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Ocular genetics

Phillip Dixon, Kristin Powell, Anuj Chauhan
Cystinosis is a genetic disorder that leads to the formation of cystine crystals in many organs in the body including cornea. Ocular manifestation of this disease is treated by eye drops of cysteamine which can easily oxidize into its disulfide cystamine. The rapid oxidation limits the shelf life as well the duration during which the drug can be used after opening the eye drop bottle. We evaluate two approaches of preventing the oxidation of cysteamine with the goal of increasing the time of use after opening the bottle to one month...
August 9, 2018: International Journal of Pharmaceutics
Charlotte C Kruijt, Gerard C de Wit, Arthur A Bergen, Ralph J Florijn, Nicoline E Schalij-Delfos, Maria M van Genderen
PURPOSE: To describe the phenotypic spectrum of a large cohort of albino patients, to investigate the relationship between the ocular abnormalities and the visual acuity, and to define diagnostic criteria for the Caucasian population. We also estimated the prevalence of albinism in the Netherlands. DESIGN: Retrospective cohort study. SUBJECTS: We investigated the phenotype of 522 albinism patients from the databases of Bartiméus (452 patients), Leiden University Medical Center (44 patients) and the Academic Medical Center Amsterdam (26 patients)...
August 8, 2018: Ophthalmology
Kazuhide Asakawa, Koichi Kawakami
Cranial motor nuclei in the brainstem innervate diverse types of head and neck muscles. Failure in establishing these neuromuscular connections causes congenital cranial dysinnervation disorders (CCDDs) characterized by abnormal craniofacial movements. However, mechanisms that link cranial motor nuclei to target muscles are poorly understood at the molecular level. Here, we report that protocadherin-mediated repulsion mediates neuromuscular connection in the ocular motor system in zebrafish. We identify pools of abducens motor neurons that are topographically arranged according to soma size and convergently innervate a single muscle...
August 7, 2018: Cell Reports
Kate Worthing, Stanley Pang, Darren J Trott, Sam Abraham, Geoffrey W Coombs, David Jordan, Liam McIntyre, Mark R Davies, Jacqueline Norris
This study used phenotypic tests and whole genome sequencing to characterise a collection of 37 clinical Staphylococcus felis isolates from cats. Samples were isolated from a range of diseases including feline lower urinary tract disease (n = 15), otitis externa (n = 13), and ocular disease (n = 2). Isolates were identified using MALDI-TOF MS and by BLASTn analysis of S. felis-specific 16S rRNA, rpoB and nuc genes in whole genome sequence-based contigs. Phenotypic antimicrobial resistance was determined using disk diffusion and broth microdilution...
August 2018: Veterinary Microbiology
Arif O Khan, Nisha Patel, Nicola G Ghazi, Shahad S Alzahrani, Stefan T Arold, Fowzan S Alkuraya
PURPOSE: The purpose of this study is to uncover the genetic cause for non-syndromic macular "coloboma" (pseudocoloboma) in three brothers from a consanguineous family. METHODS: Homozygosity mapping for the three affected brothers and whole-exome sequencing in one affected brother, followed by confirmatory Sanger sequencing and segregation analysis of the candidate gene for all immediate family members; molecular modeling of the candidate mutation; and review of clinical, imaging, and laboratory findings...
August 1, 2018: Ophthalmic Genetics
Tetsuya Sakurai, Takehito Uruno, Yuki Sugiura, Takaaki Tatsuguchi, Kazuhiko Yamamura, Miho Ushijima, Yuko Hattori, Mutsuko Kukimoto-Niino, Chiemi Mishima-Tsumagari, Mayuki Watanabe, Makoto Suematsu, Yoshinori Fukui
Although immune responses are essential to protect the body from infection, they can also harm tissues. Certain tissues and organs, including the eye, constitute specialized microenvironments that locally inhibit immune reactivity. Dedicator of cytokinesis protein 2 (DOCK2) is a Rac-specific guanine nucleotide exchange factor (GEF) that is predominantly found in hematopoietic cells. DOCK2 plays a key role in immune surveillance because it is essential for the activation and migration of leukocytes. DOCK2 mutations cause severe immunodeficiency in humans...
July 31, 2018: Science Signaling
Angelica C Scanzera, Ellen Shorter
SIGNIFICANCE: Familial dysautonomia is a rare genetic disorder that affects the sensory and autonomic nervous systems. Affected individuals have decreased corneal sensation and can develop serious complications from neurotrophic keratitis. Scleral devices are an excellent option for the long-term management of patients with familial dysautonomia and neurotrophic keratitis. PURPOSE: In this series, we describe three patients with familial dysautonomia and classic ocular complications fit with scleral devices...
July 30, 2018: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Anna Ryabets-Lienhard, Satja Issaranggoon Na Ayuthaya, John M Graham, Pisit Pitukcheewanont
Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is a rare autosomal recessive disorder attributed to the mutations in the tubulin-specific chaperone E (TBCE) gene, which is vital for microtubule function during mitosis, organelle positioning, and neuronal cytokinesis. HRD is a congenital syndromic hypoparathyroidism associated with growth deficiency, microcephaly, intellectual disability, ocular anomalies, and facial dysmorphism. To our knowledge, there is only one published case of mild HRD-like syndrome with no identifiable genetic etiology...
July 28, 2018: American Journal of Medical Genetics. Part A
Si-Si Zheng, Ru-Yi Han, Lue Xiang, You-Yuan Zhuang, Zi-Bing Jin
Over recent decades, zebrafish has been established as a sophisticated vertebrate model for studying human ocular diseases due to its high fecundity, short generation time and genetic tractability. With the invention of morpholino (MO) technology, it became possible to study the genetic basis and relevant genes of ocular diseases in vivo . Many genes have been shown to be related to ocular diseases. However, the issue of specificity is the major concern in defining gene functions with MO technology. The emergence of the first- and second-generation genetic modification tools zinc-finger nucleases (ZFNs) and TAL effector nucleases (TALENs), respectively, eliminated the potential phenotypic risk induced by MOs...
2018: Frontiers in Cell and Developmental Biology
Jordi Díaz-Manera, Sabina Luna, Carles Roig
PURPOSE OF REVIEW: The current article provides a brief summary of the clinical approach to congenital and acquired ptosis. An increasing number of publications analyze causes of ptosis or describe diagnostic tests or advances in ptosis genetics. The aim of our work is to summarize these findings and provide an updated algorithm for the diagnosis and treatment of patients with ptosis. This review covers important clinical research and studies relevant for neurologists recently published...
July 25, 2018: Current Opinion in Neurology
Nitin Nema, Sonam Verma, Ravindra Kumar
PURPOSE: Thromboembolic phenomenon is one of the causes of retinal vein occlusion (RVO) which is in fact a multifactorial disease. Therefore, we aimed to study methylenetetrahydrofolate reductase gene polymorphism (MTHFR C677T) and factor V Leiden as genetic risk factors of RVO. MATERIALS AND METHODS: A total of 50 (19 males and 31 females) cases of RVO were compared with 50 age- and sex-matched (21 males and 29 females) controls. Complete ocular examination was done for all samples...
April 2018: Taiwan Journal of Ophthalmology
Eric D Schadler, Bernhard Ortel, Stephanie L Mehlis
Psoriasis is a chronic, systemic, inflammatory disease that affects approximately 7.5 million people in the United States. The disease results in significant suffering, morbidity, and economic impact. Psoriasis is considered a multifaceted disease with a strong genetic component. Genetic data has revealed the presence of particular risk alleles found in patients with psoriasis. Triggers of the disease have been elucidated and include factors such as trauma, obesity, infection, stress, and medications. At its core, psoriasis is a result of a dysfunctional immune response with T-cells at the center of immunogenesis...
July 20, 2018: Disease-a-month: DM
Arianna Prince, Matthew R Norris, Leonard Bielory
PURPOSE OF REVIEW: The purpose of the article is to provide a historical overview of literature regarding pollen sensitization and ocular allergy with an emphasis on developments that have occurred over the past 5 years. RECENT FINDINGS: Currently, pollen studies have examined the molecular and cellular pathways involved in initiating allergic conjunctivitis to find targets for therapeutics. Studies have also documented the threshold, linear increase and plateau point in the relationship between pollen levels and allergic conjunctivitis symptoms...
July 16, 2018: Current Opinion in Allergy and Clinical Immunology
Guangzhou An, Kazuko Omodaka, Satoru Tsuda, Yukihiro Shiga, Naoko Takada, Tsutomu Kikawa, Toru Nakazawa, Hideo Yokota, Masahiro Akiba
This study develops an objective machine-learning classification model for classifying glaucomatous optic discs and reveals the classificatory criteria to assist in clinical glaucoma management. In this study, 163 glaucoma eyes were labelled with four optic disc types by three glaucoma specialists and then randomly separated into training and test data. All the images of these eyes were captured using optical coherence tomography and laser speckle flowgraphy to quantify the ocular structure and blood-flow-related parameters...
2018: Journal of Healthcare Engineering
Atukorallaya Devi Sewvandini Atukorala, Tamara Anne Franz-Odendaal
The phenotype of lens-ablated Mexican tetra (Astyanax mexicanus) compared to wild-type surface fish has been described and includes, among other effects, eye degeneration, changes in tooth number and cranial bone changes. Here, we investigate the spatiotemporal expression patterns of several key genes involved in the development of these structures. Specifically, we show that the expression of pitx2, bmp4 and shh is altered in the eye, oral jaw, nasal pit and forebrain in these lens-ablated fish. Furthermore, for the first time, we show altered pitx2 expression in the cavefish, which also has altered eye and tooth phenotypes...
July 11, 2018: Developmental Biology
Jennifer Thomson, Mukti Singh, Alexander Eckersley, Stuart A Cain, Michael J Sherratt, Clair Baldock
Fibrillin microfibrils are extensible polymers that endow connective tissues with long-range elasticity and have widespread distributions in both elastic and non-elastic tissues. They act as a template for elastin deposition during elastic fibre formation and are essential for maintaining the integrity of tissues such as blood vessels, lung, skin and ocular ligaments. A reduction in fibrillin is seen in tissues in vascular ageing, chronic obstructive pulmonary disease, skin ageing and UV induced skin damage, and age-related vision deterioration...
July 20, 2018: Seminars in Cell & Developmental Biology
Xinhua Huang, Ying Lin, Chuan Chen, Yi Zhu, Hongbin Gao, Tao Li, Bingqian Liu, Cancan Lyu, Ying Huang, Qingxiu Wu, Haichun Li, Chenjin Jin, Xiaoling Liang, Lin Lu
Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early‑onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested as bilateral retinal detachment and peripheral retinal degeneration. Complete ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination and fundus examination, were performed. Genomic DNA was extracted from leukocytes of the peripheral blood collected from the patients, their unaffected family members and 200 unrelated control subjects from the same population...
October 2018: International Journal of Molecular Medicine
Yanghui Xiu, Yihua Yao, Tanchu Yang, Meihua Pan, Hui Yang, Weifang Fang, Feng Gu, Junzhao Zhao, Yihua Zhu
Exploring the genetic basis for idiopathic congenital nystagmus is critical for improving our understanding of its molecular pathogenesis. In the present study, direct sequencing using gene specific primers was performed in order to identify the causative mutations in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. A comprehensive ophthalmological examination, including eye movement recordings, fundus examination, and retinal optical coherence tomography imaging was also conducted, to characterize the disease phenotype...
September 2018: Molecular Medicine Reports
Hilal Kaya Erdogan, Isil Bulur, Evin Kocaturk, Zeynep Nurhan Saracoglu, Ozkan Alatas, Muzaffer Bilgin
Introduction: Rosacea is a chronic, inflammatory dermatosis which develops due to the effect of genetic and environmental factors. Aim: To evaluate the oxidative stress in rosacea patients by measuring serum total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI) and advanced oxidation protein products (AOPP) levels in our study. Material and methods: Our study included rosacea patients and healthy volunteers aged between 18 and 65 years...
June 2018: Postȩpy Dermatologii i Alergologii
Andrew Tsin, Brandi Betts-Obregon, Jeffery G Grigsby
Here, we seek to summarize the current understanding of the biochemical and molecular events mediated by visual cycle molecules in the eye. The structures and functions of selected visual cycle proteins and their roles in human retinal diseases are also highlighted. Genetic mutations and malfunctions of these proteins provide etiological evidence that many ocular diseases arise from anomalies of retinoid (vitamin A) metabolism and related visual processes. Genetic retinal disorders such as retinitis pigmentosa, Leber congenital amaurosis, and Stargardt's disease are linked to structural changes in visual cycle proteins...
July 12, 2018: Journal of Biological Chemistry
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