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Clinical/Demographic Functional Testing and Multimodal Imaging Differences between Genetically Solved and Unsolved
João Pedro Marques1,2,3, Ana Marta4,5, Sara Geada1
1Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
Summary
Genetic testing success in nonsyndromic retinitis pigmentosa (nsRP) varies. Clinical and imaging features, not visual acuity, may predict genetic diagnosis likelihood in nsRP patients.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Nonsyndromic retinitis pigmentosa (nsRP) is a group of inherited retinal diseases.
- Genetic underpinnings of nsRP are not always identified.
- Understanding factors influencing genetic diagnosis is crucial for patient care.
Purpose of the Study:
- To compare clinical, demographic, functional, and multimodal imaging features between genetically solved and unsolved nsRP patients.
- To identify predictors for successful genetic diagnosis in nsRP.
Main Methods:
- Cross-sectional study of 175 nsRP patients with genetic testing.
- Classification of genetic variants using American College of Medical Genetics and Genomics criteria.
- Comparison of clinical, functional (visual acuity, visual field index), and imaging (retinal layer thickness) data between genetically solved (G2) and unsolved (G1) groups.
Main Results:
- Genetically solved nsRP patients (G2) more often presented with early-onset symptoms (<25 years), consanguinity, and clear inheritance patterns.
- No significant difference in best-corrected visual acuity between groups.
- Genetically unsolved nsRP patients (G1) had significantly higher visual field index and central retinal layer thickness.
- Atypical multimodal imaging features were equally frequent in both groups.
Conclusions:
- Clinical and functional characteristics, alongside multimodal imaging, can inform counseling on the likelihood of identifying disease-causing variants in nsRP.
- Further research may refine predictors for genetic diagnosis in nsRP.
