Appropriate Terminology in the Nomenclature of the Color Vision
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Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials
RESEARCH ARTICLE Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials Xunda Luo1☯‡, Artur V. Cideciyan1☯‡*, Alessandro Iannaccone2, Alejandro J. Roman1, Lauren C. Ditta2, Barbara J. Jennings2, Svetlana A. Yatsenko3, Rebecca Sheplock1, Alexander Sumaroka1, Malgorzata Swider1, Sharon B. Schwartz1, Bernd Wissinger4, Susanne Kohl4, Samuel G. Jacobson1* 1 Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, 2 Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee, United States of America, 3 Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America, 4 Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany ☯ These authors contributed equally to this work. ‡ OPEN ACCESS These authors are joint first authors on this work. * [email protected] (SGJ); [email protected] (AVC) Citation: Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, et al. (2015) Blue Cone Monochromacy: Visual Function and Efficacy Abstract Outcome Measures for Clinical Trials. PLoS ONE 10(4): e0125700. doi:10.1371/journal.pone.0125700 Academic Editor: Dror Sharon, Hadassah-Hebrew University Medical Center, ISRAEL Background Blue Cone Monochromacy (BCM) is an X-linked retinopathy caused by mutations in the Received: December 29, 2014 OPN1LW / OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength sensitive Accepted: March 21, 2015 cone opsins. Recent evidence shows sufficient structural integrity of cone photoreceptors in Published: April 24, 2015 BCM to warrant consideration of a gene therapy approach to the disease. -
Theoretical Part Eye Examinations 1
Name and Surrname number Study group Theoretical part Eye examinations 1. Astigmatism Astigmatism is an optical defect in which vision is blurred due to the inability of the optics of the eye to focus a point object into a sharp focused image on the retina. Astigmatism can sometimes be asymptomatic, while higher degrees of astigmatism may cause symptoms such as blurry vision, squinting, eye strain, fatigue, or headaches. Types Regular astigmatism: Principal meridians are perpendicular. Simple astigmatism – the first focal line is on the retina, while the second is located behind the retina, or, the first focal line is in front of the retina, while the second is on the retina. Compound astigmatism – both focal lines are located behind or before the retina. Mixed astigmatism – focal lines are on both sides of the retina (straddling the retina). Irregular astigmatism: Principal meridians are not perpendicular. This type cannot be corrected by a lens. Tests Objective Refractometer, autorefractometer Placido keratoscope – A placido keratoscope consists of a handle and a circular part with a hole in the middle. The hole with a magnifying glass is viewed from a distance of 10–15 cm to the patients cornea. In the 200 mm wide circular portion there are concentric alternating black and white circles. They reflect the patient’s cornea. In the event of astigmatism, a deformation appears at the corresponding location. Sciascope Ophthalmometry Subjective Fuchs figure – This is a tool for evaluating astigmatism where examinee stands up against a pattern of circular shape (circular or striped rectangles) and fixes his/her gaze on the center of the pattern with one open eye. -
Comprehensive Pediatric Eye and Vision Examination
American Optometric Association – Peer/Public Review Document 1 2 3 EVIDENCE-BASED CLINICAL PRACTICE GUIDELINE 4 5 6 7 8 9 10 11 12 13 14 15 16 17 Comprehensive 18 Pediatric Eye 19 and Vision 20 Examination 21 22 For Peer/Public Review May 16, 2016 23 American Optometric Association – Peer/Public Review Document 24 OPTOMETRY: THE PRIMARY EYE CARE PROFESSION 25 26 The American Optometric Association represents the thousands of doctors of optometry 27 throughout the United States who in a majority of communities are the only eye doctors. 28 Doctors of optometry provide primary eye care to tens of millions of Americans annually. 29 30 Doctors of optometry (O.D.s/optometrists) are the independent primary health care professionals for 31 the eye. Optometrists examine, diagnose, treat, and manage diseases, injuries, and disorders of the 32 visual system, the eye, and associated structures, as well as identify related systemic conditions 33 affecting the eye. Doctors of optometry prescribe medications, low vision rehabilitation, vision 34 therapy, spectacle lenses, contact lenses, and perform certain surgical procedures. 35 36 The mission of the profession of optometry is to fulfill the vision and eye care needs of the 37 public through clinical care, research, and education, all of which enhance quality of life. 38 39 40 Disclosure Statement 41 42 This Clinical Practice Guideline was funded by the American Optometric Association (AOA), 43 without financial support from any commercial sources. The Evidence-Based Optometry 44 Guideline Development Group and other guideline participants provided full written disclosure 45 of conflicts of interest prior to each meeting and prior to voting on the strength of evidence or 46 clinical recommendations contained within this guideline. -
Updates on Myopia
Updates on Myopia A Clinical Perspective Marcus Ang Tien Y. Wong Editors Updates on Myopia Marcus Ang • Tien Y. Wong Editors Updates on Myopia A Clinical Perspective Editors Marcus Ang Tien Y. Wong Singapore National Eye Center Singapore National Eye Center Duke-NUS Medical School Duke-NUS Medical School National University of Singapore National University of Singapore Singapore Singapore This book is an open access publication. ISBN 978-981-13-8490-5 ISBN 978-981-13-8491-2 (eBook) https://doi.org/10.1007/978-981-13-8491-2 © The Editor(s) (if applicable) and The Author(s) 2020, corrected publication 2020 Open Access This book is licensed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made. The images or other third party material in this book are included in the book's Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the book's Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specifc statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. -
Acquired Colour Vision Defects in Glaucoma—Their Detection and Clinical Significance
1396 Br J Ophthalmol 1999;83:1396–1402 Br J Ophthalmol: first published as 10.1136/bjo.83.12.1396 on 1 December 1999. Downloaded from PERSPECTIVE Acquired colour vision defects in glaucoma—their detection and clinical significance Mireia Pacheco-Cutillas, Arash Sahraie, David F Edgar Colour vision defects associated with ocular disease have The aims of this paper are: been reported since the 17th century. Köllner1 in 1912 + to provide a review of the modern literature on acquired wrote an acute description of the progressive nature of col- colour vision in POAG our vision loss secondary to ocular disease, dividing defects + to diVerentiate the characteristics of congenital and into “blue-yellow” and “progressive red-green blindness”.2 acquired defects, in order to understand the type of This classification has become known as Köllner’s rule, colour vision defect associated with glaucomatous although it is often imprecisely stated as “patients with damage retinal disease develop blue-yellow discrimination loss, + to compare classic clinical and modern methodologies whereas optic nerve disease causes red-green discrimina- (including modern computerised techniques) for tion loss”. Exceptions to Köllner’s rule34 include some assessing visual function mediated through chromatic optic nerve diseases, notably glaucoma, which are prima- mechanisms rily associated with blue-yellow defects, and also some reti- + to assess the eVects of acquired colour vision defects on nal disorders such as central cone degeneration which may quality of life in patients with POAG. result in red-green defects. Indeed, in some cases, there might be a non-specific chromatic loss. Comparing congenital and acquired colour vision Colour vision defects in glaucoma have been described defects since 18835 and although many early investigations Congenital colour vision deficiencies result from inherited indicated that red-green defects accompanied glaucoma- cone photopigment abnormalities. -
Colour Vision Deficiency
Eye (2010) 24, 747–755 & 2010 Macmillan Publishers Limited All rights reserved 0950-222X/10 $32.00 www.nature.com/eye Colour vision MP Simunovic REVIEW deficiency Abstract effective "treatment" of colour vision deficiency: whilst it has been suggested that tinted lenses Colour vision deficiency is one of the could offer a means of enabling those with commonest disorders of vision and can be colour vision deficiency to make spectral divided into congenital and acquired forms. discriminations that would normally elude Congenital colour vision deficiency affects as them, clinical trials of such lenses have been many as 8% of males and 0.5% of femalesFthe largely disappointing. Recent developments in difference in prevalence reflects the fact that molecular genetics have enabled us to not only the commonest forms of congenital colour understand more completely the genetic basis of vision deficiency are inherited in an X-linked colour vision deficiency, they have opened the recessive manner. Until relatively recently, our possibility of gene therapy. The application of understanding of the pathophysiological basis gene therapy to animal models of colour vision of colour vision deficiency largely rested on deficiency has shown dramatic results; behavioural data; however, modern molecular furthermore, it has provided interesting insights genetic techniques have helped to elucidate its into the plasticity of the visual system with mechanisms. respect to extracting information about the The current management of congenital spectral composition of the visual scene. colour vision deficiency lies chiefly in appropriate counselling (including career counselling). Although visual aids may Materials and methods be of benefit to those with colour vision deficiency when performing certain tasks, the This article was prepared by performing a evidence suggests that they do not enable primary search of Pubmed for articles on wearers to obtain normal colour ‘colo(u)r vision deficiency’ and ‘colo(u)r discrimination. -
Congenital Or Acquired Color Vision Defect – If Acquired What Caused It?
Congenital or Acquired Color Vision Defect – If Acquired What Caused it? Terrace L. Waggoner O.D. 3730 Tiger Point Blvd. Gulf Breeze, FL 32563 [email protected] Course Handout AOA 2017 Conference: I. Different types of congenital colorblindness. A. Approximately 8% of the population has a congenital color vision deficiency. B. Dichromate 1. Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors (L cone absent). 2. Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent (M cone absent). 3. Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors (S cone absent). It is related to chromosome 7. C. Anomalous Trichromate 1. Protanomaly is a mild color vision defect in which an altered spectral sensitivity of red retinal receptors (closer to green receptor response) results in poor red–green hue discrimination. 2. Deuteranomaly, caused by a similar shift in the green retinal receptors, is by far the most common type of color vision deficiency, mildly affecting red–green hue discrimination in 5% males. 3. Tritanomaly is a rare, hereditary color vision deficiency affecting blue–green and yellow–red/pink hue discrimination. D. Rates of color blindness 1. Dichromacy Males 2.4% Females .03% a. Protanopia (red deficient: L cone absent) Males 1.3% Females 0.02% b. Deuteranopia (green deficient: M cone absent) Males 1.2% Females 0.01 c. Tritanopia (blue deficient: S cone absent) Males 0.001% Females 0.03% 2. -
PEDIATRIC EYE and VISION EXAMINATION Reference Guide for Clinicians
OPTOMETRIC CLINICAL PRACTICE GUIDELINE OPTOMETRY: THE PRIMARY EYE CARE PROFESSION Doctors of optometry are independent primary health care providers who examine, diagnose, treat, and manage diseases and disorders of the visual system, the eye, and associated structures as well as diagnose related systemic conditions. Optometrists provide more than two-thirds of the primary eye care services in the United States. They are more widely distributed geographically than other eye care providers and are readily accessible for the delivery of eye and vision care services. There are approximately 32,000 full-time equivalent doctors of optometry currently in practice in Pediatric Eye the United States. Optometrists practice in more than 7,000 communities across the United States, serving as the sole primary eye care provider in more than 4,300 communities. And Vision The mission of the profession of optometry is to fulfill the vision and eye care needs of the public through clinical care, research, and education, all Examination of which enhance the quality of life. OPTOMETRIC CLINICAL PRACTICE GUIDELINE PEDIATRIC EYE AND VISION EXAMINATION Reference Guide for Clinicians First Edition Originally Prepared by (and Second Edition Reviewed by) the American Optometric Association Consensus Panel on Pediatric Eye and Vision Examination: Mitchell M. Scheiman, O.D., M.S., Principal Author Catherine S. Amos, O.D. Elise B. Ciner, O.D. Wendy Marsh-Tootle, O.D. Bruce D. Moore, O.D. Michael W. Rouse, O.D., M.S. Reviewed by the AOA Clinical Guidelines Coordinating Committee: John C. Townsend, O.D., Chair (2nd Edition) John F. Amos, O.D., M.S. -
Clinical and Genetic Investigation of a Large Tunisian Family with Complete Achromatopsia: Identification of a New Nonsense Mutation in GNAT2 Gene
Journal of Human Genetics (2011) 56, 22–28 & 2011 The Japan Society of Human Genetics All rights reserved 1434-5161/11 $32.00 www.nature.com/jhg ORIGINAL ARTICLE Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene Farah Ouechtati1,2,7, Ahlem Merdassi2,7, Yosra Bouyacoub1,2, Leila Largueche2, Kaouther Derouiche2, Houyem Ouragini1, Sonia Nouira1, Leila Tiab3,4, Karim Baklouti2, Ahmed Rebai5, Daniel F Schorderet3,4,6, Francis L Munier3,4,6, Leonidas Zografos4,6, Sonia Abdelhak1 and Leila El Matri2 Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a large consanguineous Tunisian family. Ophthalmic evaluation included a full clinical examination, color vision testing and electroretinography. Linkage analysis using microsatellite markers flanking CNGA3, CNGB3, GNAT2 and PDE6C genes was performed. Mutations were screened by direct sequencing. A total of 12 individuals were diagnosed with congenital complete achromatopsia. They are members of six nuclear consanguineous families belonging to the same large consanguineous family. Linkage analysis revealed linkage to GNAT2. Mutational screening of GNAT2 revealed three intronic variations c.119À69G4C, c.161+66A4T and c.875À31G4C that co-segregated with a novel mutation p.R313X. An identical GNAT2 haplotype segregating with this mutation was identified, indicating a founder mutation. All patients were homozygous for the p.R313X mutation. -
Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders
G C A T T A C G G C A T genes Review Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders Maureen Neitz * and Jay Neitz Department of Ophthalmology and Vision Science Center, University of Washington, Seattle, WA 98109, USA; [email protected] * Correspondence: [email protected]; Tel.: +1-206-543-7998 Abstract: Light absorption by photopigment molecules expressed in the photoreceptors in the retina is the first step in seeing. Two types of photoreceptors in the human retina are responsible for image formation: rods, and cones. Except at very low light levels when rods are active, all vision is based on cones. Cones mediate high acuity vision and color vision. Furthermore, they are critically important in the visual feedback mechanism that regulates refractive development of the eye during childhood. The human retina contains a mosaic of three cone types, short-wavelength (S), long-wavelength (L), and middle-wavelength (M) sensitive; however, the vast majority (~94%) are L and M cones. The OPN1LW and OPN1MW genes, located on the X-chromosome at Xq28, encode the protein component of the light-sensitive photopigments expressed in the L and M cones. Diverse haplotypes of exon 3 of the OPN1LW and OPN1MW genes arose thru unequal recombination mechanisms that have intermixed the genes. A subset of the haplotypes causes exon 3- skipping during pre-messenger RNA splicing and are associated with vision disorders. Here, we review the mechanism by which splicing defects in these genes cause vision disorders. Citation: Neitz, M.; Neitz, J. -
A Novel Technique for Modification of Images for Deuteranopic Viewers
ISSN (Online) 2278-1021 IJARCCE ISSN (Print) 2319 5940 International Journal of Advanced Research in Computer and Communication Engineering Vol. 5, Issue 4, April 2016 A Novel Technique for Modification of Images for Deuteranopic Viewers Jyoti D. Badlani1, Prof. C.N. Deshmukh 2 PG Student [Dig Electronics], Dept. of Electronics & Comm. Engineering, PRMIT&R, Badnera, Amravati, Maharashtra, India1 Professor, Dept. of Electronics & Comm. Engineering, PRMIT&R, Badnera, Amravati, Maharashtra, India2 Abstract: About 8% of men and 0.5% women in world are affected by the Colour Vision Deficiency. As per the statistics, there are nearly 200 million colour blind people in the world. Color vision deficient people are liable to missing some information that is taken by color. People with complete color blindness can only view things in white, gray and black. Insufficiency of color acuity creates many problems for the color blind people, from daily actions to education. Color vision deficiency, is a condition in which the affected individual cannot differentiate between colors as well as individuals without CVD. Colour vision deficiency, predominantly caused by hereditary reasons, while, in some rare cases, is believed to be acquired by neurological injuries. A colour vision deficient will miss out certain critical information present in the image or video. But with the aid of Image processing, many methods have been developed that can modify the image and thus making it suitable for viewing by the person suffering from CVD. Color adaptation tools modify the colors used in an image to improve the discrimination of colors for individuals with CVD. This paper enlightens some previous research studies in this field and follows the advancement that has occurred over the time. -
Comparison RM Versus BCM 2
Rod Monochromacy Blue Cone Monochromacy Severe aversion to light. Hemeralopia More variable- some have Day Blindness severe aversion while some show much less aversion to light. Complete loss of color vision is Color Vision All have incomplete loss of color the expected with only rod vision. They have both rod receptors functioning. receptors and blue cone receptors functioning. Some RM patients reports they see some colors. This could the Typically they have some color the result of judgements based detection along the yellow- blue on brightness not color. axis. Possibly some minimal cone The Berson Color Vision Test function might still be working in may help differentiate RM some patients. patients from BCM. The Berson Color Vision Test may help differentiate RM patients from BCM. Nystagmus may be first sign of Nystagmus Nystagmus may be first sign of problems often starting about problem often starting about three to six months after birth. three to six months after birth. It usually lessens or disappears It usually lessens or disappears by adulthood which may improve by adulthood which may improve vision. vision. Typical cases show 20/120 to Visual acuity Typical cases 20/60 to 20/200 20/200. This is a variable range This is a variable range of visual of visual acuities and may be acuities and may be worse in worse in young children. young children. A significant portion of Blue Cone Monochromats have better visual acuity than RMs. However, some BCMs are just as impaired as RMs. First signs common about three Onset of Condition First signs common about three months after birth.