dorzolamide and Retinal-Dystrophies

Monozygotic twins with glutathione synthetase deficiency, progressive retinal dystrophy and cystoid macular edema were followed for foveal changes on optical coherence tomography under different treatment modalities. The purpose of the study is to show the effect of topical dorzolamide in conjunction with systemic acetazolamide in terms of decreasing macular edema in this specific disease. The results showed that systemic acetazolamide alone or in combination with topical dorzolamide decreased CME in both patients for a certain period of time. The result can be temporary sustained after treatment discontinuation. In conclusion, topical dorzolamide, in conjunction with systemic acetazolamide, could reduce cystoid macular edema in GSSD.

Topics: Acetazolamide; Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Combined Modality Therapy; Diseases in Twins; Drug Therapy, Combination; Glutathione Synthase; Humans; Macular Edema; Male; Ophthalmic Solutions; Retinal Dystrophies; Sulfonamides; Thiophenes

Non leaking macular cystoid spaces (MCS) are seen in some retinal dystrophies. Carbonic anhydrase inhibitor (CAI) treatment may reduce the size of MSC and improve vision.. A retrospective study of patients with retinal dystrophy with MCS seen between 2009 and 2013 at two sites. Patients had ophthalmic examination, optical coherence tomography (OCT) and genetic testing. Patients with vision worse than 20/30 were treated with CAI. Post treatment visual acuity (VA), central foveal zone (CFZ) thickness, and qualitative estimation of MCS size were assessed.. Eighteen patients, 6-47 years old, were included. IVFA was performed in 15 (83%) patients. Of the 26 eyes in 13 patients who were treated and followed, VA improved in 15 eyes (58%) of 10 patients. Ten of these 15 eyes had decreased CFZ thickness and 9/10 showed qualitative MCS improvement. Regression analysis showed that change in CFZ thickness was not significantly predictive of change in final visual acuity (p = 0.405). Five of 15 eyes with improved VA had paradoxically increased CFZ thickness and 2/5 had enlarged MCS. Three of the treated eyes (11%) in two patients had decreased VA with decreased CFZ thickness and improved MCS in 2/3 eyes. Eight eyes (31%) in six patients showed no change in VA with decreased CFZ thickness in 6/8 eyes with improved MCS. Genetic testing showed mutations of NR2E3, XLRS, CRB1, GPR98 and CNGB1.. Non-leaking MCS occur in a variety of retinal dystrophies. Therapy with topical or systemic CAI has variable efficacy and may result in VA improvement with or without qualitative improvement in MCS and CFZ thickness.

Topics: Acetazolamide; Administration, Oral; Administration, Topical; Adolescent; Adult; Carbonic Anhydrase Inhibitors; Child; DNA Mutational Analysis; Eye Proteins; Female; Humans; Macular Edema; Male; Middle Aged; Retinal Dystrophies; Retrospective Studies; Sulfonamides; Thiophenes; Visual Acuity

To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors.. Retrospective case series.. We report four patients with retinal degeneration and intraretinal cystoid spaces due to CRB1 mutation. Of these patients, three were treated with topical carbonic anhydrase inhibitors. One of these three patients was changed to oral carbonic anhydrase inhibitor. Best corrected visual acuity and quantitative and qualitative macular optical coherence tomography results were recorded.. Three patients were compound heterozygous for CRB1 mutations, and one had two mutations one of which was not found in the father. A total of seven different mutations were detected. All patients treated with carbonic anhydrase inhibitors experienced an improvement in visual acuity and decreased central retinal thickness, except in one eye in which retinal thickness paradoxically increased.. CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.

Topics: Acetazolamide; Adolescent; Carbonic Anhydrase Inhibitors; Child; Child, Preschool; Eye Proteins; Female; Humans; Macular Edema; Male; Membrane Proteins; Mutation; Nerve Tissue Proteins; Pedigree; Polymerase Chain Reaction; Retinal Dystrophies; Retrospective Studies; Sulfonamides; Thiophenes; Tomography, Optical Coherence; Visual Acuity

Topics: Administration, Topical; Carbonic Anhydrase Inhibitors; Child; Diseases in Twins; DNA Mutational Analysis; Electroretinography; Eye Proteins; Female; Fluorescein Angiography; Humans; Macular Edema; Membrane Proteins; Mutation; Nerve Tissue Proteins; Ophthalmic Solutions; Retinal Dystrophies; Sulfonamides; Thiophenes; Tomography, Optical Coherence; Twins, Monozygotic; Visual Acuity