Structural evaluation in inherited retinal diseases

被引：21
作者：
Varela, Malena Daich [1 ,2 ]
Esener, Burak [3 ]
Hashem, Shaima A. [1 ,2 ]
de Guimaraes, Thales Antonio Cabral [1 ,2 ]
Georgiou, Michalis [1 ,2 ]
Michaelides, Michel [1 ,2 ]
机构：
[1] Moorfields Eye Hosp, City Rd Campus, London, England
[2] UCL, UCL Inst Ophthalmol, London, England
[3] Inonu Univ, Dept Ophthalmol, Sch Med, Malatya, Turkey
来源：
BRITISH JOURNAL OF OPHTHALMOLOGY | 2021年 / 105卷 / 12期
基金：
英国惠康基金;
关键词：
imaging; genetics; clinical trial; retina; dystrophy; OPTICAL COHERENCE TOMOGRAPHY; NEAR-INFRARED AUTOFLUORESCENCE; CONE DENSITY-MEASUREMENTS; VESSEL OXYGEN-SATURATION; FUNDUS AUTOFLUORESCENCE; RETINITIS-PIGMENTOSA; STARGARDT DISEASE; IN-VIVO; VISUAL FUNCTION; ATROPHY SECONDARY;
D O I：
10.1136/bjophthalmol-2021-319228
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
Ophthalmic genetics is a field that has been rapidly evolving over the last decade, mainly due to the flourishing of translational medicine for inherited retinal diseases (IRD). In this review, we will address the different methods by which retinal structure can be objectively and accurately assessed in IRD. We review standard-of-care imaging for these patients: colour fundus photography, fundus autofluorescence imaging and optical coherence tomography (OCT), as well as higher-resolution and/or newer technologies including OCT angiography, adaptive optics imaging, fundus imaging using a range of wavelengths, magnetic resonance imaging, laser speckle flowgraphy and retinal oximetry, illustrating their utility using paradigm genotypes with on-going therapeutic efforts/trials.
引用
收藏
页码：1623 / 1631
页数：9
相关论文
共 135 条
  • [31] Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
    Foote, Katharina G.
    Wong, Jessica J.
    Boehm, Alexandra E.
    Bensinger, Ethan
    Porco, Travis C.
    Roorda, Austin
    Duncan, Jacque L.
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (04)
  • [32] Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques
    Fujinami-Yokokawa, Yu
    Pontikos, Nikolas
    Yang, Lizhu
    Tsunoda, Kazushige
    Yoshitake, Kazutoshi
    Iwata, Takeshi
    Miyata, Hiroaki
    Fujinami, Kaoru
    [J]. JOURNAL OF OPHTHALMOLOGY, 2019, 2019
  • [33] Optical Coherence Tomography: History, Current Status, and Laboratory Work
    Gabriele, Michelle L.
    Wollstein, Gadi
    Ishikawa, Hiroshi
    Kagemann, Larry
    Xu, Juan
    Folio, Lindsey S.
    Schuman, Joel S.
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2011, 52 (05) : 2425 - 2436
  • [34] The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective
    Galvin, Orla
    Chi, Gloria
    Brady, Laura
    Hippert, Claire
    Rubido, Marta Del Valle
    Daly, Avril
    Michaelides, Michel
    [J]. CLINICAL OPHTHALMOLOGY, 2020, 14 : 707 - 719
  • [35] Photoreceptor Structure and Function in Patients with Congenital Achromatopsia
    Genead, Mohamed A.
    Fishman, Gerald A.
    Rha, Jungtae
    Dubis, Adam M.
    Bonci, Daniela Maria O.
    Dubra, Alfredo
    Stone, Edwin M.
    Neitz, Maureen
    Carroll, Joseph
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2011, 52 (10) : 7298 - 7308
  • [36] Georgiou Michalis, 2020, Ann Eye Sci, V5, DOI 10.21037/aes-20-81
  • [37] Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3-Associated Achromatopsia
    Georgiou, Michalis
    Litts, Katie M.
    Singh, Navjit
    Kane, Thomas
    Patterson, Emily J.
    Hirji, Nashila
    Kalitzeos, Angelos
    Dubra, Alfredo
    Michaelides, Michel
    Carroll, Joseph
    [J]. TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, 2020, 9 (07): : 1 - 10
  • [38] Photoreceptor Structure in GNAT2-Associated Achromatopsia
    Georgiou, Michalis
    Singh, Navjit
    Kane, Thomas
    Robson, Anthony G.
    Kalitzeos, Angelos
    Hirji, Nashila
    Webster, Andrew R.
    Dubra, Alfredo
    Carroll, Joseph
    Michaelides, Michel
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (03)
  • [39] Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry
    Georgiou, Michalis
    Kane, Thomas
    Tanna, Preena
    Bouzia, Zaina
    Singh, Navjit
    Kalitzeos, Angelos
    Strauss, Rupert W.
    Fujinami, Kaoru
    Michaelides, Michel
    [J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 2020, 211 : 159 - 175
  • [40] Deep Phenotyping of PDE6C-Associated Achromatopsia
    Georgiou, Michalis
    Robson, Anthony G.
    Singh, Navjit
    Pontikos, Nikolas
    Kane, Thomas
    Hirji, Nashila
    Ripamonti, Caterina
    Rotsos, Tryfon
    Dubra, Alfredo
    Kalitzeos, Angelos
    Webster, Andrew R.
    Carroll, Joseph
    Michaelides, Michel
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (15) : 5112 - 5123
12345678910