Retinal Imaging Findings in Inherited Retinal Diseases.
adaptive optics
fundus autofluorescence
inherited retinal diseases
optical coherence tomography
precision medicine
retinal imaging
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
03 Apr 2024
03 Apr 2024
Historique:
received:
14
02
2024
revised:
19
03
2024
accepted:
27
03
2024
medline:
13
4
2024
pubmed:
13
4
2024
entrez:
13
4
2024
Statut:
epublish
Résumé
Inherited retinal diseases (IRDs) represent one of the major causes of progressive and irreversible vision loss in the working-age population. Over the last few decades, advances in retinal imaging have allowed for an improvement in the phenotypic characterization of this group of diseases and have facilitated phenotype-to-genotype correlation studies. As a result, the number of clinical trials targeting IRDs has steadily increased, and commensurate to this, the need for novel reproducible outcome measures and endpoints has grown. This review aims to summarize and describe the clinical presentation, characteristic imaging findings, and imaging endpoint measures that are being used in clinical research on IRDs. For the purpose of this review, IRDs have been divided into four categories: (1) panretinal pigmentary retinopathies affecting rods or cones; (2) macular dystrophies; (3) stationary conditions; (4) hereditary vitreoretinopathies.
Identifiants
pubmed: 38610844
pii: jcm13072079
doi: 10.3390/jcm13072079
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng