Dorzolamide and retinoschisis

INTRODUCTION: Carbonic anhydrases (CAs, EC 4.2.1.1) have been established drug targets for decades, with their inhibitors and activators possessing relevant pharmacological activity and applications in various fields. At least 11 sulfonamides/sulfamates are clinically used as diuretics, antiglaucoma, antiepileptic, or antiobesity agents and one derivative, SLC-0111, is in clinical trials as antitumor/antimetastatic agent. The activators were less investigated with no clinically used agent...

PURPOSE: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAI) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAI on visual acuity and cystoid fluid collections (CFC) in XRLS patients in Dutch and Belgian tertiary referral centers. DESIGN: Retrospective cohort study PARTICIPANTS: Forty-two patients with X-linked retinoschisis METHODS: In total, 42 patients were enrolled. To be included, patients had to have previous treatment with oral CAI (acetazolamide), topical CAI (brinzolamide/dorzolamide), or a combination of oral and topical CAI for at least 4 consecutive weeks...

PURPOSE: Carbonic anhydrase inhibitors (CAIs) reduce macular schisis in patients with X-linked retinoschisis (XLRS). The purpose of this study was to determine if CAIs reduce the incidence of complications from XLRS, including macular atrophy, retinal tears, and retinal detachment (RD), the most common causes of vision loss in patients with XLRS. METHODS: For this retrospective interventional case series, a chart review of patients examined at Cincinnati Children's Hospital Medical Center [CCHMC] and Cincinnati Eye Institute [CEI] between 1/1/2015 and 1/16/2023 was performed...

PURPOSE: To describe the response to long-term topical dorzolamide treatment in patients with juvenile X-linked retinoschisis and cystic-like foveal lesions. METHODS: This was a retrospective interventional case series that included 18 eyes of 10 patients with genetically confirmed juvenile X-linked retinoschisis examined at the Cleveland Clinic Cole Eye Institute, a tertiary referral center, between 2005 and 2021. Patients were treated with topical 2% dorzolamide two to three times daily in both eyes...

The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within RS1 were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c...

PURPOSE: To present novel findings in stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR), including the largest series of optical coherence tomography angiography (OCT-A) findings to date. METHODS: A retrospective case series with multimodal imaging was obtained and reviewed. RESULTS: All three patients were women, ages 59-63. Two cases were unilateral and one was bilateral. Vision ranged from 20/20 to 20/60 in the affected eyes...

Macular involvement is commonly seen in cases with X-linked retinoschisis (XLRS) which includes foveal schisis and cystic maculopathy. Although no definitive treatment has been described, the use of topical 2% dorzolamide hydrochloride in such cases has shown varied response. We herein report a case of XLRS with foveal schisis showing good response to topical dorzolamide. This case highlights the importance of topical dorzolamide in a patient with XLRS.

BACKGROUND: Optic disc pits frequently lead to visual deterioration due to macular retinoschisis or serous retinal detachment. Here, we report a case of optic disc pit-associated macular retinoschisis due to intraretinal fluid accumulation that resolved with improvement in visual acuity after treatment with topical dorzolamide. CASE DESCRIPTION: A 56-year-old otherwise healthy female with no ocular history presented with 2 weeks of slowly worsening blurry vision in her right eye...

A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family...

To investigate how genotype is related to phenotype and document correlations of genotype-phenotype with response of topical administration of dorzolamide in siblings affected with X-linked juvenile retinoschisis (XLRS). We performed a retrospective study on two male siblings (four eyes) with XLRS, who were treated with topical installation of dorzolamide. Clinical diagnosis was supported with familial genetic analysis with bi-directional Sanger sequencing of RS1 pathogenic variant. Optical coherence tomography (OCT), fundus fluorescein angiography (FFA), ultrasound scan (U/S) and electroretinogram (ERG) were used in the evaluation...

PURPOSE: To assess foveal and parafoveal vasculature at the superficial capillary plexus, deep capillary plexus, and choriocapillaris of patients with X-linked retinoschisis by means of optical coherence tomography angiography. METHODS: Six patients with X-linked retinoschisis (12 eyes) and seven healthy controls (14 eyes) were recruited and underwent complete ophthalmologic examination, including best-corrected visual acuity, dilated fundoscopy, and 3 × 3-mm optical coherence tomography angiography macular scans (DRI OCT Triton; Topcon Corp)...

An 11-year-old boy presented for central vision blurring in each eye. Visual acuity was 20/80 and examination revealed spoke-wheel foveal schisis and peripheral elevated diaphanous inner retina in each eye. Spectral-domain optical coherence tomography showed inner-retinal, flat-topped cysts in each eye. Electrophysiologic testing was refused, but a clinical diagnosis of X-linked retinoschisis was made. Three months after topical dorzolamide (Trusopt; Santen Pharmaceutical, Osaka, Japan) was started, the macular cysts worsened significantly...

PURPOSE: To report the first sequential cross-over treatment with the longest ophthalmic follow-up in a case of X-linked juvenile retinoschisis (XLRS) successfully treated with topical dorzolamide. OBSERVATIONS: A healthy 34 year-old man presented with one month history of decreased visual acuity in his left eye. Funduscopy was significant for a blunted and cystoid-like foveal reflex in both eyes. The macular OCT showed cystic foveal changes OU. The patient was diagnosed with XLRS and was observed...

PURPOSE: To report the clinical course of a patient presenting with stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) in response to topical Dorzolamide treatment. METHODS: Case report, with multimodal imaging findings, including spectral domain optical coherence tomography and fluorescein angiography. Topical Dorzolamide Hydrochloride 2% drops were used three times per day in the affected eye. RESULTS: We identified a 27-years-old male patient who presented with 1-week history of decreased vision in his left eye...

BACKGROUND: Juvenile X-linked retinoschisis (RS1, OMIM: 312700) is a hereditary vitreoretinal dystrophy characterized by bilateral foveal schisis and, in half of the patients, splitting through the nerve fiber layer in the peripheral retina. In the first decade of life, patients usually develop a decrease in visual acuity. Long-term visual outcomes can be poor due to the limited number of known successful treatments. PURPOSE: The purposes of this study were to present, for the first time, a p...

BACKGROUND: X-linked retinoschisis is one of the more frequently encountered inherited macular retinal disorders affecting young males, causing loss of vision. Patients exhibit macular schisis and peripheral schisis, which can mimic retinal detachment, a very different entity that requires surgical intervention. CASE PRESENTATION: An 8-month-old African-American boy was presented to our hospital with severe X-linked retinoschisis involving symmetrical bullous peripheral retinoschisis in both eyes, mimicking retinal detachment...

Purpose. To report the morphological and functional changes associated with a regression of foveoschisis in a patient with X-linked retinoschisis (XLRS). Methods. A 42-year-old man with XLRS underwent genetic analysis and detailed ophthalmic examinations. Functional assessments included best-corrected visual acuity (BCVA), full-field electroretinograms (ERGs), and multifocal ERGs (mfERGs). Morphological assessments included fundus photography, spectral-domain optical coherence tomography (SD-OCT), and adaptive optics (AO) fundus imaging...

CASE REPORT: A 17 year-old male patient, who since 2000 has referred to a progressive bilateral decrease in visual acuity. A "bicycle wheel" macula pattern was observed in his retina. The electroretinogram showed a decrease in the b-wave amplitude. The visual evoked potentials were normal. Optical coherence tomography showed bilateral macular edema. All this supported the diagnosis of X-linked retinoschisis. DISCUSSION: Genetic counseling was given and the pattern of X-linked inheritance was explained...

Juvenile foveal retinoschisis is one of the most common causes of bilateral macular degeneration in young boys. School age with accommodative esotropia may develop amblyopia due to late correction of hyperopia. Retinoschisis is hard to diagnose in patient with subtle macula change and hyperopic amblyopia. We report a case of bilateral foveal retinoschisis before and after treatment with topical dorzolamide, which was misdiagnosed as bilateral hyperopic amblyopia. Optical coherence tomography should be considered in diagnostic procedures of children with hyperopic amblyopia...

PURPOSE: X-linked juvenile retinoschisis (XLRS) is the most common juvenile maculopathy in men and is caused by mutations in the gene encoding retinoschisin (RS1). Evidence in the literature on the therapeutic effect of carboanhydrase inhibitors (CAIs) to treat schisis formation in the retina has remained equivocal. Here, we evaluate the effect of the CAI dorzolamide on the structural and functional disease progression in the mouse model for XLRS (Rs1h(-/y)). METHODS: Rs1h (-/y) mice were treated unilaterally with dorzolamide eye drops (Trusopt(®) 20 mg/mL) every 12 h for 2 weeks starting on postnatal day 14 (n = 27)...