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Introduction: Migraine is one of the most common causes of transient visual loss. Optical coherence tomography angiography (OCTA) provides fast and non-invasive imaging of the retinal vessels. We report one case of monocular retinal oligemia demonstrated using OCTA during a migraine attack with aura. Case description: A 27-year-old man with a previous history of migraine with visual aura was seen in the emergency room due to acute left hemicranial pain with positive visual symptoms in his right eye. The patient reported a blue stain in his right eye. Optical coherence tomography angiography (OCT-A) showed an extensive area of hypoperfusion in the macular region of his right eye. Forty-eight hours later visual symptoms had improved and the OCT-A showed a significant reduction in the area of hypoperfusion. Seven days later the patient was asymptomatic and retinal perfusion had returned to normal values. Conclusion: Monocular involvement suggests that these retinal vascular changes are independent from cerebral vascular changes, supporting the hypothesis of selective retinal ganglion cell layer spreading depression as the possible cause of some cases of retinal migraine.

pre-print 75 KB

The possible role of gammaaminobutyric acid (GABA) in the pathophysiology of restless legs syndrome (RLS) is suggested by the symptomatic improvement achieved with GABAergic drugs. Thalamic GABA levels have shown positive correlation with periodic limb movements indices and with RLS severity. We tried to investigate the possible association between the most common single nucleotide polymorphisms (SNPs) in the GABA receptors (GABR) genes rho1, 2, and 3 (GABRR1, GABRR2, GABRR3), alpha4 (GABRA4), epsilon (GABRE), and theta (GABRQ) with the risk of developing RLS. We studied the genotype and allelic variant frequencies of the most common SNPs in the GABRR1(rs12200969, rs1186902), GABRR2(rs282129), GABRR3(rs832032), GABRA4(rs2229940), GABRE(rs1139916), and GABRQ(rs3810651) genes in 205 RLS patients and 230 age- and gender-matched healthy controls using specific TaqMan assays. The frequencies of the GABRR3 rs832032TT genotype and the allelic variant GABRR3 rs832032T were significantly higher in RLS patients than in controls (odds ratio [95% confidence intervals] 7.08[1.48-46.44] and 1.66[1.16-2.37], respectively), although only the higher frequency of the rs832032T allele remained as significant after multiple comparison analysis, both in the whole series and in the female gender. The frequencies of the other genotypes of allelic variants did not differ significantly between RLS patients and controls. RLS patients carrying the GABRA4 rs2229940TT genotype showed a significantly younger age at onset of RLS symptoms than those with the other two genotypes. These results suggest association between GABRR3rs832032 polymorphism and the risk for RLS, and a modifier effect of GABRA4 rs2229940 on the age of onset of RLS.

Purpose: The presence of the so called disc at risk (a small disc with no cupping) has been considered the main risk factor for the development of non-arteritic anterior ischemic optic neuropathy (NAION). However its role as a prognostic factor has not been studied. Our aim was to determine the weight of disc configuration as a risk and a prognostic factor for NAION. Methods: Case control study. Forty eyes of 40 patients who were diagnosed with NAION between 2008 and 2017, and 120 controls (3 controls for each patient) were included in the study. Disc diameter (DD), cup to disc ratio (CDR), and peripapillar retinal nerve fiber layer thickness (RNFLT) of the non-affected eye were measured using optic coherence tomography (3D OCT 2000, Topcon). Crowding index (CI) was defined as the quotient of average RNFLT and disc area. Mean deviation (MD) at the time of diagnosis and at least three months later was determined using a Humphrey Visual Field Analyzer (SITA standard 24-2 strategy). Visual acuity (VA) was measured using Snellen charts and transformed into LogMAR values. Results: Only CDR was found to be a risk factor for NAION. No correlationship was found between CI and visual loss. Conclusions: DD and CI did not show value as either prognostic or risk factors. Glial tissue may be a part of the content of the optic disc as important as axons. Our results are in line with the latest studies about NAION pathophysiology. Contrary to classic thinking, these papers have not found smaller disc diameters, but smaller values of lamina cribosa depth in NAION patients. pre-print 267 KB

From a diagnostic point of view, fourth nerve palsy constitutes the most challenging extraocular palsy for ophthalmologists, neurologists and optometrists. Examination of patients with this neuropa...

Purpose: To report the correlation between visual function and subfoveal choroidal thickness (SChT) in a case of POEMS syndrome. Case report: A 53 year old man diagnosed with POEMS syndrome was referred due to blurred vision. Best corrected visual acuity (BCVA) was 0.5 in his right eye (RE) and 0.7 in his left eye (LE), with a mild perimetric defect in the RE. SChT was 356 and 263 µm in his RE and LE. After an autologous peripheral blood stem-cell transplantation, both visual and systemic symptoms improved. At the most recent visit, SChT was 284 and 222 µm in his RE and LE, BCVA was 1.2 in both eyes and the perimetric defects had improved. Conclusions: SChT was inversely correlated with visual function in space and time. Due to the high sensitivity of choroidal tissue to vascular endothelial growth factor, SChT might be useful to monitor disease activity in POEMS. pre-print 732 KB

A recent meta-analysis suggests an association between the rs11558538 single nucleotide polymorphism in the histamine-N-methyl-transferase (HNMT) gene and the risk for Parkinson’s disease. Based on the possible relationship between PD and restless legs syndrome (RLS), we tried to establish whether rs11558538 SNP is associated with the risk for RLS. We studied the genotype and allelic variant frequencies of HNMT rs11558538 SNP 205 RLS patients and 410 healthy controls using a TaqMan assay. The frequencies of the HNMT rs11558538 genotypes allelic variants were similar between RLS patients and controls, and were not influenced by gender, family history of RLS, or RLS severity. RLS patients carrying the genotype rs11558538TT had an earlier age at onset, but this finding was based on three subjects only. These results suggest a lack of major association between HNMT rs11558538 SNP and the risk for RLS.

Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson's disease, corticobasal degeneration, and multiple system atrophy. We tried to establish, whether MAPT H1 discriminating haplotype single nucleotide polymorphisms (SNP) (rs1052553) is associated with the risk for restless legs syndrome (RLS). We studied the allelic and genotype frequencies of the SNP rs1052553 in 205 patients with RLS and 324 healthy controls using TaqMan genotyping. rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS.

Background and purpose: The question whether patients with essential tremor (ET) have slowed movements as part of their clinical manifestations is still a matter of controversy. We analyzed basic motor function in patients with ET and in healthy matched controls. Methods: We studied 61 patients with ET and 122 age- and sex-matched controls. Evaluation included four timed tests (pronation-supination, finger tapping and movement between two points, all with both hands, and walking test); and three tests performed on a personal computer (speed for pressing repetitively a key – frequency, visual reaction time and movement time, all with both hands). Results: Essential tremor patients showed higher mean values for right and left finger tapping, left movement between two points; and with right and left frequency and reaction time. In the logistic regression study, ET patients showed significantly higher values than controls for right and left finger tapping; mean, SD, maximum and rank values of right and left frequency; and mean, SD, minimum, maximum and rank values of right and left visual reaction time. Tremor severity was not correlated with the altered values. Conclusions: Patients with ET showed impaired motor performance, at least in some tasks, such as rapid repetitive finger movements (finger tapping and frequency) and visual reaction time (impairment was not related with tremor severity). This probably means that patients with ET have some degree of bradykinesia.

Dopaminergic dysfunction could play a role in restless legs syndrome, and patients with central dopaminergic dysfunction exhibit difficulties in performing alternating movements or in the movement initiation. Therefore, we analyzed basic motor function performance in patients with idiopathic restless legs syndrome and in healthy matched controls. We studied 50 patients diagnosed with restless legs syndrome and 100 age and sex matched controls. Evaluation included four timed tests (pronation-supination, finger tapping and movement between two points with both hands, and walking test); and three tests performed on a personal computer (speed for pressing repetitively a key frequency, simple reaction time, and movement time with both hands). In a univariate study, restless legs patients showed lower mean values for right pronation-supination, minimum value for right frequency and movement time, and standard deviation, maximum and rank values of movement time with the left arm; and higher mean values for left finger tapping, right and left movement between two points, and standard deviation and rank for right and left frequency. With a multivariate study, restless legs patients showed significantly lower mean values for right pronation-supination, minimum right movement time, and rank of left movement time; and higher mean values for left finger tapping and movement between two points, and rank of right frequency. Motor performance of patients with restless legs syndrome is similar to that of healthy matched controls with the exception of impaired left finger tapping and movement between two points, and better performance of right pronation-supination movements.

The presence of pigment in the optic disc head is common in the eyes of many animals.1932 However, in humans the presence of an entirely pigmented optic disc, constitutes an uncommon finding.2011 I...

Several recent works suggest a possible role of vitamin D deficiency in the etiology or restless legs syndrome (RLS). We analyzed the possible relationship of 2 common single nucleotide polymorphisms (SNPs) in the vitamin D3 receptor (VDR) gene with the risk for RLS. We studied the genotype and allelic variant frequencies of VDR rs2228570 and VDR rs731236 SNPs in 205 RLS patients and 445 healthy controls using a TaqMan essay. The frequencies of the rs731236AA genotype and the allelic variant rs731236A were significantly lower in RLS patients than in controls (P

Several biochemical, neuropathological, and experimental data suggest a possible role of nitric oxide (NO) in the pathophysiology of restless legs syndrome (RLS). Two single nucleotide polymorphisms (SNPs) neuronal nitric oxide synthase (nNOS or NOS1) gene (rs7977109 and rs693534) have been found to be associated with the risk for RLS in Germans, although only one of them (rs7977109) remained as significant after multiple comparison tests. The aim of our study was to replicate the possible association between these SNPs and risk for RLS in the Spanish population. We studied the allelic and genotype frequencies of the SNPs rs7977109 and rs693534 in 205 patients with RLS and 328 healthy controls using TaqMan genotyping. The rs7977109 and rs693534 genotypes and allelic frequencies did not significantly differ between patients with RLS and controls and were unrelated with the age at onset of RLS, gender, ferritin levels, and response to dopaminergic or gabaergic agents. The rs7999109GA genotype was overrepresented in RLS patients with positive family history of RLS, and in patients with symptomatic response to clonazepam. The results of our study suggest that these two NOS1 SNPs are not related to the overall risk for RLS in the Spanish population.

Spontaneous intracranial hypotension (SIH) is a rare syndrome characterized by postural headache associated with a low cerebrospinal fluid pressure in the absence of dural puncture or penetrating trauma. Cranial magnetic resonance imaging (MRI) typically shows diffuse pachymeningeal gadolinium enhancement, subdural fluid collections, prominence of cerebral venous sinuses and brain descent. Visual signs and symptoms have been described infrequently in patients with SIH. These include third or sixth nerve palsy, superior nasal quadrantanopia and temporal hemianopia. We report a 34 year-old woman who presented with a two-year history of orthostatic headache, dizziness and transient visual obscurations. Campimetry showed a bilateral concentric visual field defect. She also described that intermittently a transparent fluid leaked out of her nose. She had no past history of trauma, sinus surgery or intracranial surgery. Cranial MRI was normal. Neuro-ophthalmological examination ruled out any other causes of concentric visual field defects. Lumbar puncture showed a cerebrospinal fluid (CSF) opening pressure of 9 cm H2O. Radioisotope cisternography suggested a dural leak at cribiform plate. The cribiform plate region was repaired endoscopically with improvement of all symptoms. One year later she remains asymptomatic and the visual field defects have improved.

Several neurochemical, neuropathological, neuroimaging, and experimental data, suggest that iron deficiency plays an important role in the pathophysiology of restless legs syndrome (RLS). Heme-oxygenases (HMOX) are an important defensive mechanism against oxidative stress, mainly through the degradation of heme to biliverdin, free iron, and carbon monoxide. We analyzed whether HMOX1 and HMOX2 genes are related with the risk to develop RLS. We analyzed the distribution of genotypes and allelic frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 SNPs, as well as the presence of Copy number variations (CNVs) of these genes in 205 subjects RLS and 445 healthy controls. The frequencies of rs2071746TT genotype and rs2071746T allelic variant were significantly lower in RLS patients than that in controls, although the other 3 studied SNPs did not differ between RLS patients and controls. None of the studied polymorphisms influenced the disease onset, severity of RLS, family history of RLS, serum ferritin levels, or response to dopaminergic agonist, clonazepam or GABAergic drugs. The present study suggests a weak association between HMOX1 rs2071746 polymorphism and the risk to develop RLS in the Spanish population.