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Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.

Purpose: To study the subfoveal choroidal thickness (SFCT), macular ganglion cell layer (GCL-IPL) and central macular thickness (CMT) in Caucasian children, and to analyze these optical coherence tomography (OCT) parameters depending on the spherical equivalent (SE). Methods: Cross-sectional study of SFCT, GCL-IPL, and CMT in Caucasian children, analyzed with spectral-domain OCT Cirrus 5000 and Enhanced-depth imaging technique. Correlation between these three OCT parameters, age, sex, and spherical equivalent was analyzed. The eyes were classified into three groups: group 1 included eyes with SE < 0, group 2 included eyes with SE between 0 and +2.00, and group 3 eyes with SE > +2.00. Results: Hundred ninety-eight eyes of 121 subjects were studied. The mean age was 9.22 years (range 3–16); 61.1% were female. The mean SFCT was 351.04 ± 84.08 µm, being 310.04 ± 82.84µm in group 1 (n = 62), 373.14 ± 83.16 µm in group 2 (n = 71) and 365.18 ± 73.16 µm in group 3 ( n = 65); statistically significant differences were found between groups 2 and 3, compared with group 1. GCL-IPL thickness was significantly thinner ( p Conclusions: SFCT and GCL-IPL thickness were significantly thinner ( p

IMPORTANCE To evaluate peripapillary vascular flow using optical coherence tomography angiography (angio-OCT) in patients with optic nerve head drusen (ONHD). BACKGROUND Angio-OCT allows non-invasive visualization and quantification peripapillary vascular flow. DESIGN Cross-sectional study. PARTICIPANTS Seventy-six eyes of 40 patients. METHODS Between January 2018 and May 2019, consecutive patients with ONHD and healthy controls underwent a complete ocular assessment, including visual acuity testing, biomicroscopy, tonometry, funduscopy, automated perimetry, retinography and autofluorescence, spectral-domain OCT and peripapillary angio-OCT. MAIN OUTCOMES MEASURES Peripapillary vascular flow, vascular density, retinal nerve fibre layer (RNFL) and ganglion cell layer (GCL) thicknesses. RESULTS We included 23 patients with ONHD (42 eyes, 32 with visible drusen; mean age 50.96 years, 12 men) and 17 control patients (34 eyes; mean age 47.12 years, 7 men), without significant differences in age or sex. Vascular flow and density were significantly lower in patients with ONHD (0.409% and 40.18%, respectively) than in normal eyes (0.438% and 43.30%, respectively) (P = .006 and P

Background: Methods of urine collection used in precontinent children are a controversial issue. Definitive diagnosis of urinary tract infection (UTI) requires an uncontaminated urine culture. We aimed to describe methods used to collect urine for culture in infants under 3 months of age and compare results and contamination rates. Methods: This retrospective observational cohort study included 721 urine cultures collected from infants

AIM: This study evaluated using urine dipstick tests with the clean-catch method to screen for urinary tract infection (UTI) in febrile infants under 90 days of age. METHODS: We carried out a comparative diagnostic accuracy study of infants under 90 days old, who were studied for unexplained fever without any source, in the emergency room of a hospital in Madrid from January 2011 to January 2013. We obtained matched samples of urine using two different methods: a clean-catch, standardised stimulation technique and catheterisation collection. The results of the leucocyte esterase test and nitrite test were compared with their urine cultures. RESULTS: We obtained 60 pairs of matched samples. A combined analysis of leukocyte esterase and, or, nitrites yielded a sensitivity of 86% and a specificity of 80% for the diagnosis of UTIs in clean-catch samples. The sensitivity of leukocyte esterase and, or, nitrites in samples obtained by catheterisation were not statistically different to the clean-catch samples (p = 0.592). CONCLUSION: Performing urine dipstick tests using urine samples obtained by the clean-catch method was an accurate screening test for diagnosing UTIs in febrile infants of less than 90 days old. This provided a good alternative to bladder catheterisation when screening for UTIs. Sin financiación 2.265 JCR (2018) Q2, 43/125 Pediatrics 1.031 SJR (2018) Q1, 51/318 Pediatrics, Perinatology and Child Health, 528/2844 Medicine (miscellaneous) No data IDR 2018 UEM

Purpose: To describe the features of solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE) using high-definition optical coherence tomography (HD-OCT).Methods: This was a retrospective, observational, noncomparative case series including 16 consecutive patients with solitary CHRPE. We describe the clinical and OCT features of CHRPE using the 5 radial lines acquisition OCT protocol over the CHRPE and the retina next to the tumor.Results: The mean patient age was 54 years (median 57 years; range 8-76 years). The CHRPE lesion was outside the posterior pole in 14 of the patients (8 temporal, 3 superior, 2 nasal, and 1 inferior quadrant) and 2 peripapillary. Fifteen patients (94%) showed retinal thinning and complete photoreceptor loss overlying the CHRPE. The RPE hyperreflectivity was found in all patients. The retina over the lesion measured a mean of 60.3% (range 41%-95%) of the thickness of the adjacent normal retina.Conclusions: High-definition OCT showed retinal thinning, photoreceptor loss, and RPE hyperreflectivity in solitary CHRPE lesions. 1.068 JCR (2014) Q4, 44/57 Ophthalmology UEM

Background: Transient, unilateral mydriasis has been reported in migraine patients, and this has been regarded as a possible co-morbidity between migraine and Adie’s tonic pupil. Mydriasis that outlasts the duration of migraine attacks is rare. Methods: Through an eight-year period we have studied all patients referred to our neurological clinic because of migraine attack with mydriasis. All the patients underwent thorough neurologic and ophthalmologic examinations including MRI of the brain and testing of the pupil response to ocular instillation of dilute pilocarpine (0.125%). Results: Seven women and two men, with a mean age of 33.8 ± 12.3 years (range: 19–52) were included. The patients presented during one hemicranial migraine attack with an ipsilateral mydriasis that persisted for a mean of three months, while migraine headaches remained with their typical episodic course. In all the patients a cholinergic supersensitivity in the symptomatic pupil was demonstrated, thus pointing to a dysfunction of the ipsilateral ganglionic parasympathetic fibers. Conclusions: Synchronous co-localization of the features suggests a pathogenic link between the pupil dysfunction and migraine, rather than a simultaneous coexistence of two independent disorders. Likely explanations include a latent Adie’s pupil that could have been triggered during a particular migraine attack; a ciliar ganglionic lesion/dysfunction produced by the migrainous process; an ophthalmoplegic migraine with selective parasympathycoparesis; or an episodic ciliar ganglionitis with migrainous features. Ciliary ganglioplegic migraine is proposed as a nominal term pointing to the possible anatomic source of the migrainous-related pupil dysfunction; the pathogenesis remains unknown.

(Headache 2010;50:1286-1295) Objective.— To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Background.— Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Methods.— Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. Results.— In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n = 11) or in the nose (n = 7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Conclusions.— Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

Background We studied the incidence and clinical characteristics of persistent diplopia related to anaesthesia for cataract surgery in a general hospital. Methods This was a retrospective review of anaesthesia for 3587 cataract surgeries. Of all the cases of diplopia referred to the ocular motility clinic after cataract surgery, those involving anaesthesia-related diplopia lasting longer than 1 month were studied. Results During the study period, 3450 cataract surgeries were performed by phacoemulsification and 137 by extracapsular extraction. Retrobulbar block was used in 2024 cases, peribulbar block in 98, topical anaesthesia in 1420 and general anaesthesia in 43. Twenty-six cases of persistent diplopia were found (0.72% incidence), nine of which (0.25%) were considered to be related to anaesthetic factors; five of the latter involved the left eye. Five were caused by paresis of the inferior rectus muscle and three by fibrosis. In one patient, the inferior oblique muscle was affected. Anaesthesia was by retrobulbar block in eight cases (0.39%) and by peribulbar block in one. No diplopia was found in patients who had topical or general anaesthesia. Treatment was with surgery in two patients and with prisms in six. One patient continues to be studied. Conclusions Persistent diplopia can occur after cataract surgery using retrobulbar block predominantly through direct damage to the inferior rectus muscle. The overall incidence of anaesthesia-related diplopia in this series was 0.25%.

To assess the efficacy of using autofluorescence to identify optic nerve head drusen (ONHD) in children.We conducted a cross-sectional, descriptive study of subjects18 years of age with possible pseudopapilledema due to ONHD. B-scan ultrasonography was considered the gold standard diagnostic technique. All participants underwent an extensive ophthalmic examination that included fundus color photography, autofluorescence analysis, and B-scan echography. ONHD were classified as visible or hidden. Autofluorescence images were analyzed by three observers who were masked to the results of B-scan ultrasonography.A total of 24 children with pseudopapilledema were included. B-scan ultrasonography confirmed ONHD in 32 eyes of 18 patients (9 boys). Mean patient age was 12 years (range, 7-17 years). ONHD was bilateral in 14 patients; unilateral in 4. The majority of the drusen were hidden (26 of 32 eyes). Analysis of autofluorescence patterns identified the drusen in 94% of cases (30 of 32 eyes): visible, 100%; hidden, 92%. Interobserver agreement was high (κ = 0.91, κ = 0.96, κ = 0.89).In this study cohort, autofluorescence proved a safe, fast, and reliable technique for identifying ONHD in children.

To evaluate anatomical and functional impairment of the retinal nerve fiber layer (RNFL) using optical coherence tomography (OCT) and automated perimetry in patients with optic nerve head drusen (ONHD).Sixty-six eyes (66 patients) were studied with ONHD - confirmed by ultrasound B scan - and 70 eyes (70 subjects) of healthy control subjects. ONHD cases were categorised as visible or hidden. Average RNFL thickness and measurements in terms of the quadrants were analysed using both time-domain optical coherence tomography (TD-OCT) and spectral-domain optical coherence tomography (SD-OCT). Anatomical and visual field alteration of RNFL between visible and hidden ONHD and control groups were compared.Average RNFL thickness in ONHD patients was 94 μm (TD-OCT) and 88 μm (SD-OCT), and in controls 107 μm (TD-OCT) and 96 μm (SD-OCT), with statistically significant differences between both OCTs. All quadrants analysed showed significant differences except the temporal quadrant. The differences were not significant between hidden drusen and controls.Visual field examination in ONHD showed alterations in 56 %. Alterations were greater in visible drusen in relation to non-visible drusen, but there were no significant differences.The association between RNFL defects in superior, inferior and temporal quadrants and visual field defects showed a statistical relation with visible ONHD, but not in hidden ONHD.ONHD caused anatomical and functional damage of the RNFL, with a clear association between the alteration in ONHD and visual field defects in visible drusen cases.

Purpose To compare optic disc area measurement between optic nerve head drusen (ONHD) and control subjects using fundus photography, time-domain optical coherence tomography (TD-OCT) and spectral-domain optical coherence tomography (SD-OCT). We also made a comparison between each of the three techniques. Methods We performed our study on 66 eyes (66 patients) with ONHD and 70 healthy control subjects (70 controls) with colour ocular fundus photography at 20o (Zeiss FF 450 IR plus), TD-OCT (Stratus OCT) with the Fast Optic Disc protocol and SD-OCT (Cirrus OCT) with the Optic Disc Cube 200 × 200 protocol for measurement of the optic disc area. The measurements were made by two observers and in each measurement a correction of the image magnification factor was performed. Measurement comparison using the Student's t-test/Mann–Whitney U test, the intraclass correlation coefficient, Pearson/Spearman rank correlation coefficient and the Bland-Altman plot was performed in the statistical analysis. Results Mean and standard deviation (SD) of the optic disc area in ONHD and in controls was 2.38 (0.54) mm2 and 2.54 (0.42) mm2, respectively with fundus photography; 2.01 (0.56) mm2 and 1.66 (0.37) mm2, respectively with TD-OCT, and 2.03 (0.49) mm2 and 1.75 (0.38) mm2, respectively with SD-OCT. In ONHD and controls, repeatability of optic disc area measurement was excellent with fundus photography and optical coherence tomography (TD-OCT and SD-OCT), but with a low degree of agreement between both techniques. Conclusions Optic disc area measurement is smaller in ONHD compared to healthy subjects with fundus photography, unlike time-domain and spectral-domain optical coherence tomography in which the reverse is true. Both techniques offer good repeatability, but a low degree of correlation and agreement, which means that optic disc area measurement is not interchangeable or comparable between techniques.

To evaluate the efficacy of time-domain optical coherence tomography (TD-OCT) and spectral-domain optical coherence tomography (SD-OCT) in differentiating between optic nerve head drusen (ONHD) and optic disc oedema (ODE).We studied 66 patients with ONHD, 31 patients with ODE, and 70 controls using TD-OCT and SD-OCT. We analysed two aspects of the tomographic findings: (i) quantitative, through measurement of the retinal nerve fibre layer (RNFL) and papillary elevation; and (ii) qualitative, through assessment of the hyporeflective space, morphology of the internal contour, focal papillary mass and RNFL increases in seven contiguous clock hours. We evaluated the sensitivity, specificity, intra-class correlation coefficient (ICC), and inter-observer agreement (κ).The quantitative analysis of the RNFL revealed an average thickness of the RNFL124μm with TD-OCT (sensitivity=91%; specificity=94%) and116μm with SD-OCT (sensitivity=91%; specificity=97%). The thickness of the nasal quadrant was108μm with TD-OCT (sensitivity=89%; specificity=87%) and with SD-OCT was92μm (sensitivity=88%; specificity=94%), however without significant differences between the nasal, superior and inferior quadrants' and average thickness. The measurement of papillary elevation was 0.85mm with TD-OCT (sensitivity=96%; specificity=84% [ICC=0.96]) and was0.80 mm with SD-OCT (sensitivity=86%; specificity=87% [ICC=0.94]). The abrupt termination of the hyporeflective space measured with TD-OCT had sensitivity=79% and specificity=90% (κ=0.60) and with SD-OCT had sensitivity=88% and specificity=89% (κ=0.75); the irregularity of the internal contour with TD-OCT had sensitivity=80% and specificity=90% (κ=0.70) and with SD-OCT had sensitivity=88% and specificity=90% (κ=0.75); and the absence of seven contiguous clock hours had values of sensitivity=97% and specificity=77% with TD-OCT and had sensitivity=98% and specificity=77% with SD-OCT.Optical coherence tomography allowed for differentiation between ONHD and ODE, yielding similar results with TD-OCT and SD-OCT. The new quantitative parameters of papillary elevation and RNFL measurements showed greater sensitivity and specificity than the qualitative criteria.

Purpose: To evaluate the ophthalmoscopic manifestations of patients with visible and hidden optic disc drusen (ODD). Method: We studied 55 patients (100 eyes) with ODD that were confirmed using B-scan ultrasonography and a control group of 60 patients (100 eyes) for differential diagnosis. We analysed the optic nerve features with stereoscopic photography and compared the characteristics between visible and hidden ODD and between hidden ODD and papilloedema. Results: The patients with ODD presented the following ophthalmoscopic features: visible drusen (52%), blurred edges (84%), raised optic disc (74%), absence of optic disc cupping (69%), absence of venous pulse (54%), abnormal vascular branching (81%), presence of cilioretinal vessels (42%), peripapillary atrophy (56%) and haemorrhages (2%). Comparison of the qualitative characteristics of the papillae of the eyes with visible and hidden ODD showed statistically significant differences in all parameters studied, except for morphological alterations (p = 0.851) and haemorrhage (p = 0.954). Comparison of hidden ODD with papilloedema showed statistically significant differences in blurred edges, disc elevation, absence of optic disc cupping, altered colour, anomalous vascular branching and optic disc haemorrhages (p < 0.005). Conclusions: Ophthalmologic features associated with ODD can help us to diagnose their presence and avoid confusing them with papilloedema.

PURPOSE. To report a case of symptomatic myopic retinoschisis with foveolar detachment and lamellar macular hole, treated with expansible gas. METHODS. Interventional case report. A myopic patient presented with a history of decreased vision and metamorphopsia in his right eye. Optical coherence tomography (OCT) revealed an increased macular thickness, thinning and separation of the inner and external retina (retinoschisis or foveoschisis), foveolar detachment, lamellar hole, and foveolar vitreous traction. We treated the patient with a single dose of 0.2 mL of perfluoroethane (C(2)F(6)), performed under retrobulbar anesthesia, followed by prone posturing for 15 days. RESULTS. OCT showed reattachment of the foveolar retina, disappearance of the retinoschisis, and visual acuity improvement. CONCLUSIONS. Intraocular expansible gas and prone posturing, without vitrectomy, could be an alternative treatment in selected cases of symptomatic macular foveoschisis with foveolar detachment, in the absence of dense epiretinal membranes. (Eur J Ophthalmol 2010; 20: 473-5) 0.980 JCR (2010) Q3, 39/56 Ophthalmology

Background: The authors have observed a group of patients complaining of periorbital pain, emanating from the trochlear area, in absence of trochleitis or other orbital or systemic disease. All were previously diagnosed and treated as different types of headaches, but pain was not controlled until local treatment on the sore trochlea was performed. The authors have investigated the role of the trochlear area in causing and modulating headache.Methods: Observational case series. Trochlear pain was defined as pain on this area, exacerbated upon examination and looking in supraduction. Pain was studied after trochlear injections of lidocaine, corticosteroids, and placebo. Secondary orbital pain was ruled out.Results: Seventeen women and one man were evaluated (mean age: 44 years). All presented unilateral pain in the trochlear area (60% reported more extended headache), for more than 1 year in 70%. Neither ocular autonomic signs nor motility restrictions were observed. Imaging examinations were normal in 100%. The temporal pattern was either chronic or remitting, with acute exacerbations. Pain increased at night in 55%. A total of 62% presented concurrent headaches. Locally injected corticosteroids relieved the pain within 48 hours in 95% and also improved concurrent headaches, by decreasing attack frequency and analgesics intake. Placebo was not helpful. Relapses were observed in 45% (average 8 months).Conclusions: The trochlear region is the origin of a specific and unrecognized headache, which we have named primary trochlear headache. Local treatment on the trochlear area is also useful for other concurrent primary headaches with inadequate response to oral therapy.

Changes in intraocular pressure (IOP) elicited by a Valsalva manoeuvre were studied in 11 male patients (mean age 39.8 years) suffering from episodic cluster headache (CH), and 12 healthy male controls (mean age 39.9 years). The tests were performed at rest and while exhaling hard through a mouthpiece connected to a mercury manometer. In the CH group, during symptomatic periods, between attacks, Valsalva manoeuvre elicited an asymmetric increase in IOP with significantly higher values on the symptomatic side ( P = 0011), whereas no asymmetric increments in IOP were found during asymptomatic periods. Outside the cluster period the IOP values both baseline and with Valsalva manoeuvre did not differ from controls. The increment in IOP took place within a few seconds, as in spontaneous CH attacks, thus pointing to a rapid increase in intraocular blood volume or vasodilatation. These findings may reflect a latent increased vascular reactivity of the symptomatic orbit during CH period.

To compare the incidence of diplopia after topical or regional injection anesthesia in cataract surgery.Retrospective, noncomparative interventional case series.Three thousand five hundred forty-two consecutive cataract surgeries, performed from March 1998 to December 2001, were studied.Incidence and mechanisms of diplopia.Two thousand one hundred twenty-two patients were operated under regional and 1420 under topical anesthesia. Twenty-four cases of diplopia were observed, 21 (87.5%) in the regional group and 3 (12.5%) after topical anesthesia (P = 0.005). Eleven cases (45.8%) were secondary to motility problems, all in the regional anesthesia group (P = 0.006). Eight cases (33.3%) were secondary to refractive errors or intraocular lens luxation, 5 after regional and 3 after topical anesthesia (P = 0.88). Five cases (20.8%) were secondary to fusion loss, all in the regional anesthesia group (P = 0.06).In our study, topical anesthesia was associated with a lower incidence of diplopia relative to regional injection anesthesia. No cases of diplopia secondary to fusion loss or muscle damage were found after topical anesthesia surgery.