Unilateral Fibrovascular Vitreoretinal Proliferation Associated With Retinal Astrocytic Hamartoma Revealing Tuberous Sclerosis Complex in Adulthood.
Özkan Efe Polat EP, Taş Aygar Gamze G, Çiçek Kaya Pınar P, Şekeryapan Gediz Berrak B
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.