Table 3 of Vanita, Mol Vis 2007; 13:2035-2040.

Table 3. Previously reported families or individuals with different geographic origins with the fibrillin-1 R240C mutation

Thirteen of fifteen reported individuals had isolated ectopia lentis, two were asymptomatic, and two had additional findings.

                Clinical details                        origins      Reference
------------------------------------------------      ------------   ---------
Isolated ectopia lentis                               Australia        [16]
(12 affected, 2 unaffected mutation carriers)

Isolated ectopia lentis                               Finland          [23]
(one person)

Ectopia lentis                                        UK               [15]
(joint hypermobility, involvement of integument)

Classic Marfan syndrome                               Belgium          [10]
(skeletal, cardiovascular, ocular)

Vanita, Mol Vis 2007; 13:2035-2040 <>
©2007 Molecular Vision <>
ISSN 1090-0535