IFT140 is a core component of the intraflagellar transport complex A (IFT-A), essential for retrograde ciliary transport and GPCR entry into cilia 12. It plays a pivotal role in ciliogenesis and cilium maintenance across ciliated tissues 2. IFT140 is required for photoreceptor outer segment development and opsin delivery, and recent evidence suggests it protects critical factors in spermiogenesis from proteasomal degradation 3. ARL16 regulates IFT140's export from the Golgi to cilia, indicating its role in ciliary protein trafficking 4. Genetially, IFT140 dysfunction causes diverse ciliopathies reflecting cilia's pleiotropic functions. Biallelic loss-of-function variants cause syndromic short-rib thoracic dysplasia with retinitis pigmentosa, kidney failure, and cardiomyopathy 5. Notably, monoallelic IFT140 variants cause an atypical autosomal dominant polycystic kidney disease phenotype, affecting 1.9-2.1% of ADPKD-diagnosed families 67. This represents the third most common genetic cause of PKD after PKD1/PKD2 6. Affected individuals typically develop large, exophytic kidney cysts with favorable renal prognosis compared to classic ADPKD, though 56.3% over age 60 develop stage 3+ chr16 kidney disease 8. Retinal dystrophy is the most common ocular manifestation across both syndromic and ocular-only IFT140-related phenotypes 9.