Purpose To survey around the efficacy of the oral carbonic anhydrase
May 22, 2017
Purpose To survey around the efficacy of the oral carbonic anhydrase inhibitor (CAI) acetazolamide in treating macular retinoschisis (RS) in the rare vitreoretinal dystrophy best known as the enhanced S-cone syndrome (ESCS). corrected visual acuity retinal thickness and retinal microanatomy assessed by Stratus optical coherence tomography (OCT) criteria. Results Following treatment instituted one month after the acute-onset visual acuity loss retinal thickness and microanatomic profile normalized Pluripotin in the affected vision with restoration of 20/20 corrected visual acuity. The fellow vision which had remained asymptomatic at 20/16 vision had experienced moderate paracentral macular RS evident by OCT criteria which also resolved completely following oral CAI treatment. The outcome was maintained throughout the follow up period at a low maintenance dose. Conclusions Taken together with other recent reported benefits of topical and oral CAIs in the treatment of macular RS in X-linked retinoschisis this interventional case statement shows that CAIs can be used to treat effectively macular RS in general and also specifically in ESCS. Introduction Enhanced-S Cone Syndrome (ESCS)1-4 is usually a rare autosomal recessive vitreoretinal dystrophy also known as Pluripotin Goldmann-Favre vitreo-retinopathy (GFVRD) or clumped pigmentary retinal dystrophy (CPRD) 5 which are often mistaken for retinitis pigmentosa (RP). Clinically macular and peripheral retinoschisis (RS) are commonly observed in ESCS along with a variety of retinal changes including nummular pigmentary deposits and retinal flecks typically along the arcades.3-5 Macular RS is often present causing reduced acuity in ESCS patients and no successful treatment for this condition has yet been reported. Herein we statement the unusual case of ESCS presenting with adult-onset acute macular RS and document a positive response of this complication to the oral carbonic anhydrase inhibitor (CAI) acetazolamide an established treatment modality utilized both orally and topically to manage cystoid macular edema in retinitis pigmentosa (RP) 6 resulting in resolution of the macular RS with normalization of macular microanatomy and restoration of visual acuity. Methods The functional work-up included full-field dark- (DA) and light-adapted (LA) flash electroretinograms (ERGs) recorded as previously explained 13 14 with HK-loop conjunctival electrodes 15 and DA (500nm size-V stimuli) and LA [600nm size-V stimuli on a standard white background to estimate thresholds mediated by long- and middle- (L/M) wavelength-sensitive cones and 440nm size-V stimuli on a bright yellow background to isolate short wavelength-sensitive (S) cones] monochromatic automated perimetry (MAP) across the entire field of vision performed Pluripotin as previously explained 14 16 according to the technique developed by Jacobson et al. 4 14 17 Once the Pluripotin diagnosis of ESCS was established on clinical and functional criteria the accuracy of this conclusion was verified through diagnostic molecular genetic screening for mutations in the gene which is known to underlie ESCS.18 Genomic DNA was extracted PCR amplified and sequenced according to standard procedures. The intervention used in this case was an oral CAI regimen of acetazolamide 125 mg (half of a 250-mg Diamox tablet Teofarma Pavia Italy) twice daily and subsequently tapered to a single maintenance dose of 62.5 mg (one quarter of a tablet) daily administered on an open-label basis for off-label use to treat acute macular RS. The primary outcome measures utilized to judge response to the treatment regimen within this individual were: greatest corrected visible acuity assessed with ETDRS acuity graphs; retinal thickness portrayed in microns (μ); and the entire retinal microanatomical profile the last mentioned two ascertained through typical time-domain Stratus OCT (Carl Zeiss Meditec Dublin CA). LEADS TO this interventional case survey we illustrate the situation of the 48-year-old guy of Jewish-Italian descent who offered a 1-month background of acute metamorphopsia blurred and decreased visible acuity in the CD69 still left eyes Pluripotin reported to possess happened after a intense gym exercise program. His background was remarkable for the life-long background of nyctalopia and upon overview of prior medical information and color fundus photos retinal Pluripotin pigmentary adjustments that were within both eye. Corrected visible acuity of 20/20 or better have been documented in any way prior eye exams using a minor myopic modification in the lack of medically detectable macular retinal cystic.