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Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches
Ahmed M Hagag1,2, Andreas Mitsios1,2, Akshay Narayan2
1Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Eye (London, England)
|May 30, 2020
Summary
Choroideremia (CHM) patients show progressive structural loss over one year, with older patients exhibiting more severe defects. Quantitative structural parameters are key for monitoring CHM progression.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Choroideremia (CHM) is an X-linked genetic disorder leading to progressive vision loss.
- Understanding the structural and functional changes in CHM is crucial for patient management and therapeutic development.
Purpose of the Study:
- To investigate retinal changes in choroideremia (CHM) patients.
- To determine correlations between age, retinal structure, and visual function in CHM.
Main Methods:
- Prospective longitudinal study of 13 male CHM patients (26 eyes) over 1 year.
- Utilized optical coherence tomography (OCT), OCT angiography, and fundus autofluorescence to assess retinal structure (SCT, EZ, CC, PAF, CFT).
- Functional assessments included visual acuity (VA), contrast sensitivity (CS), color testing, microperimetry, dark adaptometry, and electroretinogram (ERG).
Main Results:
- Progressive loss in subfoveal choroidal thickness (SCT), ellipsoid zone (EZ), choriocapillaris (CC), preserved autofluorescence (PAF), and central foveal thickness (CFT) over 1 year.
- Older patients (≥50 years) showed significantly greater structural and functional deficits, with strong age correlations for SCT, EZ, CC, and PAF.
- While visual acuity and contrast sensitivity remained stable over the year, contrast sensitivity strongly correlated with age. All patients exhibited impaired dark adaptation and color vision, with no detectable ERG activity.
Conclusions:
- Quantitative structural parameters like SCT, CC, EZ, and PAF are valuable for monitoring disease progression in CHM patients.
- Longitudinal functional changes require further investigation with extended follow-up studies.
