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Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia in RPGR-Related Retinal Dystrophy
Shabnam Raji1,2, Laura J Taylor1,2, Amandeep S Josan1,2
1Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Journal of Ophthalmology
|June 19, 2025
Summary
High myopia is linked to early childhood cone photoreceptor degeneration in RPGR-related retinal dystrophy. Early myopia treatment is recommended for cone-dominated phenotypes to improve outcomes and reduce gene therapy risks.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- X-linked retinitis pigmentosa (XLRP) is an inherited retinal disease causing childhood-onset vision loss.
- Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are responsible for over 90% of XLRP cases.
- XLRP presents with varied phenotypes, including rod-cone, cone-rod, and cone dystrophy, often associated with high myopia.
Purpose of the Study:
- To investigate the clinical characteristics of patients with RPGR-related retinal dystrophy.
- To identify associations between specific clinical phenotypes and refractive error, particularly high myopia.
- To inform early treatment strategies for myopia in affected individuals.
Main Methods:
- Retrospective analysis of data from 24 male patients with RPGR-related retinal dystrophy.
- Data included retinal imaging, ophthalmic examinations, and genetic analysis.
- Statistical analysis to compare refractive errors across different phenotypes and disease progression rates.
Main Results:
- High axial myopia was more prevalent in cone-dominated degenerations.
- Cone-rod phenotype showed a significantly higher mean refractive error (-7.92DS) compared to rod-cone phenotype (-3.52DS).
- All fast-progressing rod-cone phenotypes exhibited high myopia, while one slow-progressing cone-rod phenotype did not.
Conclusions:
- Cone photoreceptor degeneration in early childhood is associated with high myopia in RPGR-related retinal dystrophy.
- Early childhood cone dysfunction may stimulate myopia development.
- Earlier myopia management in cone-dominated RPGR-related retinal dystrophy is advised to preserve vision and enhance gene therapy candidacy.
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