Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome

Abstract

The purpose of this study was to evaluate the efficacy of topical dorzolamide 2% eye drops on macular function and thickness in a case of enhanced S-cone syndrome (ESCS). A 24-year-old Asian man with enhanced S-cone syndrome treated with topical dorzolamide in the left eye participated in the study. Examinations performed before and during treatment included: visual acuity (VA), contrast sensitivity measured with briefly presented grating targets (grating CS) and the Pelli-Robson chart (P-R CS), microperimetry (MP), and spectral-domain optical coherence tomography (SD-OCT). Following four months of treatment, the mean thickness of the central 1-mm foveal subfield of the left eye, as measured by SD-OCT, decreased from 551 μm to 242 μm. Mean MP sensitivity within the central 12 degrees (28 points) increased from 9.4 dB at baseline to 11.2 dB. Although, Pelli-Robson contrast sensivity improved only minimally in the left eye, grating contrast sensivity improved by more than a factor of two. Mean log MAR VA was 0.22 OD and 1.00 OS (at baseline), which improved to 0.10 OD and 0.66 OS after four months of treatment. The results indicate that in our patient with enhanced S-cone syndrome, treatment with topical dorzolamide was effective in improving macular thickness, VA, microperimetry sensitivity, and grating contrast sensivity. These measures of retinal structure and function are sensitive tools for evaluating the effects of treatment in enhanced S-cone syndrome patients with cystoid macular edema. Further investigation is warranted to assess the relationships among visual performance for daily activities, visual sensitivity, and macular thickness.

Topical Dorzolamide for Treatment of Cystoid Macular Edema in Patients With Choroideremia

“…4 Cystoid macular edema (CME) has also been previously reported in different hereditary retinal diseases such retinitis pigmentosa, 5 Usher syndrome, 6 X-linked retinoschisis, 7 enhanced S-cone syndrome, 8,9 and gyrate atrophy. 10 …”

“…9 Additionally, contrast sensitivity is a good predictor of performance for many everyday activities. 21 The measurement of foveal contrast sensitivity has been recommended as an outcome measure in clinical trials of therapeutic interventions 22 and the usefulness of contrast sensitivity measurement was recently highlighted in an NEI/FDA Ophthalmic Clinical Trial Design and Endpoints Symposium.…”

The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography

“…10,21 In RP, it has been shown that in those patients without cysticappearing macular changes on fundus examination, 32% had macular cysts that were evident on OCT testing in at least one eye, and 18% showed cystic lesions in both eyes. 6 OCT has been reported to have a high degree of sensitivity for diagnosing the presence of macular cysts.…”

“…[2][3][4] Macular cysts have been reported in various hereditary night-blinding retinal dystrophies, including retinitis pigmentosa, 5,6 choroideremia, 7 gyrate atrophy, 8,9 and enhanced S-cone syndrome. 10 Cystic macular lesions are also known to occur in X-linked retinoschisis. 11 Since a percentage of patients with the various diseases listed above with cystic macular changes may respond favorably to the use of a carbonic anhydrase inhibitor or other therapies, 10,[12][13][14][15] identifying its presence in patients with CORD might offer the opportunity for these patients to similarly benefit from treatment.…”

Efficacy of Brinzolamide Ophthalmic Suspension 1% for Treatment of a Vitelliform Macular Lesion in a Patient With Desferrioxamine Retinopathy

“…At the 6 months visit, a SD-OCT/SLO system (OPKO instrumentations, Miami, FL) was used as previously described. 7,9 The SD-OCT exams at the baseline visit indicated a highly reflective elevated lesion with accumulation of material in the sub-RPE space associated with the vitelliform macular lesion. Focal disruption of inner segment/outer segment (IS/OS) junction of the photoreceptors over the lesion and an almost normal-appearance of all major intraretinal layers was observed, although the macular region was elevated by the material, resulting in the partial disappearance of the foveal depression.…”