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Ocular genetics

Sandra Gofinet Pasoto, Victor Adriano de Oliveira Martins, Eloisa Bonfa
Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) may coexist, and they are chronic complex disorders, with an autoimmune background, multifactorial etiology, multiple circulating autoantibodies, and variable prognosis. The prominent feature of SS is the impairment of the lacrimal and salivary glands leading to sicca symptoms. This disease may be classified as primary Sjögren's syndrome (pSS), or secondary Sjögren's syndrome (sSS) since it is often associated to other autoimmune disorders, principally SLE, rheumatoid arthritis, and systemic sclerosis...
2019: Open Access Rheumatology: Research and Reviews
Alessia Catania, Andrea Legati, Lorenzo Peverelli, Lorenzo Nanetti, Silvia Marchet, Nadia Zanetti, Costanza Lamperti, Daniele Ghezzi
Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, ataxia, combined pituitary hormone deficiency, associated with mitochondrial impairment. Targeted clinical exome sequencing led to the identification of a homozygous missense variant in OTX2. Since only dominant mutations within OTX2 have been associated with cases of syndromic microphthalmia, retinal dystrophy with or without pituitary dysfunctions, this represents the first report of an OTX2 recessive mutation...
February 17, 2019: American Journal of Medical Genetics. Part A
Phuong T Lam, Stephanie L Padula, Thanh V Hoang, Justin E Poth, Lin Liu, Chun Liang, Adam S LeFever, Lindsay M Wallace, Ruth Ashery-Padan, Penny K Riggs, Jordan E Shields, Ohad Shaham, Sheldon Rowan, Nadean L Brown, Tom Glaser, Michael L Robinson
BACKGROUND: Despite a number of different transgenes that can mediate DNA deletion in the developing lens, each has unique features that can make a given transgenic line more or less appropriate for particular studies. The purpose of this work encompasses both a review of transgenes that lead to the expression of Cre recombinase in the lens and a comparative analysis of currently available transgenic lines with a particular emphasis on the Le-Cre and P0-3.9GFPCre lines that can mediate DNA deletion in the lens placode...
February 15, 2019: Human Genomics
Angell Shi, Alex V Levin
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the characterization of these clinical features and the genetic basis of the syndrome. MATERIALS AND METHODS: We included 37 articles that were identified through an electronic search in PubMed and through the reference lists of previously conducted reviews...
February 15, 2019: Ophthalmic Genetics
Weilin Chan, Janey L Wiggs, Lucia Sobrin
PURPOSE: To provide evidence that corticosteroid-induced ocular hypertension has a genetic component. DESIGN: Evidence-based Perspective. METHODS: We conducted a comprehensive literature search for studies exploring genetic influences on intraocular pressure responses to corticosteroid treatment. RESULTS: Studies demonstrating increased risk of corticosteroid-induced ocular hypertension among first-degree relatives of affected individuals support a genetic contribution to the disease...
February 11, 2019: American Journal of Ophthalmology
J Plaisancié, F Ceroni, R Holt, C Zazo Seco, P Calvas, N Chassaing, Nicola K Ragge
Eye formation is the result of coordinated induction and differentiation processes during embryogenesis. Disruption of any one of these events has the potential to cause ocular growth and structural defects, such as anophthalmia and microphthalmia (A/M). A/M can be isolated or occur with systemic anomalies, when they may form part of a recognizable syndrome. Their etiology includes genetic and environmental factors; several hundred genes involved in ocular development have been identified in humans or animal models...
February 14, 2019: Human Genetics
Ana Luisa Quintella do Couto Aleixo, Raquel Vasconcelos C de Oliveira, Maíra Cavalcanti Albuquerque, Ana Luiza Biancardi, André Luiz Land Curi, Eliezer Israel Benchimol, Maria Regina Reis Amendoeira
PURPOSE: To analyze risk factors for recurrent toxoplasmic retinochoroiditis. DESIGN: Single center prospective case series. POPULATION AND METHODS: A total of 230 patients with toxoplasmic retinochoroiditis were prospectively followed to assess recurrences. All patients were treated with a specific drug regime for toxoplasmosis in each episode of active retinochoroiditis. Individuals with chronic diseases and pregnant women were excluded...
2019: PloS One
Marie-Hélène Lafage-Proust, Isabelle Courtois
Osteogenesis imperfecta (OI) is a genetic disease whose clinical phenotype and severity vary considerably. The increased risk of fractures due to bone fragility persists in adulthood, notably after 40 years of age, albeit at a lower level than during growth. Adults with OI require periodic evaluations of the other manifestations of OI including hearing loss, respiratory impairments, ocular and dental abnormalities, and cardiovascular disease. Follow-up should therefore be provided by a multidisciplinary team, at intervals tailored to disease severity...
February 8, 2019: Joint, Bone, Spine: Revue du Rhumatisme
Rinki Ratnapriya, Olukayode A Sosina, Margaret R Starostik, Madeline Kwicklis, Rebecca J Kapphahn, Lars G Fritsche, Ashley Walton, Marios Arvanitis, Linn Gieser, Alexandra Pietraszkiewicz, Sandra R Montezuma, Emily Y Chew, Alexis Battle, Gonçalo R Abecasis, Deborah A Ferrington, Nilanjan Chatterjee, Anand Swaroop
Genome-wide association studies (GWAS) have identified genetic variants at 34 loci contributing to age-related macular degeneration (AMD)1-3 . We generated transcriptional profiles of postmortem retinas from 453 controls and cases at distinct stages of AMD and integrated retinal transcriptomes, covering 13,662 protein-coding and 1,462 noncoding genes, with genotypes at more than 9 million common SNPs for expression quantitative trait loci (eQTL) analysis of a tissue not included in Genotype-Tissue Expression (GTEx) and other large datasets4,5 ...
February 11, 2019: Nature Genetics
Barbara Käsmann-Kellner, Kayed Moslemani, Berthold Seitz
To control the development of the ocular phenotype, several coordinated steps of temporally- and spatially-organized networked triggers (inductions) are necessary. This is regulated at the level of transcription. Crucial here are the so-called master genes or DNA-binding transcription factors PAX6, FOXC1, SOX2, FOXE3, OTX2, PITX2 and PAX2. Depending on the disease phenotype, it is possible to conclude on the gestational period in which ocular development was profoundly disrupted. The so-called neural crest cells contribute significantly to the development of eye structures, especially of the anterior segment...
February 8, 2019: Klinische Monatsblätter Für Augenheilkunde
Xiaojuan Chen, Hudie Wei, Jun Li, Xujun Liang, Shuyan Dai, Longying Jiang, Ming Guo, Lingzhi Qu, Zhuchu Chen, Lin Chen, Yongheng Chen
The FOXC family of transcription factors (FOXC1 and FOXC2) plays essential roles in the regulation of embryonic, ocular, and cardiac development. Mutations and abnormal expression of FOXC proteins are implicated in genetic diseases as well as cancer. In this study, we determined two crystal structures of the DNA-binding domain (DBD) of human FOXC2 protein, in complex with different DNA sites. The FOXC2-DBD adopts the winged-helix fold with helix H3 contributing to all the base specific contacts, while the N-terminus, wing 1, and the C-terminus of FOXC2-DBD all make additional contacts with the phosphate groups of DNA...
February 5, 2019: Nucleic Acids Research
Anh Lan Thi Luong, Thuong Thi Ho, Ha Hoang, Trung Quang Nguyen, Tu Cam Ho, Phan Duc Tran, Thuy Thi Hoang, Nam Trung Nguyen, Hoang Ha Chu
Crouzon syndrome is a rare autosomal dominant genetic disorder, which causes the premature fusion of the cranial suture. Fibroblast growth factor receptor 2 (FGFR2) mutations are well-known causatives of Crouzon syndrome. The current study aimed to assess the FGFR2 gene associated with Crouzon syndrome in a Vietnamese family of three generations and to characterize their associated clinical features. The family included in the present study underwent complete clinical examination. A patient was clinically examined and presented with typical features of Crouzon syndrome including craniosynostosis, shallow orbits, ocular proptosis and midface hypoplasia...
February 2019: Biomedical Reports
Mykyta Artomov, Vijai Joseph, Grace Tiao, Tinu Thomas, Kasmintan Schrader, Robert J Klein, Adam Kiezun, Namrata Gupta, Lauren Margolin, Alexander J Stratigos, Ivana Kim, Kristen Shannon, Leif W Ellisen, Daniel Haber, Gad Getz, Hensin Tsao, Steven M Lipkin, David Altshuler, Kenneth Offit, Mark J Daly
Along with traditional effects of aging and carcinogen exposure-inherited DNA variation has substantial contribution to cancer risk. Extraordinary progress made in analysis of common variation with GWAS methodology does not provide sufficient resolution to understand rare variation. To fulfill missing classification for rare germline variation we assembled dataset of whole exome sequences from>2000 patients (selected cases tested negative for candidate genes and unselected cases) with different types of cancers (breast cancer, colon cancer, and cutaneous and ocular melanomas) matched to more than 7000 non-cancer controls and analyzed germline variation in known cancer predisposing genes to identify common properties of disease-associated DNA variation and aid the future searches for new cancer susceptibility genes...
February 4, 2019: European Journal of Human Genetics: EJHG
C Papadopoulou, E Omoyinmi, A Standing, C E Pain, C Booth, F D'Arco, K Gilmour, M Buckland, D Eleftheriou, P A Brogan
Objectives: Monogenic autoinflammatory disorders (AID) and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to retrospectively describe the clinical and laboratory features of 11 paediatric cases referred for suspected BD who turned out to have an alternative, monogenic disease mimicking BD. Methods: Retrospective, paediatric BD specialist multicentre case series. Next generation sequencing (NGS) or conventional candidate gene screening approaches were utilized, facilitated in some cases by functional assays...
January 30, 2019: Rheumatology
F de Borja Domínguez-Serrano, E Jiménez-López, M Ramos Jiménez, B Ponte-Zuñiga, A Gómez-Escobar, M J Díaz-Granda, E Gutiérrez-Sánchez, M J Morillo-Sánchez, C Menéndez-de-León, E Rodríguez-de-la-Rúa-Franch
BACKGROUND AND OBJECTIVE: The diagnosis of retinal dystrophies is complex and is based on complete ophthalmological study, genetic study and electrophysiological studies (EPS). In this study, we intend to evaluate the role of electrophysiological and medical tests in the diagnosis of retinal dystrophies. MATERIAL AND METHODS: A retrospective observational study was conducted on 50 selected patients that attended the Neurophysiology Department of the University Hospital Virgen Macarena...
January 30, 2019: Archivos de la Sociedad Española de Oftalmología
Olavi Pärssinen, Markku Kauppinen, Ulrich Halekoh, Jaakko Kaprio, Taina Rantanen
PURPOSE: To examine genetic influences on interocular similarities in ocular refraction and components of refraction among elderly female twins. METHODS: Refraction was assessed in 94 monozygotic (MZ) and 74 dizygotic (DZ) female twins aged 66-78 years. Absolute values of interocular differences (Aniso variables) in spherical refraction (SR), refractive astigmatism (AST), spherical equivalent (SE), corneal refractive power (CR), corneal astigmatism (CAST), anterior chamber depth (ACD) and axial length (AL) were calculated...
January 31, 2019: Acta Ophthalmologica
Karen Grønskov, Cathrine Jespersgaard, Gitte Hoffmann Bruun, Pernille Harris, Karen Brøndum-Nielsen, Brage S Andresen, Thomas Rosenberg
Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. Six genes are associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and LRMDA), and one gene, GPR143, is associated with X-linked ocular albinism (OA). Molecular genetic analysis provides a genetic diagnosis in approximately 60% of individuals with clinical OA/OCA. A considerably number of the remaining 40% are heterozygous for a causative sequence variation in TYR. To identify missing causative sequence variants in these, we used a NGS based approach, genotyping and segregation analysis...
January 24, 2019: Scientific Reports
Pete A Williams, Catherine E Braine, Krishnakumar Kizhatil, Nicole E Foxworth, Nicholas G Tolman, Jeffrey M Harder, Rebecca A Scott, Gregory L Sousa, Alyssa Panitch, Gareth R Howell, Simon W M John
BACKGROUND: Glaucoma is characterized by the progressive dysfunction and loss of retinal ganglion cells. Recent work in animal models suggests that a critical neuroinflammatory event damages retinal ganglion cell axons in the optic nerve head during ocular hypertensive injury. We previously demonstrated that monocyte-like cells enter the optic nerve head in an ocular hypertensive mouse model of glaucoma (DBA/2 J), but their roles, if any, in mediating axon damage remain unclear. METHODS: To understand the function of these infiltrating monocyte-like cells, we used RNA-sequencing to profile their transcriptomes...
January 22, 2019: Molecular Neurodegeneration
Francisco Cammarata-Scalisi, Elanur Yilmaz, Michele Callea, Andrea Avendaño, Ercan Mıhçı, Ozgul M Alper
Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Case report: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present...
2019: Boletín Médico del Hospital Infantil de México
Georg Brenneis, Claudia P Arango
Background: Sea spiders (Pycnogonida) are an abundant faunal element of the Southern Ocean (SO). Several recent phylogeographical studies focused on the remarkably diverse SO pycnogonid fauna, resulting in the identification of new species in previously ill-defined species complexes, insights into their genetic population substructures, and hypotheses on glacial refugia and recolonization events after the last ice age. However, knowledge on the life history of many SO pycnogonids is fragmentary, and early ontogenetic stages often remain poorly documented...
2019: Zoological Letters
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