Presence Of Ocular Abnormalities Research Articles

Ocular manifestations in patients with autoimmune bullous dermatoses: A hospital-based retrospective study

Background: Ocular involvement in autoimmune bullous dermatoses (AIBD) remains underappreciated. Objectives: The objective was to study the prevalence and characteristics of ocular involvement in patients with AIBD. Methods: The medical records of 25 patients (males: females 11:14) aged between 27 and 85 years (mean ± standard deviation = 44.9 ± 15.6 years) with AIBD were analyzed retrospectively for clinico-epidemiological attributes and the presence of ocular abnormalities. Results: There were 20 (80%) pemphigus patients, of which most were pemphigus vulgaris (PV, n = 14) and pemphigus foliaceus (PF, n = 6). Other 5 (20%) patients included bullous pemphigoid (BP, n = 4) and cicatricial pemphigoid (CP, n = 1). Seventeen (68%) patients comprising 11 (78.6%) of PV, 3 (50%) of PF, 2 (50%) of BP, and 1 (100%) of CP had 27 ocular abnormalities. Erosions of lid margins (n = 3, 27.3%), blepharitis with meibomitis (n = 1, 9.1%), chalazion (n = 1, 9.1%), and conjunctival vesicles over bulbar conjunctivae (n = 2, 18.2%), conjunctivitis (PV = 5, 45.5%, PF = 1, 33.3%), and symblepharon and keratoconjunctivitis sicca in one (9.1%) patient each, respectively, were major ocular manifestations in pemphigus. Entropion with trichiasis, shallow fornices, and corneal opacities were major abnormalities in patients with BP (n = 2, 100%) and CP (n = 1, 100%). Conclusion: Ocular comorbidities vary in prevalence and severity between subtypes of AIBD. These are mainly from complications of ocular surface disease predominantly affecting the anterior segment of the eye. They are more severe in patients with CP compared to others. The study is limited by a single-center, retrospective-study design, a small number of patients in each group for stratification, and long-term follow-up.

Characteristics associated with drug resistant epilepsy in children up to 36 months old with Congenital Zika Syndrome

ObjectivesTo verify characteristics associated with drug resistant epilepsy in children up to 36 months of age with Congenital Zika Syndrome (CZS). MethodsThis is a prospective cohort study with children aged up to 36 months diagnosed with CZS. Obstetric, demographic, phenotype and other clinical signs, cranial tomography, growth and motor development of the children were collected. ResultsOf a total of 109 children diagnosed with CZS, 100 (91.7%) had epilepsy and 68 (68%) with drug resistant seizures. The types of seizures associated with drug resistant epilepsy were focal seizures from the occipital lobe, generalized tonic and generalized tonic-clonic seizures. There was an association between drug resistant epilepsy and microcephaly at birth, severe microcephaly at birth, excess nuchal skin, ventriculomegaly, reduced brain parenchyma volume, and hypoplasia or malformation of the cerebellum. Difficulty sleeping, irritability, continuous crying, dysphagia and gross motor function were clinical signs associated with drug resistant epilepsy, as were the presence of ocular abnormalities, low head circumference in the first year of life and low weight in the first six months. ConclusionsThe prevalence of drug resistant epilepsy in children up to 36 months with CZS was 62.4% and was associated with the severity of the child's neurological damage, with emphasis on the reduction of brain parenchyma volume and damage to the cerebellum.

Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study.

This exploratory cross-sectional study aimed to examine the family quality of life (FQoL) among 51 Brazilian families who have children with Rubinstein-Taybi syndrome, a rare genetic disorder. Data were collected using sociodemographic and clinical data forms, as well as the Beach Center FQoL Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The average score of the overall FQoL was 3.93 ± 0.64. Families' scores were higher for family interaction (4.17 ± 0.76), parenting (4.13 ± 0.61), and disability-related support (4.08 ± 0.76) domains, and lower for the family's emotional well-being (3.31 ± 0.96) and physical/material well-being (3.76 ± 0.82) domains. Family income, attendance at religious services, presence of ocular abnormalities, and aggressive behavior explained 46.2% of the variance in the overall FQoL. In summary, FQoL seems to be anchored in aspects such as family interaction and the care of parents, and be negatively affected by emotional issues, physical, and material limitations. In this context, psychological assistance should be provided to both parents and siblings whenever indicated, for improving emotional well-being and increasing family resilience. Additionally, investments in social policies, services, and human and material resources are needed to improve the physical and material conditions of families, promote better health care, and therefore reduce the family burden.

Impact of new chelating agents on ocular abnormalities in β-thalassemia major patients: a comparative study

Objectives The objectives of this study were to assess ocular changes in β-thalassemia major patients who have received multiple transfusions and different chelating agents. Patients and methods A cross-sectional study of 90 β-thalassemia major patients from age group 14 to 24 years were selected as case group, and 90 age-matched and sex-matched healthy participants were considered as a control group. Full medical history and thorough physical examinations were done to all patient groups. Ocular examination, including visual acuity, refraction testing, slit-lamp examination, funduscopy, tonometry, perimetry, tear-breakup time test, and color-vision testing, was performed for all the participants. We computed the frequency and duration of blood transfusion, the mean serum ferritin level, pretransfusion hemoglobin concentration, the type, duration, and daily dose of chelation therapy for thalassemia patients based on their records. Results All thalassemic patients were asymptomatic, but abnormal ocular findings [dry eye (13.3%), cataract (10%), retinal changes (16.7%), color-vision deficiency (3.33%), ocular hypertension (6.67%), and visual acuity (8.88%)] were seen in 58.9% of thalassemic group. The prevalence of ocular abnormalities in the control group was 19.4%, which was significantly lower than that in thalassemia patients (P=0.000). No significant correlation was found between ocular abnormalities and mean serum ferritin level (P=0.627) and mean hemoglobin concentration (P=0.143). A positive correlation between the number of blood transfusions with the presence of ocular abnormalities was found to be statistically significant (P=0.005). Recommendations As life expectancy for β-thalassemia patients extends, regular ophthalmologic evaluation to detect early changes in their ocular system is recommended.

Ophthalmic changes in cleft lip and palate

The current study aimed to analyze through a literature review evidence of association between ocular changes and non-syndromic cleft lip and/or palate (NSCL/P). A literature review was carried out in accordance with the Cochrane Collaboration Group protocol. PubMed, Scopus, Academic Google and ISI Web of Science databases were systematically searched. A total of 16 studies were accessed, and three made up the final sample.All three studied ocular abnormalities in patients with NSCL/P.The articles found ocular abnormalities in 6.21%, 17.54% and 1.03% of patients respectively.The presence of ocular abnormalities in patients with NSCL/P was significant in this systematic review, but the articles all agreed that future studies should explore the possibility of a greater occurrence of ocular changes in individuals with NSCL/P.

Ocular abnormalities in multi-transfused beta-thalassemia patients

Aims:The aim of this study was to assess ocular changes in thalassemia patients who have received multiple transfusions and chelate binding therapy in order to avoid iron accumulation.Settings and Design:A cross-sectional study.Subjects and Methods:A total of 54 thalassemia major patients were selected as case group, and 54 age- and sex-matched healthy subjects were regarded as a control group. Ocular examination included visual acuity, refraction testing, slit lamp examination, funduscopy, tonometry, perimetry, tear break-up time test, and color vision testing were performed for all the participants. We computed the frequency and duration of blood transfusion, the mean serum ferritin level, pretransfusion hemoglobin concentration, and type, duration, and daily dose of chelation therapy for thalassemia patients based on their records.Statistical Analysis Used:All data analysis was performed using SPSS, version 19.Results:All the thalassemic patients were asymptomatic, but abnormal ocular findings (dry eye (33.3%), cataract (10.2%), retinal pigment epithelium degeneration (16.7%), color vision deficiency (3.7%), and visual field defects (33.7%)) were seen in 68.5% of thalassemic group. The prevalence of ocular abnormalities in normal group was 19.4%, which was significantly lower than that in thalassemia patients (P = 0.000). No significant correlation was found between ocular abnormalities and mean serum ferritin level (P = 0.627) and mean hemoglobin concentration (P = 0.143). Correlation of number of blood transfusion with the presence of ocular abnormalities was found to be statistically significant (P = 0.005).Conclusions:As life expectancy for beta-thalassemia patients extends, regular ophthalmological evaluation to detect early changes in their ocular system is recommended.

Relation entre les manifestations ophtalmologiques et les atteintes générales chez dix patients atteints de la maladie de Fabry

To describe ocular manifestations in Fabry disease and compare them to other organ involvement in this disease. Ten patients were included in a clinical trial, all of whom had specialized investigations in ophthalmology, cardiology, nephrology and dermatology. All the patients presented with ocular damage, some of which were rather characteristic of this disease, such as cornea verticillata and spoke-like cataract. However, such anomalies were not responsible for any visual acuity changes in most patients. Some patients had renal or cardiovascular damage at early stages of the disease. We therefore tried to establish a correlation between the severity of such involvement and ocular damage. Many ocular manifestations are frequently observed that should suggest a diagnosis of Fabry disease. However, there is no clear relationship between the presentation of the systemic cardiac and renal manifestations of the disease and the presence of ocular abnormalities.

Grating acuity and visual-field development in children with intraventricular hemorrhage.

Visual development was studied in 171 preterm children who had intraventricular hemorrhage (IVH) and in 73 healthy preterm (HPT) children who did not develop IVH. Binocular grating acuity was assessed at age 1 month; monocular grating acuity and binocular visual-field extent were assessed at 4, 8, 12, 17, 24, 30, 36, and 48 months; and monocular H, O, T, V letter recognition acuity was tested at 36 and 48 months. A significantly greater proportion of IVH subjects than HPT subjects had ocular abnormalities. IVH subjects had significantly poorer grating acuity than HPT subjects at 1, 4, 8, 36, and 48 months, poorer recognition acuity than HPT subjects at 36 and 48 months, and smaller average field extent than HPT subjects at 4, 12, and 17 months. Acuity deficits were not related to grade of IVH or to the presence of periventricular leukomalacia, but may have been associated with the presence of ocular abnormalities or cerebral palsy in some IVH subjects.