Abstract
PurposeThe purpose of the study was to evaluate the efficacy of a topical form of a carbonic anhydrase inhibitor (dorzolamide) on the foveal function and thickness in the eye of a patient with enhanced S-cone syndrome (ESCS) associated with macular cysts.MethodsTwenty-eight-year-old Polish man with ESCS and macular cysts appearance in the right eye was treated 3 times daily with 2.0 % dorzolamide drops for the period time equal to 6 months. Monthly controls included: best corrected distance visual acuity (BCDVA-logMAR), foveal thickness (optical coherence tomography, OCT) and foveal function (multi-focal electroretinography, mfERG).Results Before treatment, BCDVA in the right eye was equal to 0.26 logMAR, improved to 0.1 logMAR during the first 3 months and remained stable for the next 3 months. After 6 months, foveal thickness decreased (from 482 to 224 μm) and foveal function improved (the amplitude of P1-wave density increased from 34.8 to 107.3 nV/deg2) and was between the ranges of normal values. Implicit time of P1-wave remained prolonged.Conclusions The results of our short-term study suggest potential efficacy of topical dorzolamide treatment in ESCS patients with macular cysts.
Highlights
Enhanced S-cone syndrome (ESCS) first described in 1990 by Marmor et al [1] is a rare, slowly progressive autosomal recessive inherited retinal degenerative disorder
Purpose The purpose of the study was to evaluate the efficacy of a topical form of a carbonic anhydrase inhibitor on the foveal function and thickness in the eye of a patient with enhanced S-cone syndrome (ESCS) associated with macular cysts
Enhanced S-cone syndrome is diagnosed on the basis of characteristic clinical fundus changes and pathognomonic features of the full-field electroretinography (ERG)
Summary
Enhanced S-cone syndrome (ESCS) first described in 1990 by Marmor et al [1] is a rare, slowly progressive autosomal recessive inherited retinal degenerative disorder. In most cases of ESCS, NR2E3 gene mutation is responsible for the disease development and leads to abnormal cones and rods differentiation [2]. Enhanced S-cone syndrome is diagnosed on the basis of characteristic clinical fundus changes and pathognomonic features of the full-field electroretinography (ERG). The S-cone ERG recording can be performed to confirm the pathophysiologic origin of the disease (the S-cone hyperactivity) and is characterized by abnormally large and delayed waveforms (relative to those with standard stimulation) [3]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
