Unilateral Fibrovascular Vitreoretinal Proliferation Associated With Retinal Astrocytic Hamartoma Revealing Tuberous...

To report an unusual presentation of previously undiagnosed tuberous sclerosis complex manifesting as unilateral fibrovascular vitreoretinal proliferation associated with retinal astrocytic hamartoma complicated by vitreous hemorrhage (VH).

A single case was reviewed.

A 29-year-old woman presented with visual loss in the left eye and longstanding reduced vision since childhood. Examination revealed a retinal astrocytic hamartoma in the right eye and VH, fibrovascular vitreoretinal proliferation, retinal disorganization, and macular thickening in the left eye. Fluorescein angiography demonstrated telangiectatic vessels and late-phase leakage. The presence of accompanying cutaneous lesions prompted multidisciplinary evaluation, which revealed systemic tuberous sclerosis complex associated with a heterozygous TSC1 mutation. Following a single intravitreal injection of bevacizumab, regression of the VH and stabilization of the proliferative retinal findings were observed during 1 year of follow-up.

Retinal astrocytic hamartomas associated with tuberous sclerosis complex are generally benign and asymptomatic; however, rare progressive forms may present with fibrovascular vitreoretinal proliferative complications. Ocular manifestations may play a critical role in diagnosing previously unrecognized tuberous sclerosis complex.