TBC1D32 is a ciliary protein essential for primary cilium assembly and function across multiple tissues. It works alongside CDK20 to regulate intraflagellar transport (IFT) turnaround at the ciliary tip, controlling ciliary protein trafficking and structure 1. This coordinated action enables proper Shh signaling responses in developing neural tissue and supports ciliary-dependent developmental processes in the hypothalamus and pituitary gland 2. TBC1D32 mutations cause a heterogeneous ciliopathy with expanding clinical manifestations. In the retina, TBC1D32 dysfunction disrupts retinal pigment epithelium (RPE) differentiation and ciliogenesis, leading to elongated ciliary defects, disrupted tight junctions, impaired retinoid cycling, and photoreceptor connecting cilium anomalies 3. These retinal defects cause retinitis pigmentosa (RP), the most common inherited retinal disease 3. Beyond isolated retinal disease, TBC1D32-related ciliopathy presents with multisystemic involvement including hypopituitarism, facial dysmorphism, developmental delay, and oculomotor nerve palsy 4. Severe prenatal phenotypes with life-limiting congenital anomalies have also been documented 2. Additionally, TBC1D32 variants show associations with end-stage kidney disease risk in diabetic patients 5 and orofacial clefts 6, suggesting broader roles in developmental and metabolic processes.