ABSTRACT
PURPOSE: To report two cases of serpiginous choroiditis which were treated with sub-Tenon's triamcinolone in conjunction with systemic steroids to control acute and chronic disease progression. Increased success of disease remission has been postulated for sub-Tenon's triamcinolone therapy in conjunct with systemic steroids. METHODS: Retrospective chart review of two serpiginous choroiditis patients who presented at an eye center. Both patients received sub-Tenon's triamcinolone and systemic steroids. Visual acuity and disease course are reported. RESULTS: Both cases of serpiginous choroiditis received sub-Tenon's triamcinolone on presentation and were hospitalized for intravenous corticosteroids and systemic work up. The first patient had been on oral corticosteroids before presentation. Both patients reported same day visual improvement after sub-Tenon's triamcinolone was administered. CONCLUSIONS: These two case reports describe unique clinical scenarios in which sub-Tenon's triamcinolone was used in both the acute and chronic phases of serpiginous choroiditis. Local steroid therapy can be a useful adjunctive therapy when systemic steroids are delayed, contraindicated or intolerable.
ABSTRACT
Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and optic disc drusen. The disease phenotype is variable, however, with some patients maintaining good central vision and cone function till late in the disease. A knock-in mouse model with the c.498_499insC mutation in Mfrp (Mfrp KI/KI) was developed to understand the effects of these mutations in the retina. The model shares many of the features of human clinical disease, including reduced axial length, hyperopia, retinal degeneration, retinal pigment epithelial atrophy, and decreased electrophysiological responses. In addition, the eyes of these mice had a significantly greater refractive error (p < 0.01) when compared to age-matched wild-type control animals. Administration of recombinant adeno-associated virus-mediated Mfrp gene therapy significantly prevented thinning from retinal neurodegeneration (p < 0.005) and preserved retinal electrophysiology (p < 0.001) when treated eyes were compared to contralateral sham-treated control eyes. The Mfrp KI/KI mice will serve as a useful tool to model human disease and point to a potential gene therapeutic approach for patients with preserved vision and electrophysiological responses in MFRP-related retinopathy.