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Ocular genetics

E M Messmer
BACKGROUND: Neurotrophic keratopathy is characterized by corneal surface alterations, persistent corneal epithelial defects and/or corneal ulcerations associated with corneal sensory abnormalities. Due to the variable clinical picture neurotrophic keratopathy is often overlooked or diagnosed too late in the course of the disease. OBJECTIVE: Discussion of the clinical picture of neurotrophic keratopathy and recommendations for correct diagnosis. MATERIAL AND METHODS: Analysis of the existing literature and discussion of basic recent publications...
December 7, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
X Raymond Gao, Hua Huang, Heejin Kim
The macula, located near the center of the retina in the human eye, is responsible for providing critical functions, such as central, sharp vision. Structural changes in the macula are associated with many ocular diseases, including age-related macular degeneration (AMD) and glaucoma. Although macular thickness is a highly heritable trait, there are no prior reported genome-wide association studies (GWASs) of it. Here, we describe the first GWAS of macular thickness, which was measured by spectral-domain optical coherence tomography using 68,423 participants from the UK Biobank cohort...
December 7, 2018: Human Molecular Genetics
Badr O Alahmadi, Amro A Omari, Maria Fernanda Abalem, Chris Andrews, Dana Schlegel, Kari H Branham, Naheed W Khan, Abigail Fahim, Thiran Jayasundera
BACKGROUND: Patients with retinal diseases frequently complain of poor visual function even when visual acuity is relatively unaffected. This clinical finding has been attributed to deficits in contrast sensitivity (CS). The purpose of our study was to evaluate the CS in patients with clinical and genetic diagnosis of inherited retinal degeneration (IRD) and relatively preserved visual acuity. METHODS: Seventeen patients (30 eyes) with IRD and visual acuity of 20/40 or better, and 18 controls (18 eyes) without any ocular condition underwent slit lamp examination, visual acuity testing via standard Snellen chart testing, CS testing via the Quick Contrast Sensitivity Function (QCSF), and Spectral Domain Optical Coherence Tomography (SD-OCT)...
December 7, 2018: BMC Ophthalmology
Jenna I Wurster, Paulo J M Bispo, Daria Van Tyne, James J Cadorette, Rick Boody, Michael S Gilmore
Staphylococcus aureus is an important human pathogen that causes serious antibiotic-resistant infections. Its population structure is marked by the appearance and dissemination of successful lineages across different settings. To begin understanding the population structure of S. aureus causing ocular and otolaryngology infections, we characterized 262 isolates by antimicrobial sensitivity testing and multilocus sequence typing (MLST). Methicillin-resistant S. aureus were subjected to SCCmec typing and Panton-Valentine leukocidin (PVL) screening...
2018: PloS One
Cecilia Chao, Lakshmi Akileswaran, Jessica N Cooke Bailey, Mark Willcox, Russell Van Gelder, Carol Lakkis, Fiona Stapleton, Kathryn Richdale
Purpose: The purpose of this study was to explore differences in genotype, ocular surface microbiome, tear inflammatory markers, and environmental and behavioral exposures in soft contact lens (SCL) wearers with and without a history of corneal infiltrative events (CIEs). Methods: Nine SCL wearers with a recent CIE and nine age-, sex-, and SCL material- and modality-matched controls were enrolled. The Contact Lens Risk Survey, slit-lamp examination data, basal tears, conjunctival microbial cultures, and peripheral blood samples were collected...
December 3, 2018: Investigative Ophthalmology & Visual Science
Hadla Hariri, Mazen Kurban, Christiane Al-Haddad, Akl C Fahed, Sarin Poladian, Athar Kahlil, Oussama Abbas, Mariam Arabi, Fadi Bitar, Georges Nemer
BACKGROUND: Cutaneous malformations are at times associated with some forms of congenital heart defects. Many a times subtle cutaneous phenotypes maybe overlooked as their significance on the lives of individuals is minimal. Lebanon represents an area of high consanguinity, where the rates can go beyond 70% in some districts. For the past 6 years, we have been studying several genodermatoses in Lebanon including those with cardiac malformations. OBJECTIVES: The main aim of this study is to document the genetic basis of a familial case of Axenfeld-Rieger Syndrome (ARS) with a mild cutaneous phenotype represented histologically with degeneration/ absence of hair follicles and incomplete formation of sebaceous and eccrine glands, in addition to the cardiac and ocular phenotypes...
November 10, 2018: Journal of Dermatological Science
Edouard Baulier, Alejandro Garcia Diaz, Barbara Corneo, Debora B Farber
Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. This new iPSC line will allow a better understanding of the Ocular Albinism type 1 disease and to screen for potential therapeutic candidates.
November 28, 2018: Stem Cell Research
Zhongxiao Wang, Chi-Hsiu Liu, Shuo Huang, Jing Chen
The Wnt signaling pathway plays a pivotal role in vascular morphogenesis in various organs including the eye. Wnt ligands and receptors are key regulators of ocular angiogenesis both during the eye development and in vascular eye diseases. Wnt signaling participates in regulating multiple vascular beds in the eye including regression of the hyaloid vessels, and development of structured layers of vasculature in the retina. Loss-of-function mutations in Wnt signaling components cause rare genetic eye diseases in humans such as Norrie disease (ND), and familial exudative vitreoretinopathy (FEVR) with defective ocular vasculature...
December 1, 2018: Progress in Retinal and Eye Research
Vasudha Kemmanu, Subramanya K Giliyar, Harsha L Rao, Bhujanga K Shetty, Govindasamy Kumaramanickavel, Catherine A McCarty
To determine the association of consanguinity with the occurrence of genetically transmitted eye diseases in rural and urban populations in Pavagada and Madhugiri taluks, Karnataka state, south India. This study was part of a population based cross-sectional prevalence survey, "The Pavagada pediatric eye disease study 2." As a part of the demographic data, trained investigators collected information on consanguinity from the parents of children identified for the study. The children underwent visual acuity measurements and were examined by an ophthalmologist...
December 1, 2018: Journal of Community Genetics
Takehiro Yamashita, Aiko Iwase, Hiroshi Sakai, Hiroto Terasaki, Taiji Sakamoto, Makoto Araie
PURPOSE: To determine the relationships between the axial length (AL), refractive error (RE), and body height (BH) at different ages of a genetically-stable population in Kumejima, Japan. METHODS: Cross-sectional, population-based study. Residents of Kumejima who were ≥ 40-years old were studied. The eligible residents had a thorough ocular examinations including measurements of the AL, RE, and BH. The subjects were divided into decade groups. The relationships between the AL, the RE, and the BH of the different decades were determined...
November 30, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Hamid-Reza Moein, Hajirah N Saeed, Deborah S Jacobs, Yuna Rapoport, Michael K Yoon, Ankoor S Shah, Haumith Khan, Duna Raoof, Ula V Jurkunas
Purpose: Chromosome 22q11.2 micro-duplication syndrome (MDS), is a rare autosomal dominant condition, with a highly variable phenotype that ranges from unremarkable and asymptomatic, to fatal due to cardiovascular defects. Hypertelorism, downslanting palpebral fissures, superior displacement of the eyebrows, and ptosis are the most commonly reported ocular manifestations. Here, we report a newborn with bilateral exposure, entropion, and corneal ulceration related to 22q11.2 MDS. Observation: A newborn girl presented with bilateral upper eyelid entropion, bilateral lower eyelid ectropion, and lagophthalmos...
March 2019: American Journal of Ophthalmology Case Reports
Joanna Brydak-Godowska, Katarzyna Moskal, Piotr K Borkowski, Mariusz Przybyś, Monika Turczyńska, Dariusz Kęcik
BACKGROUND This study aimed to review the causes, presentation, and clinicopathological associations of uveitis in a single department of ophthalmology in Poland, and to compare the findings with previously published studies from other European countries. MATERIAL AND METHODS Review of local patient records between 2005-2015 identified patients diagnosed with uveitis. Data obtained included age, gender, imaging findings, and laboratory diagnostic findings. A literature review identified 24 publications from 1976-2017 that reported observational data from patients with uveitis in Europe...
December 3, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Nicolas Cadet, Pi-Chun Huang, Rosanne Superstein, Robert Koenekoop, Robert F Hess
OBJECTIVE: Both genetic and environmental factors are thought to play a role in the pathogenesis of strabismus and subsequent ocular dominance and amblyopia. Our purpose was to compare the characteristics of sensory visual function in 2 adult monozygotic (genetically identical) twins who presented with esotropia at different ages. METHODS: Monocular and binocular visual function was measured in the twins. Contrast sensitivity was used to assess monocular function...
December 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Rafael Guerra, Ricardo Cabeças, Jesus Diaz, Tim Knott, Inês Freitas, Hugo Vilhena, Sofia Duarte
Cataracts are among the most common ocular diseases, and are a leading cause of vision loss in humans and dogs. Jack Russell Terriers (JRT) and Labrador Retrievers (LR) are among the most popular canine breeds in the United Kingdom, and also among the most affected by cataracts. This study aimed to analyze the clinical features and the surgical outcome of cataracts in JRT and LR in an ophthalmologic reference Veterinary Hospital in the United Kingdom. For that purpose, medical records from JRT and LR diagnosed with cataracts between January 2015 and December 2016 were retrospectively evaluated...
December 2018: Topics in Companion Animal Medicine
T V Smirnova, V M Sheludchenko, N L Kozlovskaya, E E Kazaryan, D V Andzhelova, L V Sherstneva, I A Velieva, A M Kuchieva, M I Akaeva
The article presents a clinical observation of ocular thrombotic microangiopathy in atypical hemolytic-uremic syndrome - a rare genetic disease characterized by systemic thrombosis caused by uncontrolled activation of alternative complement pathway. A typical manifestation of this ocular lesion in this disease is bilateral Purtscher-like retinopathy. Timely diagnostics of atypical hemolytic-uremic syndrome, including ophthalmologic examination, determines the early start of a highly effective pathogenetic therapy with complement inhibitor eculizumab...
2018: Vestnik Oftalmologii
Daniel Schmidtke, Charlotte Lempp, Marko Dubicanac, Ute Radespiel, Elke Zimmermann, Wolfgang Baumgärtner, Sabine Kästner, Martin Meier, Anne Balkema-Buschmann, R Alan Harris, Muthuswamy Raveendran, Donna M Muzny, Kim C Worley, Jeffrey Rogers
Here we report a case of severe growth retardation and neurologic abnormalities in a female gray mouse lemur (Microcebusmurinus), a small NHP species for which the genomic sequence recently became available. The female lemur we present heredied on postnatal day 125. This lemur had impaired development of motor skills and showed severe ataxia and tremors. In addition, hearing seemed normal whereas ophthalmic examination revealed incipient bilateral cataracts, abnormal pigmentation in the lens of the left eye, and a missing optokinetic nystagmus, which indicated impaired vision...
November 28, 2018: Comparative Medicine
Song Hee Oh, Ju Han Kang, Ju Hee Kang, Yu-Kyeong Seo, Sae Rom Lee, Yong-Suk Choi, Eui-Hwan Hwang
Oculofaciocardiodental (OFCD) syndrome is a rare genetic disease, first reported by Hayward in 1980. This syndrome presents with various ocular, facial, cardiac, and dental symptoms, including congenital cataract, dysmorphic facial features, congenital heart disease, and enlarged roots, respectively. The most important criteria for the diagnosis of OFCD syndrome are dental abnormalities, especially extreme elongation of canine roots. Here, we report detailed analysis of the dentofacial region, as well as ocular, facial, cardiac, and dental findings in a female with OFCD syndrome...
October 30, 2018: Oral Radiology
Ashkan Faridi, Amir Tavakoli Kareshk, Mehdi Fatahi-Bafghi, Mahsa Ziasistani, Mohammad Reza Kandehkar Ghahraman, Seyedeh Zeinab Seyyed-Yousefi, Noshin Shakeri, Davood Kalantar-Neyestanaki
Background and Objectives: Staphylococcus aureus is the main Gram-positive bacteria isolated from patients with ocular infections. Herein, we describe the pattern of antibiotic resistance, presence of resistance genes including ermA, ermB, ermC, msrA, mecA and the pvl cytotoxin gene in S. aureus isolates collected from patients with external ocular infection. Materials and Methods: In this study, 8 S. aureus isolates were collected from 81 patients that suffered from eye damage...
August 2018: Iranian Journal of Microbiology
Mayumi Ueta
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are acute inflammatory vesiculobullous reactions of the mucosa of the ocular surface, oral cavity, and genitals, and of the skin. Severe ocular complications (SOC) are present in about half of SJS/TEN patients diagnosed by dermatologists. We review our group's findings on the genetic predisposition for and the etiology of SJS/TEN with SOC. We suspected that abnormal innate mucosal immunity, resulting in an anomalous response to commensal bacteria that usually do not elicit such a response, contributes to the ocular surface inflammation seen in SJS/TEN with SOC...
November 1, 2018: Investigative Ophthalmology & Visual Science
Zhening Pu, Haoliang Sun, Junjie Du, Yue Cheng, Keshuai He, Buqing Ni, Weidong Gu, Juncheng Dai, Yongfeng Shao
Background: Marfan syndrome (MFS) is an inherited connective tissue disorder affecting the ocular, skeletal and cardiovascular systems. Previous studies of MFS have demonstrated the association between genetic defects and clinical manifestations. Our purpose was to investigate the role of novel genetic variants in determining MFS clinical phenotypes. Methods: We sequenced the whole exome of 19 individuals derived from three Han Chinese families. The sequencing data were analyzed by a standard pipeline...
2018: PeerJ
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