dorzolamide and Diseases-in-Twins

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

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