Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a connective tissue disorder associated with aggressive arterial aneurysms; rarely, it can have clinical features similar to those of Marfan syndrome, with retinal detachment, myopia, and ectopia lentis. A 19-month-old boy with history of LDS was found to have peripheral retinal nonperfusion in both eyes and a combined traction and exudative retinal detachment of the left eye. Ocular findings in the father, who also had LDS, were normal, but the patient's 34-month-old sister with LDS was also found to have less extensive peripheral retinal nonperfusion. To our knowledge, this is the first report of LDS associated with peripheral retinal nonperfusion in siblings with the same LDS mutation.