Autosomal dominant cerebellar ataxias have considerable variation and overlapping phenotypes. Cerebellar ataxia is obviously the core feature of the disease, and in some “pure” forms, it is its only manifestation. In a few families, paroxistic manifestations precede the cerebellar syndrome, as in the case of hemiplegic migraine in spinocerebellar ataxia (SCA) type 6. In recent years, we have been progressively aware of the association of dominant ataxia with spasmodic cough in a few kindreds. We describe the clinical presentation of 6 Portuguese families with this particular form and discuss possible links with SCA5 and the recently described SCA20 (allelic to SCA5).

Purpose: To investigate the topical effect of dorzolamide versus ketorolac on retinitis pigmentosa (RP) and Usher's syndrome (US) macular edema. Methods: Prospective, randomized and interventional study. A total of 28 eyes of 18 patients were included. Five eyes had US, 23 had RP. Fifteen eyes were allocated to ketorolac tromethamine 0.5% (4 drops daily regimen) and 13 eyes to dorzolamide hydrochloride 2% (3 drops daily regimen) treatment groups. Snellen's best-corrected visual acuity (BCVA), foveal thickness (FT) and foveal zone thickness (FZT) measured by Stratus® optical coherence tomography (OCT) were evaluated at baseline, 1, 3, 6 and 12 months after treatment. Results: Patients assigned to ketorolac had a baseline BCVA of 0.37 ± 0.17 logMAR which improved at the end of 1 year to 0.28 ± 0.16 (p = 0.02). Three eyes (20%) of 2 patients improved by 7 letters or more. Mean FT and FZT did not change significantly during the study follow-up. After 1 year of treatment, 4 eyes (27%) of 3 patients showed an improvement of at least 16% of FT and 11% of FZT. Patients assigned to dorzolamide had a baseline BCVA of 0.48 ± 0.34 logMAR which improved in the first 6 months (0.40 ± 0.30; p = 0.01), with a decrease at 1 year (0.42 ± 0.27; p = 0.20). Seven eyes (54%) of 5 patients had an improvement of 7 letters or more. Mean FT and FZT did not change significantly either. After 1 year of treatment, 3 eyes (23%) of 2 patients showed an improvement of at least 16% on FT and 11% on FZT. Conclusions: Results suggest that dorzolamide and ketorolac might improve visual acuity and therefore be of interest in selected cases. No relationship between retinal thickness fluctuation and visual acuity was found. Sample size was a limitation to the study.

Purpose Characterized by a progressive onset of gait disturbances, dementia and urinary incontinence, idiopathic Normal Pressure Hydrocephalus (iNPH) is considered a rare but under-diagnosed disease. Non-invasive diagnostic markers are still insufficient to enable the diagnosis of iNPH with certainty and yet early treatment with ventriculoperitoneal (VP)-shunting can reverse symptoms and stop disease progression. Vascular circulation abnormalities in iNPH may be reflected by changes in subfoveal and peripaillary choroidal thickness. This study uses spectral domain - optical coherence tomography (SD-OCT) based measures of retinal and choroidal thickness to test this hypothesis and to assess ophthalmological non-invasive markers for iNPH. Methods 12 patients that displayed neurological and neuroradiological characteristics of iNPH were subject to a full ophthalmological examination including enhanced depth imaging (EDI) SD-OCT. Of the 12 included iNPH patients 6 had undergone VP-shunting with beneficial outcome. Parameters studied with EDI SD-OCT were macular retinal thickness (MT), subfoveal choroidal thickness (SFChT), retinal nerve fiber layer thickness (RNFL) and peripapillary choroidal thickness (PPChT). Results were compared with 13 healthy, age-matched controls. Results RNFL and MT values of iNPH patients did not reflect atrophy. Non-shunted iNPH patients showed significantly lowered median PPChT and SFChT values compared to healthy controls. Shunted iNPH patients displayed a significantly higher median PPChT and SFChT compared to non-shunted iNPH patients. SFChT and PPChT values in shunted patients were not significantly different to values in healthy controls. Conclusion Although limited by small sample size, SD-OCT measures in this study reveal significant changes of choroidal thickness and support the hypothesis of choroidal susceptibility to hemodynamic alterations in iNPH. Non-shunted iNPH patients in this study show choroidal thinning in combination with normal RNFL and MT values. In addition to neurological and neuroradiological exams this pattern may aid in the challenging diagnosis of iNPH.

Purpose. To describe a clinical case of indapamide induced bilateral angle narrowing and acute myopia. Materials and Methods. Clinical case report. Results. A 37-year-old Caucasian emmetropic man presented to the Emergency Department with complaints of acute-onset bilateral blurry vision, nine days after starting treatment for arterial hypertension with a combination of indapamide and amlodipine. Clinical examination revealed the presence of myopia and appositional closure of the anterior chamber angle. Ultrasound biomicroscopy and mode B ultrasonography disclosed bilateral ciliochoroidal effusion with anterior rotation of the ciliary body and iridocorneal angle narrowing. After intraocular pressure control with brimonidine and timolol, and replacement of indapamide/amlodipine by amlodipine only, the patient was discharged. Complete resolution of the clinical manifestations was observed after three weeks, with no sequelae. Conclusions. Indapamide may cause acute myopia and angle closure secondary to ciliochoroidal effusion that are fully reversible after drug withdrawal, as long as timely diagnosis is established. Therefore, indapamide, as well as other sulfonamide-derived drugs, must always be considered in the differential diagnosis of acute myopia and angle closure.