Although FH has previously been reported in KIF11-related microcephaly syndromes40 and Stickler syndrome (COL2A1),41 our data provide the first clinical evidence linking PHYH (Refsum disease), COL11A1-related Stickler Syndrome and TUBB4B (Leber congenital amaurosis with early-onset deafness) with FH. This evidence concerns the gene COL2A1 and Refsum disease.