Ocular emergencies in children: Demographics, origin, symptoms, and most frequent diagnoses

To describe the epidemiology of ocular emergencies in children in a hospital-based emergency room (ER). Methods. ,e medical reports of all children, 14 years of age and younger, who attended La Paz University Hospital (Madrid, Spain) ER from September 2015 to August 2016 were prospectively collected. Demographic data, origin, symptom for consultation, diagnostic tests, final diagnosis, and final referral of patients were recorded. Results. A total of 774 children were attended: 57% boys and 43% girls. Mean age was 5 years (SD 4.10 years, range 0–14 years) without significant differences between sexes. Most children went to the ER because parents or teachers took the decision (75%), 24% were referred from the paediatric ER for evaluation, and 0.78% were referred from another hospital or by an out-clinic ophthalmologist. ,e reasons for consultation were red eyes (61%), traumatism (17%), referred from the paediatrician to have the fundus explored in children with headache (7%), eyelids problems (7%), and visual loss (7%). ,e most frequent diagnoses were infectious conjunctivitis (29%), corneal erosion (17%), normal examination (15%), and allergic conjunctivitis (13%). ,e most severe cases (visual loss, acute strabismus, and leucocoria) were referred by the paediatricians and represented 4.65% of the total patients. Visits occurred more frequently during the third trimester of the year (July–September), with a higher incidence of eye trauma in summer. Conclusions. Infectious conjunctivitis was the most frequent pathology. It is necessary to increase public awareness about the symptoms, the way of transmission, and treatment. Ocular trauma was also a common cause of presentation and the majority were contusional and mild. ,ere is also a need for education of parents, teachers, and coaches regarding the potential for eye injuries. Ophthalmologists and paediatricians must take an active role in educating people about the prophylactic measures to prevent eye injuries in childre

Ultrasound diagnosis of Terson syndrome as an indicator of extreme severity in neurocritical care patients

Introduction: Terson syndrome (TS) is defined as any intraocular haemorrhage identified in patients with acute intracranial pathology. TS appears to be associated with clinical severity in patients with subarachnoid haemorrhage (SAH), but the association is yet to be defined in patients with traumatic brain injury (TBI) and intracerebral haemorrhage (ICH). This study aimed to evaluate the diagnostic performance of ocular ultrasound (OU) and its usefulness in clinical practice. Material and methods: We performed an observational, prospective, single-centre study of neurocritical care patients. We analysed cases and controls, defined according to indirect ophthalmoscopy (IO) and OU findings. We determined the diagnostic characteristics of OU. A multivariate analysis was performed to identify clinically relevant associations. Results: The sample included 91 patients diagnosed with ICH (41.76%), SAH (29.67%), and TBI (28.57%). TS was identified by OU in 8 patients (8.79%) and by IO in 24 (24.37%). The adjusted mortality rate in patients with TS showed an odds ratio (OR) of 4.15 (95% confidence interval [CI], 1.52-11.33). All patients with TS detected by OU presented Glasgow Coma Scale scores < 9, with an elevated risk of needing decompressive craniectomy (OR: 9.84; 95% CI, 1.64-59). OU presented an overall sensitivity of 30.43%, specificity of 98.53%, and diagnostic accuracy of 81.32%. For the detection of vitreous haemorrhage, sensitivity and specificity were 87.5% and 98.5%, respectively. Conclusions: OU diagnosis of TS identifies extremely critical patients, who may require the highest level of care; TS is an independent risk factor for in-hospital mortality. Resumen: Introducción: Se denomina Síndrome de Terson (ST) a cualquier tipo de hemorragia intraocular (HIO), identificada en pacientes con patología aguda intracraneal. El ST parece estar relacionado con la gravedad clínica en la hemorragia subaracnoidea (HSA), pero en pacientes con trauma craneoencefálico (TCE) y hemorragia intracerebral (HIC), su asociación está por definir. Diseñamos este estudio para evaluar el rendimiento de la ecografía ocular (EO) y su utilidad en la práctica clínica. Materiales y métodos: Realizamos un estudio observacional prospectivo, unicéntrico en pacientes neurocríticos. Analizamos los casos con respecto a los controles, identificados con oftalmoscopia indirecta (OI), y por EO. Determinamos las características diagnósticas de la EO. Hicimos un análisis multivariante para determinar asociaciones clínicamente relevantes. Resultados: Se incluyeron 91 pacientes con diagnósticos de HIC (41,76%), HSA (29,67%) y TCE (28,57%). El ST fue identificado por EO en ocho pacientes (8,79%) y en 24 pacientes (24,37%) por OI. La mortalidad ajustada para los pacientes con ST tuvo una OR 4,15 con IC 95% (1,52-11,33). Todos los pacientes con ST identificados por EO presentaron una escala de coma de Glasgow <9 y tuvieron un riesgo elevado de precisar craniectomía descompresiva, una OR 9,84 (1,64-59). La EO alcanzó una sensibilidad global de 30,43%, una especificidad del 98,53%, con una precisión diagnóstica de 81,32. Para la detección de la hemorragia vítrea, una sensibilidad y especificidad del 87,5%, y 98,5% respectivamente. Conclusiones: El ST diagnosticado por EO discrimina pacientes neurocríticos de extrema gravedad que pueden requerir el máximo escalón terapéutico y es un factor independiente de mortalidad intrahospitalaria

Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis

PurposeThis study reports the clinical features and genetic bases of 3 previously unreported families with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD).DesignObservational case series.MethodsFull ophthalmic assessment was performed for members of 3 unreported families with PPPCD. Structural and biomechanical alterations of the cornea were screened. Whole exome sequencing (WES) was performed in the first family. Novel or rare variants that segregated with the affected status were screened in the other 2 families using Sanger sequencing. Identified variants that segregated with the affected status in all families were characterized by using in&nbsp;silico prediction tools and/or in&nbsp;vitro splice assays. Additionally, 2 previously reported PPPCD families were screened for variants identified in the 3 unreported PPPCD families.ResultsPPPCD was diagnosed in 12 of the 21 examined members of the 3 unreported families. The only refractive, topographic, or biomechanical abnormality associated with PPPCD was a significantly increased corneal stiffness. WES and Sanger sequencing identified 2 variants that segregated with the affected status in all 3 families: a rare intronic PDZD8 c.872+10A&gt;T variant and a novel missense PRDX3 c.568G&gt;C (p.Asp190His) variant. The same PRDX3 variant was identified in the previously reported PPPCD family expressing the common PPPCD phenotype and was predicted by in&nbsp;silico prediction tools to be damaging to protein function.ConclusionsPPPCD is associated with an alteration of corneal biomechanics and a novel missense variant in PRDX3. Screening of additional families will determine whether all families demonstrate a PRDX3 variant or whether locus heterogeneity may exist for PPPCD