Structural Evaluation in Inherited Retinal Diseases

Overview

Journal Br J Ophthalmol

Specialty Ophthalmology

Date 2021 May 13

PMID 33980508

Citations 9

Authors

Malena Daich Varela

Burak Esener

Shaima A Hashem

Thales Antonio Cabral de Guimaraes

Michalis Georgiou

Michel Michaelides

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom.

Woof W, de Guimaraes T, Al-Khuzaei S, Varela M, Sen S, Bagga P Ophthalmol Sci. 2025; 5(2):100652.

PMID: 39896422 PMC: 11782848. DOI: 10.1016/j.xops.2024.100652.

Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

Lee B, Sun C, Ong C, Jain K, Tan T, Chan C Taiwan J Ophthalmol. 2025; 14(4):486-496.

PMID: 39803408 PMC: 11717338. DOI: 10.4103/tjo.TJO-D-24-00066.

Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.

Igoe J, Lam B, Gregori N J Clin Med. 2024; 13(18).

PMID: 39336999 PMC: 11431936. DOI: 10.3390/jcm13185512.

IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.

Sen S, Fabozzi L, Fujinami K, Fujinami-Yokokawa Y, Wright G, Webster A Am J Ophthalmol. 2024; 264:205-215.

PMID: 38522724 PMC: 11752837. DOI: 10.1016/j.ajo.2024.03.009.

Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.

Varela M, Dixit M, Kalitzeos A, Michaelides M Invest Ophthalmol Vis Sci. 2024; 65(3):9.

PMID: 38466282 PMC: 10929749. DOI: 10.1167/iovs.65.3.9.

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