The electroretinogram in the genomics era: outer retinal disorders

被引：16
作者：
Cornish, Elisa E. [1 ,2 ,3 ]
Vaze, Anagha [1 ,2 ,3 ]
Jamieson, Robyn V. [2 ,4 ,5 ]
Grigg, John R. [1 ,2 ,3 ,6 ]
机构：
[1] Univ Sydney, Save Sight Inst, Special Clin Ophthalmol & Eye Hlth, Visual Electrophysiol Unit,Fac Med & Hlth, Sydney, NSW, Australia
[2] Univ Sydney, Eye Genet Res Unit, Childrens Hosp Westmead, Childrens Med Res Inst,Save Sight Inst, Sydney, NSW, Australia
[3] Sydney Eye Hosp, Sydney, NSW, Australia
[4] Univ Sydney, Fac Med & Hlth, Specialty Genom Med, Sydney, NSW, Australia
[5] Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia
[6] Sydney Childrens Hosp Network, Childrens Hosp Westmead, Dept Ophthalmol, Westmead, NSW, Australia
来源：
EYE | 2021年 / 35卷 / 09期
基金：
英国医学研究理事会;
关键词：
S-CONE SYNDROME; SUPERNORMAL ROD ELECTRORETINOGRAM; ISCEV STANDARD; PATTERN ELECTRORETINOGRAM; RETINITIS-PIGMENTOSA; CLINICAL-FEATURES; DYSTROPHY; MUTATIONS; BRADYOPSIA; NR2E3;
D O I：
10.1038/s41433-021-01659-y
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
The inherited retinal diseases (IRDs) have traditionally been described phenotypically with the description evolving to incorporate more sophisticated structural and functional assessments. In the last 25 years there has been considerable advances in the understanding of underlying genetic aetiologies. The role of the ophthalmologist is now to work in a multi-disciplinary team to identify the disease-causing genotype, which might be amenable to gene-directed intervention. Visual electrophysiology is an important tool to assist the ophthalmologist in guiding the clinical geneticist to reach a final molecular diagnosis. This review outlines the physiological basis for the ISCEV standard electrophysiology tests, the role of electrophysiology in localising the functional deficit, correlation with structural findings to guide diagnosis and finally management of IRDs in the era of genomics with emphasis on the outer retina.
引用
收藏
页码：2406 / 2418
页数：13
相关论文
共 74 条
  • [1] HUMAN PERIPHERAL SPATIAL-RESOLUTION FOR ACHROMATIC AND CHROMATIC STIMULI - LIMITS IMPOSED BY OPTICAL AND RETINAL FACTORS
    ANDERSON, SJ
    MULLEN, KT
    HESS, RF
    [J]. JOURNAL OF PHYSIOLOGY-LONDON, 1991, 442 : 47 - 64
  • [2] S-cone ERGs elicited by a simple technique in normals and in tritanopes
    Arden, G
    Wolf, J
    Berninger, T
    Hogg, CR
    Tzekov, R
    Holder, GE
    [J]. VISION RESEARCH, 1999, 39 (03) : 641 - 650
  • [3] Assessing Residual Cone Function in Retinitis Pigmentosa Patients
    Arsiwalla, Tasneem A.
    Cornish, Elisa E.
    Phuc Vuong Nguyen
    Korsakova, Maria
    Ali, Haipha
    Saakova, Nonna
    Fraser, Clare L.
    Jamieson, Robyn, V
    Grigg, John R.
    [J]. TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, 2020, 9 (13): : 1 - 12
  • [4] Phenotypic variation in enhanced S-cone syndrome
    Audo, Isabelle
    Michaelides, Michel
    Robson, Anthony G.
    Hawlina, Marko
    Vaclavik, Veronika
    Sandbach, Jennifer M.
    Neveu, Magella M.
    Hogg, Chris R.
    Hunt, David M.
    Moore, Anthony T.
    Bird, Alan C.
    Webster, Andrew R.
    Holder, Graham E.
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2008, 49 (05) : 2082 - 2093
  • [5] Check size tuning of the pattern electroretingoram: A reappraisal
    Bach, M
    Holder, GE
    [J]. DOCUMENTA OPHTHALMOLOGICA, 1996, 92 (03) : 193 - 202
  • [6] ISCEV standard for clinical pattern electroretinography (PERG): 2012 update
    Bach, Michael
    Brigell, Mitchell G.
    Hawlina, Marko
    Holder, Graham E.
    Johnson, Mary A.
    McCulloch, Daphne L.
    Meigen, Thomas
    Viswanathan, Suresh
    [J]. DOCUMENTA OPHTHALMOLOGICA, 2013, 126 (01) : 1 - 7
  • [7] Long-term visual prognoses in patients with retinitis pigmentosa: The Ludwig von Sallmann lecture
    Berson, Eliot L.
    [J]. EXPERIMENTAL EYE RESEARCH, 2007, 85 (01) : 7 - 14
  • [8] Inner retinal contributions to the primate photopic fast flicker electroretinogram
    Bush, RA
    Sieving, PA
    [J]. JOURNAL OF THE OPTICAL SOCIETY OF AMERICA A-OPTICS IMAGE SCIENCE AND VISION, 1996, 13 (03): : 557 - 565
  • [9] Bradyopsia in an Asian man
    Cheng, Jacob Y. C.
    Luu, Chi D.
    Yong, Victor H. K.
    Mathur, Ranjana
    Aung, Tin
    Vithana, Eranga N.
    [J]. ARCHIVES OF OPHTHALMOLOGY, 2007, 125 (08) : 1138 - 1140
  • [10] ISCEV Standard for clinical electro-oculography (2017 update)
    Constable, Paul A.
    Bach, Michael
    Frishman, Laura J.
    Jeffrey, Brett G.
    Robson, Anthony G.
    [J]. DOCUMENTA OPHTHALMOLOGICA, 2017, 134 (01) : 1 - 9
12345678