One year follow up in siblings with TREX1-associated retinal vasculopathy with cerebral leukodystrophy

To report macular vascular changes in two cases of retinal vasculopathy with cerebral leukodystrophy (RVCL).

This report presents long-term follow-up findings in two sisters with RVCL, using conventional optical coherence tomography (OCT), widefield optical coherence tomography angiography (OCT-A), and ultra-widefield fluorescein angiography (UWF-FA). Ultra-widefield OCT angiography (UWF-OCT-A) was also employed during the most recent follow-up.

Several valuable monitoring tools, including UWF-FA and OCT-A, are essential for this rare disease. Ophthalmologists must be aware, as many RVCL patients first show isolated ocular findings detectable with OCT, and even earlier with UWF-OCT-A.