Elaborate Evaluation of Farnsworth Dichotomous D-15 Panel Test Can Help Differentiate between Best Vitelliform Macular Dystrophy and Autosomal Recessive Bestrophinopathy

Research Article

Open Access Gateway Nowomiejska K.a,b· Nasser F.b· Brzozowska A.c· Rejdak R.a· Zrenner E.b,d

Author affiliations

aChair and Department of General and Pediatric Ophthalmology, Medical University of Lublin, Lublin, Poland
bCenter for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University, Tuebingen, Germany
cDepartment of Informatics and Medical Biostatistics, Medical University of Lublin, Lublin, Poland
dWerner Reichardt Centre for Integrative Neuroscience, Eberhard Karls University, Tuebingen, Germany

Corresponding Author

Katarzyna Nowomiejska, katarzyna.nowomiejska@umlub.pl

References Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best’s disease). Hum Mol Genet. 1998;7(9):1517–25. Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, et al. Identification of the gene responsible for best macular dystrophy. Nat Genet. 1998;19(3):241–7. Qu Z, Hartzell HC. Bestrophin Cl- channels are highly permeable to HCO3−. Am J Physiol Cell Physiol. 2008;294(6):C1371–7. Xiao Q, Hartzell HC, Yu K. Bestrophins and retinopathies. Pflugers Arch. 2010;460(2):559–69. Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci. 2007;48(7):3372–80. Patrinely JR, Lewis RA, Font RL. Foveomacular vitelliform dystrophy, adult type. A clinicopathologic study including electron microscopic observations. Ophthalmology. 1985;92(12):1712–8. Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, et al. Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina. 2004;24(6):929–39. Johnson AA, Guziewicz KE, Lee CJ, Kalathur RC, Pulido JS, Marmorstein LY, et al. Bestrophin 1 and retinal disease. Prog Retin Eye Res. 2017;58:45–69. Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet. 2008;82(1):19–31. Boon CJF, Klevering BJ, Leroy BP, Hoyng CB, Keunen JEE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009;28(3):187–205. Boon CJF, van den Born LI, Visser L, Keunen JEE, Bergen AAB, Booij JC, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology. 2013;120(4):809–20. Ryan SJJr. Diagnostic tests employed in macular lesions. Surv Ophthalmol. 1972;17(2):94–100. Birch J. Diagnosis of defective colour vision. 2nd ed.Oxford: Butterworth-Heinemann; 2001. Farnsworth D. The Farnsworth-Munsell 100-Hue Test for the examination of colour discrimination. Manual. 2nd ed.New York: Munsell Colour; 1957. Melamud A, Hagstrom S, Traboulsi E. Color vision testing. Ophthalmic Genet. 2004;25(3):159–87. Farnsworth D. The Farnsworth dichotomous test for colour blindness panel D-15. New York: Psychological Corp; 1947. Lanthony P. The desaturated panel D-15. Doc Ophthalmol. 1978;1646(1):185–9. Vingrys AJ, King-Smith PE. A quantitative scoring technique for panel tests of color vision. Invest Ophthalmol Vis Sci. 1988;29(1):50–63. Bowman KJ. A method for quantitative scoring of the Farnsworth Panel D-15. Acta Ophthalmol. 1982;60(6):907–16. Gass JDM. Best’s disease. in: Stereoscopic atlas of macular disease. Diagnosis and treatment. St.Louis-LondonPhiladelphia-Sydney-Toronto: Mosby; 1997. p. 304–13. Constable PA, Bach M, Frishman LJ, Jeffrey BG, Robson AG; International Society for Clinical Electrophysiology of Vision. ISCEV Standard for clinical electro-oculography (2017 update). Doc Ophthalmol. 2017;134:1–9. Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, et al. Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies. Acta Ophthalmol. 2022;100(3):e847–58. Hering E. Outlines of a theory of the light sense. Translated by: Hurvich LM, Jameson D. Cambridge, MA: Harvard University Press; 1964. Kolb H, Lipetz LE. The anatomical basis for colour vision in the vertebrate retina. In: Vision and visual dysfunction. London: Macmillan Press Ltd; 1991. p. 128–45. Neelam K, Nolan J, Chakravarthy U, Beatty S. Psychophysical function in age-related maculopathy. Surv Ophthalmol. 2009;54(2):167–210. O’Neill-Biba M, Sivaprasad S, Rodriguez-Carmona M, Wolf JE, Barbur JL. Loss of chromatic sensitivity in AMD and diabetes: a comparative study. Ophthalmic Physiol Opt. 2010;30(5):705–16. Verriest G, Caluwaerts MR. An evaluation of three new colour vision tests. Mod Probl Ophthalmol. 1978;19:131–5. Pfister TA, Zein WM, Cukras CA, Sen HN, Maldonado RS, Huryn LA, et al. Phenotypic and genetic spectrum of autosomal recessive bestrophinopathy and best vitelliform macular dystrophy. Invest Ophthalmol Vis Sci. 2021;62(6):22. Thiadens AAHJ, Hoyng CB, Polling JR, Bernaerts-Biskop R, van den Born LI, Klaver CCW. Accuracy of four commonly used color vision tests in the identification of cone disorders. Ophthalmic Epidemiol. 2013;20(2):114–21. Vandenbroucke T, Buyl R, De Zaeytijd J, Bauwens M, Uvijls A, De Baere E, et al. Colour vision in Stargardt disease. Ophthalmic Res. 2015;54(4):181–94. Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, et al. Usher syndrome and color vision. Curr Eye Res. 2018;43(10):1295–301. Barry collin H. Recognition of acquired colour defects using the panel D-15. Aust J Optom. 1966;49(12):342–7. Barkman Y. A clinical study of a central tapetoretinal degeneration. Acta Ophthalmol. 1961;39:663–71. Armstrong RA. Statistical guidelines for the analysis of data obtained from one or both eyes. Ophthalmic Physiol Opt. 2013;33(1):7–14. Ruddock KH. Psychophysics of inherited colour vision deficiencies. In: Gouras P, editor. The perception of colour vision. Vision and visual dysfunctions. Boca Raton: CRC Press; 1991. Vol. 7; p. 4. Article / Publication Details Open Access License / Drug Dosage / Disclaimer This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC). Usage and distribution for commercial purposes requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

留言 (0)

沒有登入
gif