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Ocular genetics

Arash Salmaninejad, Mohammad Reza Zamani, Arezoo Gowhari Shabgah, Seyedmojtaba Hosseini, Fatemeh Mollaei, Nayyerehalsadat Hosseini, Amirhossein Sahebkar
Behçet's disease (BD) is a chronic and rare multisystemic disorder defined by autoimmunity and inflammatory characteristics, manifested by ocular lesions, recurrent genital and oral ulcers, skin symptoms and arthritis as well as neurological, intestinal, and vascular involvement. Despite the unknown cause of BD, there is some strong documentation for immunological, genetic, environmental, and infectious factors playing a role in the pathogenesis of BD. While the nature of the genetic variants remains unidentified, many genetic risk factors are considered to contribute to BD susceptibility...
October 20, 2018: Journal of Cellular Physiology
Yan Wang, Yi-Fan Zhou, Na Shen, Yao-Wu Zhu, Kun Tan, Xiong Wang
Oculocutaneous albinism (OCA) is an autosomal recessive pigmentation abnormality, characterized by variable hair, skin, and ocular hypopigmentation. OCA1 is the most frequent subtype of OCA, caused by mutations in the tyrosinase gene (TYR). In this study, we investigated the genetic mutation of a Chinese family with a female OCA patient who came for genetic counseling before pregnancy. Complete physical examination was performed, and DNA from blood samples was collected from the family members. Mutations of TYR, OCA2, and SLC45A2 genes were examined in the proband, and verified in her parents by Sanger sequencing...
October 2018: Current medical science
Laryssa A Huryn, Amy Turriff, Laura A Harney, Ann Garrity Carr, Patricia Chevez-Barrios, Dan S Gombos, Radha Ram, Robert B Hufnagel, D Ashley Hill, Wadih M Zein, Kris Ann P Schultz, Rachel Bishop, Douglas R Stewart
PURPOSE: To characterize the ocular phenotype of DICER1 syndrome DESIGN: Prospective, single-center, case-control study SUBJECTS, PARTICIPANTS, AND/OR CONTROLS: One hundred and three patients with an identified germline, pathogenic DICER1 variant (DICER1-carriers) and 69 family control subjects underwent clinical and ophthalmic examination at the National Institutes of Health between 2011 and 2016. METHODS: All participants were evaluated with a comprehensive ophthalmic exam including best corrected visual acuity, slit-lamp biomicroscopy and a dilated fundus examination...
October 16, 2018: Ophthalmology
Benjamin Yerxa
Ophthalmic drug discovery and development has enjoyed a recent renaissance, with a major shift away from reformulating old systemic drugs for ocular use to de novo discovery of drugs for specific ocular disease targets. This shift, coupled with a revolution in molecular biology and genetic sequencing, has uncovered an unprecedented number and variety of novel targets for therapeutic intervention in eye disease. With such a treasure chest of new science to pursue, it also creates a new challenge for translating the lab-based discoveries through the translational "valley of death" into full scale industry-led development of new, approved therapeutics to treat eye disease...
October 18, 2018: Pharmaceutical Research
Johannes Menzel-Severing, Ralph Meiller, Cornelia Kraus, Regina Trollmann, Deniz Atalay
We report the case of a 3-year-old boy presenting with bilateral keratoglobus and blue sclera in addition to hallux valgus, arachnodactyly, small joint hypermobility, mitral valve dysfunction and a history of generalized muscular hypotonia in early infancy. Molecular genetics provided evidence of two pathogenic mutations in the ZNF469 gene (compound heterozygosity) leading to the diagnosis of brittle cornea syndrome type 1. In addition to neuropediatric care, spectacles were prescribed to correct refractive error and for ocular protection...
October 18, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature...
September 1, 2018: Biomédica: Revista del Instituto Nacional de Salud
Aarti Sawant-Basak, R Scott Obach
This commentary summarizes expert mini-reviews and original research articles that have been assembled in a special issue on novel models of drug metabolism and disposition. The special issue consists of research articles or reviews on novel static or micro-flow based models of the intestine, liver, eye, and kidney. This issue reviews static intestinal systems like mucosal scrapings and cryopreserved intestinal enterocytes, as well as novel bioengineered or chemically engineered intestinal models derived from primary human tissue, iPSCs, enteroids, and crypts...
November 2018: Drug Metabolism and Disposition: the Biological Fate of Chemicals
Daisuke Todokoro, Hiroshi Eguchi, Takashi Suzuki, Motoo Suzuki, Haruyuki Nakayama-Imaohji, Tomomi Kuwahara, Takahiro Nomura, Haruyoshi Tomita, Hideo Akiyama
PURPOSE: Enterococcus faecalis causes severe acute endophthalmitis and often leads to poor visual outcomes. Conjunctival bacterial cultures occasionally grow atypical bacteria including E. faecalis, which can potentially contribute to the development of postoperative endophthalmitis. However, the characteristics of these ocular E. faecalis strains are unknown. This study is the first attempt to determine the population characteristics of E. faecalis clinical isolates from eye infections and ocular commensals...
October 15, 2018: Japanese Journal of Ophthalmology
Pukhraj Rishi, Subramanian Krishnakumar, Jyotirmay Biswas, Sridevi Nair
Purpose: To report bilateral retinoblastoma in an 11-year-old child presenting with floaters and sub-internal limiting membrane (sub-ILM) seeds. Method: An 11-year-old child presented with floaters of 4 months' duration. Examination revealed circumscribed, whitish, subhyaloid, floccular nodules in the juxtapapillary region of both eyes. No solid tumor was seen. Swept-source optical coherence tomography revealed moderately reflective echoes in the sub-ILM space. Vitreous aspiration of sub-ILM deposits and cytopathological examination revealed retinoblastoma...
September 2018: Ocular Oncology and Pathology
Armin R Afshar, Michael Deiner, Grant Allen, Bertil E Damato
Background: Ocular melanomas threaten patients with early death, visual handicap, and loss of the eye. The aims of this study were to identify aspects of care that patients with ocular melanoma considered most important and to determine whether patients felt their needs had been adequately addressed. Methods: A cross-sectional study including US ocular melanoma patients and their caregivers. An online survey of US ocular melanoma patients was designed and conducted by the Ocular Melanoma Foundation...
September 2018: Ocular Oncology and Pathology
Li Guo, Eduardo M Normando, Parth Arvind Shah, Lies De Groef, M Francesca Cordeiro
Parkinson's disease (PD) is one of the most common neurodegenerative disorders and the second leading cause of dementia worldwide. With an aging population, the prevalence of the disease has dramatically increased. Clinical management has advanced through recent developments in dopaminergic imaging and genetic risk profiling. However, early and accurate diagnosis of the disorder remains a challenge, largely because of the lack of noninvasive and inexpensive reliable diagnostic tests. Besides the well-studied cerebral neurodegeneration that underlies the cardinal symptoms of PD (ie, bradykinesia, tremor, rigidity, and postural instability), ocular changes have also been described in PD, including visual dysfunction, pupil abnormality, lens opacity, and retinal neuronal loss and dysfunction...
September 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Saumya M Shah, Lisa A Schimmenti, Alan D Marmorstein, Sophie J Bakri
PURPOSE: To report a case of adult-onset vitelliform macular dystrophy in a patient who was found to have a previously unreported variant of the IMPG2 gene. METHODS: Case report. RESULTS: A 65-year-old white woman with no significant medical or ocular history presented with a complaint of persistent wavy vision for 10 months. On funduscopic examination, bilateral vitelliform lesions of approximately 1 mm in the right eye and 0.5 mm in the left eye were evident, with no choroidal neovascularization in either eye...
October 8, 2018: Retinal Cases & Brief Reports
Yasuyo Kashiwagi, Shinji Suzuki, Kazushi Agata, Yasuyuki Morishima, Natsuko Inagaki, Hironao Numabe, Hisashi Kawashima
We herein report 2 Japanese patients with X-linked Alport syndrome (XLAS), with a novel variant in COL4A5. Patient 1 was a 16-year-old Japanese girl with a history of microscopic hematuria, without proteinuria, renal dysfunction, deafness, or ocular abnormalities. At 13 years of age, renal biopsy was performed; however, a diagnosis of AS was not considered. When her mother (patient 2) was 40 years of age (3 years after patient 1 underwent a renal biopsy), patient 2 was found to have asymptomatic hematuria, proteinuria, and an increased serum creatinine level, without deafness and ocular abnormalities...
October 6, 2018: CEN Case Reports
Katarzyna Oszajca, Maciej Szemraj, Janusz Szemraj, Piotr Jurowski
BACKGROUND: Age-related macular degeneration is a progressive eye disease affecting the macula and causing acute visual loss particularly in elder people. The aim of the study was an attempt to discern an influence of expression levels and functional genetic polymorphisms of selected genes related to the extracellular matrix turnover or neovascularization on age-related macular degeneration occurrence and progression. METHODS: We conducted a case-control study of 200 polish patients with recognized age-related macular degeneration (dry and wet) and compared the results with those obtained from matched 100 healthy control subjects...
October 5, 2018: Ophthalmic Genetics
Elham Shahriyari, Mortaza Bonyadi, Mohammad Hossein Jabbarpoor Bonyadi, Masoud Soheilian, Mehdi Yaseri, Nazanin Ebrahimi Adib
PURPOSE: To evaluate the possible association of UBASH3B gene rs4936742 (T > C) polymorphism with Behcet's disease (BD) and posterior uveitis in BD. MATERIALS AND METHODS: One hundred and thirty-one patients with BD (51 Behcet's posterior uveitis and 80 non-ocular Behcet's patients) and 61 unrelated age-matched healthy individuals as a control group without any inflammatory disease were selected. All BD cases were under follow-up and treatment in uveitis or rheumatology clinics for at least 5 years...
October 5, 2018: Current Eye Research
Zorica Jović, Slobodan M Janković, Dejana Ružić Zečević, Dragan Milovanović, Srđan Stefanović, Marko Folić, Jasmina Milovanović, Marina Kostić
Second-generation triazoles were developed in response to the quest for more efficacious and safer therapeutic options for the treatment of severe systemic aspergillosis and candidiasis. These agents include voriconazole, posaconazole, isavuconazole, and ravuconazole. The aim of this review was to present and compare the pharmacokinetic characteristics of second-generation triazoles for the treatment of invasive aspergillosis and candidiasis, emphasizing their clinical implications. The MEDLINE, Scopus, EBSCO, Google Scholar, and SCIndeks databases were searched using advanced search options, including the names of second-generation triazoles and pharmacokinetic terms as keywords...
October 3, 2018: European Journal of Drug Metabolism and Pharmacokinetics
Hiroki Katsuta, Kazuya Tsuboi, Hiroshi Yamamoto, Hiromi Goto
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder and shows globotriosylceramide (Gb3) accumulation in multiple organs, resulting from a deficiency of α-galactosidase. In patients with Fabry disease, cardiovascular disease occurs at an early age. Previous studies have shown that serum levels of high-density lipoprotein-cholesterol (HDL-C) increase in this disease, yet its clinical significance for cardiovascular disease remains unclear. Methods and Results: In order to determine why the serum HDL-cholesterol is high in various cardiovascular diseases of Fabry disease patients, we evaluated the serum lipid profiles, ocular vascular lesions, and levels of serum vascular endothelial growth factor (VEGF) and intercellular adhesion molecule-1 in 69 patients with Fabry disease diagnosed by genetic examination...
October 3, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
D Rowlands, K K Lensjø, T Dinh, S Yang, M R Andrews, T Hafting, M Fyhn, J W Fawcett, G Dick
In the adult brain, the extracellular matrix (ECM) influences recovery after injury, susceptibility to mental disorders, and is in general a strong regulator of neuronal plasticity. The proteoglycan aggrecan is a core component of the condensed ECM structures termed perineuronal nets (PNNs), and the specific role of PNNs on neural plasticity remains elusive. Here, we genetically targeted the Acan gene encoding for aggrecan utilizing a novel animal model. This allowed for conditional and targeted loss of aggrecan in vivo , which ablated the PNN structure and caused a shift in the population of parvalbumin expressing inhibitory interneurons towards a high plasticity state...
October 3, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Antonio Eleuteri, Azzam F G Taktak, Sarah E Coupland, Heinrich Heimann, Helen Kalirai, Bertil Damato
BACKGROUND/AIMS: Uveal melanoma is fatal in almost 50% of patients. We previously developed a prognostic model to predict all-cause mortality. The aim of this study was to improve our model by predicting metastatic death as a cause-specific event distinct from other causes of death. METHODS: Patients treated in Liverpool were included if they resided in England, Scotland or Wales and if their uveal melanoma involved the choroid. They were flagged at the National Health Service Cancer Registry, which automatically informed us of the date and cause of death of any deceased patients...
September 25, 2018: Computers in Biology and Medicine
Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati, Laura D'Amico, Sabrina Signorini, Umberto Balottin, Stefano Bastianello
BACKGROUND: Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized. CASE PRESENTATION: In this report, we describe a case of large microdeletion encompassing OTX2 but not BMP4 presenting with a syndromic anophthalmia with corpus callosum hypoplasia, pituitary gland hypoplasia and vermian hypoplasia...
September 29, 2018: BMC Medical Genomics
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