Related Experiment Video
Updated: Oct 12, 2025
A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration
Published on: March 10, 2023
X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization
Michalis Georgiou1, Lucia Finocchio2, Kaoru Fujinami3
1Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
X-linked retinoschisis (XLRS) shows significant genetic and clinical variability. Despite this, foveal and visual acuity are often preserved until late adulthood, aiding prognostication for this slowly progressive condition.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- X-linked retinoschisis (XLRS) is a genetic disorder affecting vision.
- Understanding its genetic and clinical spectrum is crucial for patient management.
Purpose of the Study:
- To investigate the genetic and clinical characteristics of XLRS in pediatric and adult patients.
- To correlate genotype with phenotype and analyze disease progression.
Main Methods:
- Retrospective analysis of 132 male patients with molecularly confirmed XLRS.
- Evaluation of genetic variants, clinical findings, and retinal imaging (OCT, FAF).
- Cross-sectional and longitudinal assessment of disease features and progression.
Main Results:
- Identified 66 RS1 variants, including 7 novel ones, in 132 patients.
- Mean age of onset was 16.5 years; 94.7% were symptomatic with decreased visual acuity.
- Macular schisis was common (82.4%), with complications in 18.5%. Mean BCVA was 0.65 logMAR.
- OCT revealed foveoschisis (80%) and parafoveal schisis (79.5%); cystoid changes were noted in multiple retinal layers.
- Null variants correlated with worse BCVA and increased complications.
Conclusions:
- XLRS exhibits high phenotypic variability but often shows preserved foveal structure and visual acuity into adulthood.
- The slow disease progression complicates the identification of early endpoints for therapeutic trials.
- Findings aid in prognostication and understanding disease kinetics.
