LONG-TERM VISUAL ACUITY PRESERVATION IN SORSBY FUNDUS DYSTROPHY WITH CORTICOSTEROID TREATMENT

To describe the long-term findings of a patient with Sorsby fundus dystrophy treated with corticosteroids and propose a mechanism by which the results were obtained.

Comprehensive ophthalmologic examination with multimodal imaging to include optical coherence tomography and optical coherence tomography angiography was used to evaluate a patient with Sorsby fundus dystrophy treated with intravitreal triamcinolone.

A 35-year-old woman presented in 2003 with aggressive macular neovascularization in both eyes; her visual acuity was 20/25 in the right and 20/400 in the left eye. She previously had photodynamic therapy without apparent benefit. She was then treated with photodynamic therapy and an intravitreal injection of 4 mg of triamcinolone, which caused the neovascularization to become inactive. She was eventually switched to an intravitreal injection of triamcinolone 4 mg every 3 to 4 months in the right eye. She had no further treatment in the left eye because of extensive scarring. After 15 1/2 years of treatment, her visual acuity in the right eye was 20/20. Optical coherence tomography showed a large, low-level, irregular elevation of the retinal pigment epithelium. optical coherence tomography angiography revealed widespread macular neovascularization, and the choriocapillaris showed extensive loss. The patient had a TIMP-3 mutation, c.610A>T (p.Ser204Cys).

TIMP3 has numerous effects including controlling vascular endothelial growth factor signaling and tumor necrosis factor alpha production. Corticosteroids have the potential to modulate both cytokines. This is the longest reported treatment follow-up of Sorsby fundus dystrophy with macular neovascularization, and the patient retained excellent visual acuity.