SOFT syndrome is not clearly associated with retinal dystrophy, although a pigmentary retinopathy was recently observed in 3 individuals.33,34 Recessive variants in POC1B were previously linked to a nonsyndromic cone or cone-rod dystrophy.35–38 Today, extraocular abnormalities have been reported in individuals with POC1B variants, such as kidney disease and diabetes.37,39,40 Therefore, interdisciplinary collaboration is essential to define the full phenotype spectrum of individuals with variants in these genes. This evidence concerns the gene POC1B and short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.