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https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#1
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28543741/detection-of-progression-of-glaucomatous-retinal-nerve-fibre-layer-defects-using-optical-coherence-tomography-guided-progression-analysis
#2
Young Hoon Hwang, Min Kyung Kim, Jae Min Wi, Jae Keun Chung, Kwan Bok Lee
PURPOSE: The aim was to investigate the agreement for detection of progression of glaucomatous retinal nerve fibre layer defects (RNFLD) between optical coherence tomography-guided progression analysis (OCT GPA) and conventional red-free fundus photography. METHODS: Four hundred and fifteen glaucomatous eyes that underwent at least four serial red-free photographic and OCT examinations were included in the study. Based on the inspection of the red-free fundus photographs and GPA maps, RNFLD progression was defined as the development of a new defect, widening or deepening of a pre-existing RNFLD in red-free fundus photography (photographic progression) or 'Likely Loss' on a GPA map (GPA progression)...
May 24, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28542088/corneal-breakthrough-haze-after-photorefractive-keratectomy-with-mitomycin-c-incidence-and-risk-factors
#3
Igor Kaiserman, Naʼava Sadi, Michael Mimouni, Tzahi Sela, Gur Munzer, Shmuel Levartovsky
PURPOSE: To identify preoperative and intraoperative factors affecting breakthrough corneal haze incidence after photorefractive keratectomy (PRK) with mitomycin C (MMC). METHODS: In this retrospective study of PRK performed at the Care Vision Refractive Laser Center, Tel Aviv, Israel, a total of 7535 eyes (n = 3854 patients; mean age ± SD, 26 ± 6 years; 55% men) underwent PRK with intraoperative MMC application. Patients with histories of corneal pathology or surgery were excluded...
May 23, 2017: Cornea
https://www.readbyqxmd.com/read/28539273/ion-paired-pirenzepine-loaded-micelles-as-an-ophthalmic-delivery-system-for-the-treatment-of-myopia
#4
Yanan Li, Yong Zhang, Pengmei Li, Gujie Mi, Jiasheng Tu, Linlin Sun, Thomas J Webster, Yan Shen
Myopia is one of the most common ocular disorders for which standard treatments, such as refractive surgery, often involve invasive procedures. Pirenzepine (PRZ), a muscarinic receptor antagonist, has been recognized as a promising candidate for the treatment of myopia, but possesses poor ocular bioavailability. The overall objective of this study was to prepare PRZ-sorbic acid complexes suitable to be encapsulated into micelles with high efficiency for optimal ophthalmic delivery. The results demonstrated that sorbic acid, used as the counter ion, had the most significant effects in increasing octanol-water distribution coefficient of PRZ as well as improving its corneal permeability in vitro among various counter ions tested...
May 21, 2017: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/28539146/keratoconus-in-civil-aviation-pilots-in-a-report-of-six-cases
#5
Albert Rebello, Bênesson Rodrigues, Marcos Pereira
BACKGROUND: Keratoconus is a progressive noninflammatory ectatic corneal dystrophy, characterized by corneal thinning and increased curvature with central or paracentral tapered protrusion. Such changes in corneal morphology induce irregular astigmatism and myopia, resulting in visual acuity impairment. This report assesses cases in which keratoconus is not an absolute disabling condition for civil aviation pilots. METHODS: Six cases of keratoconus in active pilots are presented...
June 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28538978/the-characteristics-of-deep-optic-nerve-head-morphology-in-myopic-normal-tension-glaucoma
#6
Jong Chul Han, Eun Jung Lee, Si Bum Kim, Changwon Kee
Purpose: To investigate the relationship between axial length (AL) and deep optic nerve head (ONH) structure and to evaluate the characteristics of deep ONH structures in myopic normal tension glaucoma (NTG). Methods: The following parameters were assessed using spectral-domain optical coherence tomography (SD-OCT): externally oblique border tissue (EOBT) length, ONH tilt angle, optic canal (OC) obliqueness, and β-zone peripapillary atrophy (PPA). In addition, the angular location of the maximal value of each parameter and retinal nerve fiber layer (RNFL) defect were measured using infrared and red-free photos...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28538264/lamellar-hole-associated-epiretinal-proliferation-in-lamellar-macular-hole-and-full-thickness-macular-hole-in-high-myopia
#7
Tso-Ting Lai, Chung-May Yang
PURPOSE: To report findings and surgical outcomes of lamellar macular hole (LMH) or full-thickness macular hole (FTMH) accompanied by lamellar hole-associated epiretinal proliferation (LHEP) in eyes with high myopia (HM). METHODS: Consecutive cases of HM with LMH or FTMH containing LHEP were retrospectively reviewed (study group, 43 cases). Cases of HM without LHEP (22) and those of non-HM with LHEP (30) served as Control A and B. RESULTS: The study group showed larger (928...
May 18, 2017: Retina
https://www.readbyqxmd.com/read/28537642/orthokeratology-treatment-in-pediatric-myopia
#8
EDITORIAL
Leonard B Nelson
No abstract text is available yet for this article.
May 1, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28535912/effect-of-induced-high-myopia-on-functional-mri-signal-changes
#9
Ali Mirzajani, Mohammad Ghorbani, Behrouz Rasuli, Ali Mahmoud-Pashazadeh
PURPOSE: The current study evaluated the effect of lens-induced high myopia (IHM) on the activity of the occipital visual cortex during two visual stimuli presentations to the subjects. This was done by measuring the Blood Oxygenation Level Dependent (BOLD) signal using functional MRI (fMRI). METHODS: BOLD contrast fMRI was performed with a 1.5T MRI scanner on 12 emmetropic subjects (refractive error <±0.25Diopter) with no history of neurologic disorder. IHM conditions were applied to subjects by three convex lenses of +5D, +7D and +10D...
May 2017: Physica Medica: PM
https://www.readbyqxmd.com/read/28534320/infectious-keratitis-and-orthokeratology-lens-use-a-systematic-review
#10
REVIEW
Ka Wai Kam, Wing Yung, Gabriel Ka Hin Li, Li Jia Chen, Alvin L Young
PURPOSE: Myopia is a prevalent condition among Asians. Orthokeratology lens has gained popularity as a method of myopia control. This systematic review is to summarize the clinical profile of infectious keratitis in association with orthokeratology lens wear. METHODS: We searched in the PubMed and EMBASE for articles adopting the search strategy "(orthokeratology lens OR orthokeratology) AND (bacterial eye infection OR keratitis OR cornea ulcer OR microbial keratitis OR bacterial keratitis)", from the start date of the databases to August 23, 2016...
May 22, 2017: Infection
https://www.readbyqxmd.com/read/28534232/spontaneous-dislocation-of-the-posterior-chamber-intraocular-lens
#11
Azusa Fujikawa, Yasser Helmy Mohamed, Hirofumi Kinoshita, Eiko Tsuiki, Takashi Kitaoka
AIM: To evaluate the possible risk factors for posterior chamber intraocular lens dislocation either in-the-bag (ITB) dislocation or out-of-the-bag (OOTB) dislocation. METHODS: All subjects who sustained late intraocular lens dislocation from January 2011 until May 2014 and presented to the Nagasaki University Hospital were included in the study. This study is a retrospective evaluation of all cases of posterior chamber intraocular lens dislocation in this defined period...
May 22, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28532936/intraoperative-aberrometry-versus-preoperative-biometry-for-intraocular-lens-power-selection-in-axial-myopia
#12
Darren C Hill, Shruti Sudhakar, Christopher S Hill, Tonya S King, Ingrid U Scott, Brett B Ernst, Seth M Pantanelli
PURPOSE: To compare the accuracy of intraoperative wavefront aberrometry (ORA) and the Hill-radial basis function (RBF) formula with other formulas based on preoperative biometry in predicting residual refractive error after cataract surgery in eyes with axial myopia. SETTING: Private practice, Harrisburg, Pennsylvania, USA. DESIGN: Retrospective consecutive case series. METHODS: Eyes with an axial length (AL) greater than 25...
April 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28532930/comparison-of-immediate-small-incision-lenticule-extraction-after-suction-loss-with-uneventful-small-incision-lenticule-extraction
#13
Jin Hyoung Park, Hyung Jin Koo
PURPOSE: To evaluate and compare the predictability and safety of immediate small-incision lenticule extraction, also known as SMILE, after suction loss during the procedure with those of uneventful small-incision lenticule extraction. SETTING: Nunemiso Eye Center, Seoul, South Korea. DESIGN: Retrospective case series. METHODS: Patients who had immediate small-incision lenticule extraction using reapplied suction (study group) or uneventful small-incision lenticule extraction (control group) for myopia or myopic astigmatism were included...
April 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28532929/visual-and-refractive-outcomes-of-small-incision-lenticule-extraction-in-mild-moderate-and-high-myopia-six-month-results
#14
Magda A Torky, Yousif A Alzafiri
PURPOSE: To evaluate the efficacy, safety, predictability, and stability of small-incision lenticule extraction in low, moderate, and high myopia. DESIGN: Prospective case series. METHODS: Eyes were divided into a low myopia group (spherical equivalent [SE] refraction -1.00 to -3.00 diopters [D]), moderate myopia group (SE refraction of -3.25 to -6.00 D), and high myopia group (SE refraction -6.25 to -10.00 D). Small-incision lenticule extraction surgery was performed, and outcomes were reported 6 months postoperatively...
April 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28532926/sequential-segmental-terminal-lenticular-side-cut-dissection-for-safe-and-effective-small-incision-lenticule-extraction-in-thin-lenticules
#15
Soosan Jacob, Amar Agarwal, Cosimo Mazzotta, Athiya Agarwal, John Michael Raj
Small-incision lenticule extraction may be associated with complications such as partial lenticular dissection, torn lenticule, lenticular adherence to cap, torn cap, and sub-cap epithelial ingrowth, some of which are more likely to occur during low-myopia corrections. We describe sequential segmental terminal lenticular side-cut dissection to facilitate minimally traumatic and smooth lenticular extraction. Anterior lamellar dissection is followed by central posterior lamellar dissection, leaving a thin peripheral rim and avoiding the lenticular side cut...
April 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28525563/omics-biomarkers-in-ophthalmology
#16
Susette Lauwen, Eiko K de Jong, Dirk J Lefeber, Anneke I den Hollander
"Omics" refers to high-throughput analyses of genes, proteins, or metabolites in a biological system, and is increasingly used for ophthalmic research. These system-based approaches can unravel disease-related processes and are valuable for biomarker discovery. Furthermore, potential therapeutic targets can be identified based on omics results, and targeted follow-up experiments can be designed to gain molecular understanding of the disease and to test new therapies. Here, we review the application of omics techniques in eye diseases, focusing on age-related macular degeneration (AMD), diabetic retinopathy (DR), retinal detachment (RD), myopia, glaucoma, Fuchs' corneal dystrophy (FCD), cataract, keratoconus, and dry eyes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28524141/-risk-of-senile-cataract-among-nuclear-industry-workers
#17
E V Bragin, T V Azizova, M V Bannikova
AIM: to assess the relative risk (RR) of senile cataract in a cohort of workers occupationally exposed to external gamma-rays over a long time period. MATERIAL AND METHODS: The RR of cataract development was studied in a cohort of nuclear workers that were first employed in 1948-1982 and followed up till the end of 2008 (n=22,377; females, 25.4%). The mean age at initial employment was 24.9 years. The mean cumulative gamma-ray dose was 0.54 Sv in males and 0.44 Sv in females...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28524133/-wavefront-aberrations-and-accommodation-in-myopes-and-hyperopes
#18
V V Neroev, E P Tarutta, S G Arutyunyan, A T Khandzhyan, N V Khodzhabekyan
AIM: to comparatively investigate accommodation, pseudoaccommodation, and higher-order aberrations in children and young adults with myopia and hyperopia. MATERIAL AND METHODS: A total of 39 myopic (the mean error of (-)5.2±1.5 diopters) and 53 hyperopic (the mean error of (+)3.1±1.15 diopters) eyes of 46 patients aged 5-20 years (11.6±0.6 years on average) were enrolled. Examination included evaluation of the objective accommodative response, relative accommodation reserves, pseudoaccommodation volume (calculated as the difference between the (+)3...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28520882/ocular-determinants-of-refractive-error-and-its-age-and-sex-related-variations-in-the-chinese-american-eye-study
#19
Grace M Richter, Mingwu Wang, Xuejuan Jiang, Shuang Wu, Dandan Wang, Mina Torres, Farzana Choudhury, Rohit Varma
Importance: Uncorrected refractive error (RE) is a leading cause of visual impairment, and variations in ocular anatomy determine RE. The unique ocular determinants of RE in Chinese American individuals have not been studied previously. Objective: To report ocular determinants of RE in a Chinese American population 50 years and older in Monterey Park, California. Design, Setting, and Participants: The Chinese American Eye Study, a population-based, cross-sectional study, was conducted from February 1, 2010, through October 31, 2013, in Monterey Park, with this particular data analysis performed from January 1 through December 31, 2016...
May 18, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28516000/role-of-a-dual-splicing-and-amino-acid-code-in-myopia-cone-dysfunction-and-cone-dystrophy-associated-with-l-m-opsin-interchange-mutations
#20
Scott H Greenwald, James A Kuchenbecker, Jessica S Rowlan, Jay Neitz, Maureen Neitz
PURPOSE: Human long (L) and middle (M) wavelength cone opsin genes are highly variable due to intermixing. Two L/M cone opsin interchange mutants, designated LIAVA and LVAVA, are associated with clinical diagnoses, including red-green color vision deficiency, blue cone monochromacy, cone degeneration, myopia, and Bornholm Eye Disease. Because the protein and splicing codes are carried by the same nucleotides, intermixing L and M genes can cause disease by affecting protein structure and splicing...
May 2017: Translational Vision Science & Technology
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