Familial exudative vitreoretinopathy associated with retinal astrocytic hamartoma

Abstract

Purpose: To report the first case of retinal astrocytic hamartoma (RAH) arising in the setting of Familial Exudative Vitreoretinopathy (FEVR). Observations: An otherwise healthy 3-month-old male was clinically diagnosed with Familial Exudative Vitreoretinopathy, with subsequent confirmation of a Frizzled-4 nonsense gene mutation. He was treated with multiple rounds of laser photocoagulation after demonstrated peripheral non-perfusion on fluorescein angiography. At 4 years of age, he was noted to have a solitary retinal astrocytic hamartoma in an area of anterior retinal traction which remains under observation. Conclusions and Importance: This case describes the first reported instance of a retinal astrocytic hamartoma arising in the setting of FEVR. Multiple factors may have contributed to the formation of this benign tumor, including retinal dysgenesis, genetic background, or even laser photocoagulation. More case reports and/or molecular studies are required to further clarify the potential role of these insults in the pathogenesis of RAH.

Keywords

• Retinal astrocytic hamartoma (RAH)
• Familial exudative vitreoretinopathy (FEVR)
• Frizzled-4 (FZD4)