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Macular Features in X-Linked Retinoschisis Patients
Michael Y Zhao1, Joseph D Pecha1, Lauren C Kiryakoza1
1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Health System, Florida, USA.
American Journal of Ophthalmology
|July 18, 2026
Summary
X-linked retinoschisis (XLRS) shows varied macular features on OCT and fundus photography, with cystoid spaces common. Unilateral findings are frequent, highlighting the need for careful evaluation of asymmetric disease.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- X-linked retinoschisis (XLRS) is a genetic retinal disorder.
- Macular abnormalities are a hallmark of XLRS.
- Understanding imaging features is crucial for diagnosis and management.
Purpose of the Study:
- To determine the frequency and prevalence of macular features in XLRS.
- To analyze these features using optical coherence tomography (OCT) and fundus photography.
- To investigate inter-eye asymmetry in XLRS manifestations.
Main Methods:
- Retrospective case series of 33 male patients with genetically confirmed XLRS.
- Independent grading of OCT and fundus images by two masked reviewers.
- Assessment of features including schisis, cystoid spaces, atrophy, and patterns like spoke-wheel.
Main Results:
- Cystoid spaces occurred in 100% of eyes; macular schisis in 87.5%.
- Macular atrophy was seen in 20.8% of eyes, often unilateral.
- Fundus photography revealed retinal folds (57.9%) and spoke-wheel patterns (54.5%).
Conclusions:
- XLRS exhibits phenotypic variability, including significant unilateral findings.
- Systematic OCT and fundus feature characterization aids in recognizing asymmetric disease.
- This analysis can guide genetic testing and further retinal evaluation.
