Type
- Abstract
- Publication Details
- Journal of AAPOS, Vol.29(4), 104535
- DOI
- 10.1016/j.jaapos.2025.104535
- ISSN
- 1091-8531
- Publisher
- Elsevier
- Language
- English
- Date published
- 08/2025
- Academic Unit
- Stead Family Department of Pediatrics; Biochemistry and Molecular Biology; Ophthalmology and Visual Sciences
- Record Identifier
- 9984964234902771
Metrics
1 Record Views