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USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies

Authors :
Benedetto Falsini
Giorgio Placidi
Elisa De Siena
Maria Cristina Savastano
Angelo Maria Minnella
Martina Maceroni
Giulia Midena
Lucia Ziccardi
Vincenzo Parisi
Matteo Bertelli
Paolo Enrico Maltese
Pietro Chiurazzi
Stanislao Rizzo
Source :
Diagnostics, Vol 11, Iss 2, p 213 (2021)
Publication Year :
2021
Publisher :
MDPI AG, 2021.

Abstract

Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width. The aim of this study was to retrospectively determine RP stage in a cohort of patients with USH2A gene variants and to correlate the results with age, as well as additional functional and morphological parameters. In 26 patients with established USH2A genotype, RP was staged according to recent international standards. The cumulative staging score was correlated with patients’ age, amplitude of full-field and focal flicker ERGs, and the OCT-measured area of sub-Retinal Pigment Epithelium (RPE) illumination (SRI). RP cumulative score (CS) was positively correlated (r = 0.6) with age. CS was also negatively correlated (rho = −0.7) with log10 ERG amplitudes and positively correlated (r = 0.5) with SRI. In USH2A patients, RP severity score is correlated with age and additional morpho-functional parameters not included in the international staging system and can reliably predict their abnormality at different stages of disease.

Details

Language :
English
ISSN :
20754418
Volume :
11
Issue :
2
Database :
Directory of Open Access Journals
Journal :
Diagnostics
Publication Type :
Academic Journal
Accession number :
edsdoj.3803053cf6554112b5abbe8586eebd98
Document Type :
article
Full Text :
https://doi.org/10.3390/diagnostics11020213