AIPL1 is a specialized HSP90 co-chaperone essential for photoreceptor cell function and survival. It serves as a critical chaperone for phosphodiesterase 6 (PDE6), the effector enzyme of the phototransduction cascade, ensuring proper folding, stability, and trafficking of this multimeric protein complex 1. AIPL1 is expressed early during retinal development in both rod and cone photoreceptors, with sustained expression in adult rods 2. Biallelic AIPL1 mutations cause Leber congenital amaurosis 4 (LCA4), one of the most severe inherited retinal dystrophies, characterized by rapid photoreceptor degeneration beginning in infancy 3. Patients typically present before age one with perception-limited vision, nystagmus, and nearly undetectable electroretinographic responses 4. AIPL1 mutations account for approximately 11% of LCA cases, with p.Q141X being the most prevalent mutation in Chinese populations 5. Clinically significant therapeutic advances have been achieved: subretinal gene supplementation therapy using rAAV8.hRKp.AIPL1 improved visual acuity from light perception to measurable levels in young children, with preserved retinal structure and functional visual cortex activation 6. Complementary approaches including human cone photoreceptor transplantation have demonstrated functional rescue even in end-stage disease models 7, suggesting multiple therapeutic pathways for this severe blinding condition.