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
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 50 条
  • [21] Macular neovascularization in inherited retinal diseases: A review
    Jeffery, Rachael C. Heath
    Chen, Fred K.
    SURVEY OF OPHTHALMOLOGY, 2024, 69 (01) : 1 - 23
  • [22] Expanding the Mutation Spectrum for Inherited Retinal Diseases
    Lynn, Jacob
    Huang, Samuel J.
    Trigler, Grace K.
    Kingsley, Ronald
    Coussa, Razek G.
    Bennett, Lea D.
    GENES, 2025, 16 (01)
  • [23] Genetic testing and diagnosis of inherited retinal diseases
    Lam, Byron L.
    Leroy, Bart P.
    Black, Graeme
    Ong, Tuyen
    Yoon, Dan
    Trzupek, Karmen
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [24] Neurotrophic Factors in the Treatment of Inherited Retinal Diseases
    Blouin, Laure
    Sahel, Jose-Alain
    Chung, Daniel C.
    COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2024, 14 (12):
  • [25] Genetic analysis on inherited retinal diseases in Greece
    Cancellieri, Francesca
    Nikopoulos, Konstantinos
    Quinodoz, Mathieu
    Ansar, Muhammad
    Kozeis, Nikolaos
    Tsenikoglou, Christina
    Triantafylla, Magda
    Giannopoulos, Theodoros
    Kozei, Athina
    Rivolta, Carlo
    Panagiotou, Evangelia S.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [26] Genetics of Inherited Retinal Diseases in Understudied Populations
    Kannabiran, Chitra
    Parameswarappa, Deepika
    Jalali, Subhadra
    FRONTIERS IN GENETICS, 2022, 13
  • [27] Genetic testing and diagnosis of inherited retinal diseases
    Byron L. Lam
    Bart P. Leroy
    Graeme Black
    Tuyen Ong
    Dan Yoon
    Karmen Trzupek
    Orphanet Journal of Rare Diseases, 16
  • [28] Intravitreal enzyme replacement for inherited retinal diseases
    Rodriguez-Martinez, Ana Catalina
    Wawrzynski, James
    Henderson, Robert H.
    CURRENT OPINION IN OPHTHALMOLOGY, 2024, 35 (03) : 232 - 237
  • [29] MERTK mutation update in inherited retinal diseases
    Audo, Isabelle
    Mohand-Said, Saddek
    Boulanger-Scemama, Elise
    Zanlonghi, Xavier
    Condroyer, Christel
    Demontant, Vanessa
    Boyard, Fiona
    Antonio, Aline
    Mejecase, Cecile
    El Shamieh, Said
    Sahel, Jose-Alain
    Zeitz, Christina
    HUMAN MUTATION, 2018, 39 (07) : 887 - 913
  • [30] Adaptive optics imaging of inherited retinal diseases
    Georgiou, Michalis
    Kalitzeos, Angelos
    Patterson, Emily J.
    Dubra, Alfredo
    Carroll, Joseph
    Michaelides, Michel
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2018, 102 (08) : 1028 - 1035