Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome.

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.

[Influence of parathyroid hormone and heparin on tooth development in mice homozygous for the microphthalmia mutation]. / Vliianie paratireoidnogo gormona i geparina na razvitie zubov u myshei, gomozigotnykh po mutatsii microphthalmia

In mice, homozygous by microphthalmia (mi/mi) gene the disturbance of dental development was due to defects in dental pulp and to the absence of bone resorpion. Administration of heparin or parathyroid hormone stimulated dental eruption in mi/mi mice. Following combined action of heparin and parathyroid hormone the number of erupted teeth was practically the same as after the action of heparin alone. Possibly the level of heparin is insufficient, but secretion of parathyroid hormone is unimpaired in mi/mi mice.