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Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
Multimodal assessment of choroideremia patients defines pre-treatment characteristics
Immanuel P Seitz1,2, Ahmad Zhour1, Susanne Kohl2
1University Eye Hospital, University of Tübingen, Tübingen, Germany.
Purpose:
Choroideremia (CHM) is a X-chromosomal disorder leading to blindness by progressive degeneration of choroid, retinal pigment epithelium (RPE), and retinal neurons. A current clinical gene therapy trial (NCT01461213) showed promising safety and efficacy data in a carefully selected patient population. The present study was performed to shed light on pre-treatment characteristics of a larger cohort of CHM patients using a high resolution multi-modal approach.
Methods:
In a retrospective cross-sectional study, data from 58 eyes of 29 patients with clinically confirmed CHM were analysed including best-corrected visual acuity (BCVA), refractive error, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), perimetry, and tonometry. Residual retinal volume, area of residual RPE, and foveal thickness were quantified to further define natural disease progression and assess symmetry.
Results:
We evaluated 98 data points of BCVA [0.34 ± 0.06 (logMAR); mean ± 95 % confidence interval], 80 of IOP (14.6 ± 0.6 mmHg), and 98 of refraction (-2.16 ± 1.08 spherical equivalent). Visual fields (n = 76) demonstrated variable degrees of concentric constriction (54 % <10°, 25 % 10-30°, 21 % >30°). Mean residual RPE area on FAF (n = 64) measured 8.47 ± 1.91 mm(2) (range 0.30-38.5 mm(2)), while mean neuroretinal volume (n = 42) was found to be 1.76 ± 0.12 mm(3). Age at examination was exponentially associated with BCVA, while logarithmic functions best described progressive loss of retinal area and volume. A high degree of left to right symmetry was found in all modalities with structural markers showing the best correlation (r (2) area = 0.83; r (2) volume = 0.75).
Conclusion:
Analysis of these widely available clinical data defines the natural disease characteristics of a relevant patient population eligible for gene therapeutic intervention. In the wake of preliminary reports on safety and efficacy of CHM gene therapy (NCT01461213), this multi-modal assessment of a cohort of CHM patients provides important evidence of the natural rate of disease progression and degree of symmetry between eyes.
Insights
Choroideremia (CHM) is an X-linked condition causing blindness. This study characterized disease progression in a larger patient cohort, finding significant symmetry between eyes and providing data for gene therapy eligibility.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Choroideremia (CHM) is a progressive X-linked retinal degeneration leading to blindness.
- Gene therapy trials show promise, necessitating a deeper understanding of natural disease progression.
- Pre-treatment characterization is crucial for patient selection and outcome assessment in CHM clinical trials.
Purpose of the Study:
- To characterize the pre-treatment natural history of Choroideremia (CHM) in a larger patient cohort.
- To utilize a high-resolution multi-modal imaging approach to define disease characteristics.
- To provide data for assessing eligibility and outcomes in gene therapeutic interventions for CHM.
Main Methods:
- Retrospective cross-sectional analysis of 58 eyes from 29 clinically confirmed CHM patients.
- Multi-modal assessment including best-corrected visual acuity (BCVA), refractive error, SD-OCT, FAF, perimetry, and tonometry.
- Quantification of residual retinal volume, RPE area, and foveal thickness to assess disease progression and symmetry.
Main Results:
- Evaluated BCVA, intraocular pressure (IOP), and refraction across the cohort.
- Visual fields showed variable concentric constriction; mean residual RPE area and neuroretinal volume were quantified.
- Age correlated exponentially with BCVA; logarithmic functions described retinal area and volume loss. High symmetry was observed between eyes, particularly in structural markers.
Conclusions:
- This multi-modal analysis defines the natural disease characteristics of CHM patients eligible for gene therapy.
- The findings provide crucial evidence on the rate of disease progression and inter-eye symmetry.
- The data supports the ongoing evaluation of gene therapy for Choroideremia.
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