DYRK1A retinopathy.

ABSTRACT

We present a case of retinopathy in a 4-year-old girl with DYRK1A syndrome. On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal organization. Widefield fluorescein angiography showed vascular pruning and vascular arborization with leakage. Given the risk for progression to retinal detachment, laser photocoagulation was applied to areas of peripheral avascular retina. To our knowledge, this is the first detailed phenotypic analysis of anomalous retinal vasculature in this syndrome.