dorzolamide and Eye-Diseases--Hereditary

A 65-year-old man was referred to our department with complaints of blurred vision in the left eye. Funduscopic examination revealed areas of retinochoroidal atrophy along the retinal veins bilaterally and bone spicule pigmentation along the nasal and superior temporal venous branches, as well as macular oedema in the left eye. Fluorescein angiography, visual field test, optical coherence tomography and electrophysiological examination were performed, and results were compatible with the diagnosis of pigmented paravenous retinochoroidal atrophy (PPRCA). Treatment with topical dorzolamide and intravitreal bevacizumab in the left eye resulted in poor anatomical and visual response. There is scarce documentation of macular involvement with non-inflammatory unilateral cystoid macular oedema in PPRCA in the literature. Further investigation is required to elucidate the pathogenesis of PPRCA and to properly manage these patients.

Topics: Aged; Angiogenesis Inhibitors; Bevacizumab; Carbonic Anhydrase Inhibitors; Eye Diseases, Hereditary; Fluorescein Angiography; Humans; Injections, Intraocular; Macular Edema; Male; Retinal Degeneration; Sulfonamides; Thiophenes; Tomography, Optical Coherence

We describe a case of a 23-year-old man with giant macular schisis which can be seen in Goldmann-Favre syndrome. Associated history of decreased night vision and an enhanced S cone electroretinogram helps in confirming the diagnosis. Swept source optical coherence tomography of the same helps in confirming the schisis and delineates the extent and level of schisis. Other differential diagnosis of bilateral macular schisis in a young man could be juvenile X-linked retinoschisis.

Topics: Antihypertensive Agents; Diagnosis, Differential; Electroretinography; Eye Diseases, Hereditary; Humans; Macula Lutea; Male; Night Blindness; Retinal Degeneration; Retinoschisis; Sulfonamides; Thiophenes; Tomography, Optical Coherence; Vision Disorders; Young Adult

To report the variability of clinical findings, rapid concentric progression, and successful treatment of macular edema in autosomal dominant vitreoretinochoroidopathy (ADVIRC) associated with a heterozygous c.256G > A missense mutation in the bestrophin-1 (BEST1) gene.. Three affected members of a four-generation ADVIRC family were examined with fundus autofluorescence (FAF), near-infrared autofluorescence (NIA) and spectral domain optical coherence tomography (SD-OCT). Direct sequence analysis of coding and flanking intronic regions of the BEST1 gene was performed.. Disease manifestations presented with high variability with visual problems manifesting between 10 and 40 years of age. Two probands showed marked signs of peripheral degeneration, while this retinal area was not noticeably affected in the third. Cystoid macular edema was present in one proband, which responded to long-term treatment with topic dorzolamide with improved visual acuity. FAF and NIA revealed mid-peripheral retinal degeneration in areas that appeared normal on ophthalmoscopy. The full-field ERG was markedly reduced in two probands. Within a 5-year period a marked increase in concentric progression of degeneration including the posterior pole was documented with FAF, NIA and SD-OCT in one proband after the age of 63 years. Direct sequence analysis of the BEST1 gene revealed a heterozygous c.256G > A missense mutation in the three affected probands.. The findings in this family emphasize the previously noted variability of clinical manifestations in BEST1-associated ADVIRC and the relevance of FAF and NIA imaging. Cystoid macular edema and vascular leakage can be successfully treated using dorzolamide.

Topics: Adult; Bestrophins; Carbonic Anhydrase Inhibitors; Child; Chloride Channels; Choroid Diseases; Disease Progression; Electroretinography; Eye Diseases, Hereditary; Eye Proteins; Female; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Genes, Dominant; Humans; Macular Edema; Male; Middle Aged; Mutation, Missense; Optical Imaging; Pedigree; Polymerase Chain Reaction; Retinal Degeneration; Sequence Analysis, DNA; Sulfonamides; Thiophenes; Tomography, Optical Coherence; Visual Acuity

To evaluate whether cystoid macular lesions respond to treatment with dorzolamide 2% drops in the enhanced S-cone syndrome (ESCS) child, as several case reports document favorable efficacy in adults.. Seven-year-old boy with ESCS and cystoid macular lesions was treated with dorzolamide 2% in both eyes three times a day for a period of 7 months. The efficacy of treatment was analyzed by visual acuity assessment (ETDRS), multifocal electroretinography and SD-OCT central foveal thickness (CFT) measurement.. Baseline RE CFT was 540 and 453 µm in the LE, with amplitude of P1-wave density 39.8 and 50.4 nV/deg(2), respectively. Best corrected visual acuity (BCVA) was 0.3 logMAR RE and 0.3 logMAR LE at distance. At 7-month follow-up examination, CFT showed no reduction in thickness (RE 599 µm, LE 521 µm). P1-wave density increased (RE 49.1 nV/deg(2), LE 84.9 nV/deg(2)), with BCVA 0.3 logMAR RE and 0.2 logMAR LE.. To the best of our knowledge, this is the youngest ESCS patient treated with dorzolamide drops and the first report recording that cystoid macular lesions are resistant to topical dorzolamide treatment. Furthermore, these data are in favor of the hypothesis that microcystoid changes in ESCS appear due to defects in cell-to-cell adhesion rather than the disintegration of the retinal barrier. The marked differences in treatment response to carbonic anhydrase inhibitors between the adults and the child here presented suggest that the breakdown of the blood-retinal barrier may play a more important role later in life.

Topics: Administration, Topical; Carbonic Anhydrase Inhibitors; Child; Electroretinography; Eye Diseases, Hereditary; Fluorescein Angiography; Humans; Macular Edema; Male; Ophthalmic Solutions; Retina; Retinal Degeneration; Sulfonamides; Thiophenes; Tomography, Optical Coherence; Vision Disorders; Visual Acuity

The 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.. Twenty-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).. 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/deg(2)) and was between the ranges of normal values. Implicit time of P1-wave remained prolonged.. The results of our short-term study suggest potential efficacy of topical dorzolamide treatment in ESCS patients with macular cysts.

Topics: Administration, Topical; Adult; Carbonic Anhydrase Inhibitors; Cysts; Electroretinography; Eye Diseases, Hereditary; Follow-Up Studies; Humans; Macular Edema; Male; Ophthalmic Solutions; Retinal Degeneration; Sulfonamides; Thiophenes; Tomography, Optical Coherence; Vision Disorders; Visual Acuity