Individuals with LoF POC5 variants show significant similarity with Alström syndrome (retinal dystrophy, adipocyte dysfunction, insulin resistance, early-onset type 2 diabetes, nonalcoholic fatty liver disease, chronic progressive kidney disease, alopecia, polycystic ovarian syndrome, and scoliosis).29 Alström syndrome is caused by biallelic variants in ALMS1 (HGNC:428).30 Similar to POC5, ALMS1 localizes to the centriole and the basal body of the cilium. Here, POC5 is linked to Retinal dystrophy.