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. The gene discussed is FH; the disease is Refsum disease.