Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes

Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encomp...

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Bibliographic Details
Published in:Diagnostics (Basel) 2023-07, Vol.13 (15), p.2472
Main Authors: Samelska, Katarzyna, Szaflik, Jacek Paweł, Guszkowska, Maria, Kurowska, Anna Katarzyna, Zaleska-Żmijewska, Anna
Format: Article
Language:English
Subjects:
adaptive optics
Atrophy
cone dystrophy
cone-rod dystrophy
Disease
Genes
inherited retinal diseases
inherited retinal dystrophies
Morphology
Mutation
Photoreceptors
Retina
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Summary:Inherited retinal dystrophies (IRDs) are genetic disorders that lead to the bilateral degeneration of the retina, causing irreversible vision loss. These conditions often manifest during the first and second decades of life, and their primary symptoms can be non-specific. Diagnostic processes encompass assessments of best-corrected visual acuity, fundoscopy, optical coherence tomography, fundus autofluorescence, fluorescein angiography, electrophysiological tests, and genetic testing. This study focuses on the application of adaptive optics (AO), a non-invasive retinal examination, for the assessment of patients with IRDs. AO facilitates the high-quality, detailed observation of retinal photoreceptor structures (cones and rods) and enables the quantitative analysis of parameters such as cone density (DM), cone spacing (SM), cone regularity (REG), and Voronoi analysis (N%6). AO examinations were conducted on eyes diagnosed with Stargardt disease (STGD, N=36), cone dystrophy (CD, N=9), and cone-rod dystrophy (CRD, N=8), and on healthy eyes (N=14). There were significant differences in the DM, SM, REG, and N%6 parameters between the healthy and IRD-affected eyes (p
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics13152472