Purpose: Mutations in the MFRP (membrane-type frizzled-related protein) gene leads to an entity characterized by retinitis pigmentosa, nanophthalmos, optic disk drusen, and macular changes, originally described as foveoschisis. Despite the association of MFRP gene mutation and increase in macular thickness, no treatment modality has been described for cystoid macular edema related to this particular entity so far.
Methods: In this case report, a 52-year-old woman presented with nanophthalmos, optic disk drusen, retinitis pigmentosa, and increase in macular thickness. Genetic analysis revealed an MFRP gene mutation. The patient was treated with topical carbonic anhydrase inhibitors.
Results: A progressive decrease in macular thickness and cystic changes was observed during the 2-month course of topical carbonic anhydrase inhibitor treatment, and best-corrected visual acuity improved from 20/100 to 20/50. Macular thickness remained stable after 6 months of follow-up.
Conclusion: Cystoid macular edema is part of the macular changes noted in the MFRP mutation-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen, syndrome. Taking into account that resolution of cystoid macular edema in patients with retinitis pigmentosa may delay an irreversible decrease in visual acuity, treatment should be considered when cystic changes are suspected. Topical carbonic anhydrase inhibitor was effective in decreasing macular thickness and cystic changes in the patient reported.