RP encompasses a spectrum of inherited retinal degenerative diseases.
2 The variability in clinical manifestations among patients with RP may influence the efficacy of BCAAs. The stratification factors used in this study are primarily based on age and mean deviation (MD) values; however, these may not fully capture the heterogeneity within the RP patient population. Future research should incorporate additional stratification factors, such as the patient’s genetic background (e.g. genotype, including genetic screening results), disease progression stage (e.g. early, intermediate, or late clinical stages), and quality of life measures (e.g. visual function-based scores) to minimize potential confounding factors and ensure balance across these critical variables. Alternatively, subgroup analyses based on patient characteristics, such as genotype (e.g. EYS gene mutation), disease stage, and gender, may provide insights into efficacy differences among specific subgroups. Second, as a nutritional supplement, the ability of BCAAs to penetrate the retina and exert their effects remains to be validated. Future studies should focus on pharmacokinetic and pharmacodynamic analyses of BCAAs, including assessments of bioavailability, plasma concentration, and the capacity to cross both the blood-brain barrier and the blood-retina barrier, to explore their pharmacokinetic profiles in the human body. Additionally, exploratory research into biomarkers, genomics, or metabolomics could be conducted to identify potential biomarkers (e.g. inflammatory factors and oxidative stress markers) for evaluating BCAAs’ efficacy in treating RP. Investigating whether BCAAs modulate the mTOR pathway (a key regulator of cell growth, metabolism, survival, and stress response) to enhance retinal cell repair or anti-inflammatory responses could provide insight into their potential mechanisms of action in RP, thereby optimizing treatment strategies.
3 Third, in addition to utilizing ellipsoid zone length and fundus autofluorescence (FAF) images, supplementary indicators such as the thickness of the retinal nerve fiber layer (RNFL), changes in macular region thickness, the cup-to-disc ratio of the optic disc, and the health status of retinal vessels can be employed to assess morphological changes in the retina. This comprehensive approach provides more robust data on retinal function and structural alterations, offering a better reflection of ocular pathological changes.
4 Furthermore, morphological changes in the fundus and the fine retinal structures typically require substantial time to become apparent. Future studies should consider using imaging techniques, such as optical coherence tomography (OCT), fundus photography, and scanning OCT, to establish a morphology scoring system that tracks dynamic changes by regularly comparing retinal morphology at different time points. This would enable a more precise assessment of the protective effects of drugs on retinal structures. Last, considering that RP may involve neurodegenerative changes, future research could incorporate cognitive function tests to evaluate the dual impact of drugs on both retinal and brain functions.
5 Monitoring the functionality of the visual cortex may uncover new insights into the treatment of RP.