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Mohamed A. Genead, Gerald A. Fishman; Presence and Treatment of Cystoid Macular Edema in Patients with Choroideremia. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2130.
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To investigate the presence and treatment efficacy of cystoid macular edema (CME) in patients with choroideremia by using a topical carbonic anhydrase inhibitor (dorzolamide 2% ophthalmic solution).
Sixteen patients affected with choroideremia seen in the Ophthalmology Department at the University of Illinois at Chicago were enrolled in the study. All patients underwent a complete ocular examination, including best-corrected visual acuity using an early treatment diabetic retinopathy screening chart (ETDRS), slit-lamp biomicroscopy, and dilated funduscopy by both direct and indirect ophthalmoscopy. Spectral-domain OCT (SD-OCT) was performed using an OPKO spectral-domain OCT/SLO instrument. Among these 16 patients, 2 choroideremia patients with CME, observed by SD-OCT, were treated with a topical dorzolamide 2% ophthalmic solution, three times a day in each eye. Follow-up visits were conducted at 2 and 5 months after treatment initiation. Main outcome measures were changes in visual acuity log of the minimum angle of visual resolution (log MAR) and macular thickness on SD-OCT testing during follow-up for the duration of treatment.
The average age of the study patients was 44.0 ± 16.0 years (range, 13-63 years). Out of the 16 patients with choroideremia, 10 patients (62.5%) showed a degree of CME on SD-OCT testing in at least one eye, and 8 patients (50%) showed CME in both eyes. The two choroideremia patients (age 45 and 63-years-old, respectively), who were treated with dorzolamide 2%, showed a positive response with a marked reduction in macular thickness on SD-OCT testing. This reduction was found in both eyes after 2 months of treatment with a sustained improvement in the macular thickness after an additional 3 months. The two study patients showed a modest improvement of their visual acuity, in at least one eye, on ETDRS charts.
The presence of CME in a high percentage of our choroideremia patients is consistent with malfunction of the blood-retinal barrier, with diffusion of fluids to within the retina. Because of its notable prevalence in our cohort of choroideremia patients, we now routinely screen choroideremia patients by SD-OCT for the possible presence of CME and to identify those possibly amenable to current or future treatment strategies for their macular edema.
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