Summary
Summary Expression of pathogenic variants in Peripherin-2 (PRPH2) leads to various forms of retinal dystrophies, with the mechanisms of degeneration remaining poorly understood. However, studies in mouse models expressing equivalent mutations have revealed the formation of aberrant outer segments with elongated dysmorphic discs. With no approved treatments available and the complexity of pathogenic pathways involved, identifying a universally effective therapeutic target for PRPH2 pathogenic variants is crucial. The elongated disc formation suggests that the presence of the full complement of
