FBN1 and isolated ectopia lentis: In 2016, p.(Arg2680Cys) was found in compound heterozygous state in an individual with aorta dilation, together with NM_000138.4:c.4270 C > G p.(Pro1424Ala) in exon 35 of FBN1. Another family member who carried only p.(Arg2680Cys) presented with ectopia lentis and no other symptoms, at the age of two [29].