TY - JOUR
T1 - USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies
AU - Falsini, Benedetto
AU - Placidi, Giorgio
AU - De Siena, Elisa
AU - Savastano, Maria Cristina
AU - Minnella, Angelo Maria
AU - Maceroni, Martina
AU - Midena, Giulia
AU - Ziccardi, Lucia
AU - Parisi, Vincenzo
AU - Bertelli, Matteo
AU - Maltese, Paolo Enrico
AU - Chiurazzi, Pietro
AU - Rizzo, Stanislao
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Usher 2A gene
KW - Usher syndrome
KW - electroretinogram
KW - retinal pigment epithelium (RPE) and outer retina atrophy (RORA)
KW - retinitis pigmentosa
KW - staging
KW - sub-RPE illumination (SRI)
KW - Usher 2A gene
KW - Usher syndrome
KW - electroretinogram
KW - retinal pigment epithelium (RPE) and outer retina atrophy (RORA)
KW - retinitis pigmentosa
KW - staging
KW - sub-RPE illumination (SRI)
UR - http://hdl.handle.net/10807/174679
U2 - 10.3390/diagnostics11020213
DO - 10.3390/diagnostics11020213
M3 - Article
SN - 2075-4418
VL - 11
SP - 213-N/A
JO - Diagnostics
JF - Diagnostics
ER -