Alström syndrome is one of the rarer ciliopathies, with an estimated prevalence of 1:100 000 to 1:1 000 000 and around 950 affected individuals reported worldwide.30 Biallelic ALMS1 variants have recently also been published as rare causes of non-syndromic retinal dystrophy and cardiomyopathy (online supplemental table 1). Here, ALMS1 is linked to ciliopathy.