Similarly, mutations in IFT81 have also previously been associated with a syndromic disease featuring severe skeletal anomalies (polydactyly), nephronophthisis leading to renal abnormalities, intellectual disability, and retinal degeneration.21 Retinal pathology was observed in only one of the two patients displaying abnormal ocular movements, hemeralopia, and poor vision with altered scotopic and photopic ERG. Here, IFT81 is linked to nephronophthisis.