SPATA7 encodes a ciliary scaffold protein essential for photoreceptor maintenance and function 1. The protein localizes to the photoreceptor connecting cilium (CC), where it directly interacts with RPGRIP1 and is required for stable assembly and proper localization of the ciliary protein complex 2. SPATA7 is critical for establishing and maintaining CC integrity throughout life; its loss disrupts protein trafficking across the CC, causing rhodopsin mislocalization to inner segments and triggering photoreceptor apoptosis 23. This dysfunction is photoreceptor-specific, as RPE-dependent SPATA7 function is dispensable for retinal health 4. Mutations in SPATA7 cause Leber congenital amaurosis 3 (LCA3) and early-onset retinitis pigmentosa, predominantly through loss-of-function mechanisms 1. Affected individuals present with severe rod-cone dysfunction and progressive photoreceptor degeneration 5. Murine SPATA7 knockout models show early photoreceptor degeneration (postnatal day 15) with progressive defects 6. AAV-mediated gene therapy demonstrates partial but temporary therapeutic benefit, with photoreceptors still undergoing progressive degeneration despite SPATA7 restoration 6. Phenotypic heterogeneity occurs among patients carrying identical mutations, suggesting additional genetic or environmental modifiers influence disease presentation 1.