Heterozygous mutations in COL11A1 (OMIM 120280) or COL11A2 (OMIM 120290) have been associated with autosomal dominant disease, although COL11A2‐related disease lacks ophthalmic findings as the gene is not expressed in the vitreous (Le Goff & Bishop, 2008). Here, COL11A2 is linked to autosomal dominant disease.