PMID- 34781295
OWN - NLM
STAT- MEDLINE
DCOM- 20220427
LR  - 20220427
IS  - 1423-0259 (Electronic)
IS  - 0030-3747 (Linking)
VI  - 65
IP  - 2
DP  - 2022
TI  - Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and 
      Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
PG  - 180-195
LID - 10.1159/000520329 [doi]
AB  - INTRODUCTION: This study aimed to analyze macular structure by using 
      spectral-domain optical coherence tomography (SD-OCT) in a cohort of patients 
      affected by autosomal recessive retinitis pigmentosa and Usher syndrome, due to 
      genetic variants in USH2A gene, and to correlate optical coherence tomography 
      (OCT) parameters with functional and genetic data. METHODS: The subjects of this 
      study were 92 patients, 46 syndromic (Usher syndrome type IIa [Ush2]) and 46 
      nonsyndromic (autosomal recessive RP [arRP]), with clinical and genetic diagnosis 
      of USH2A-related retinal dystrophy, who underwent a complete ophthalmic 
      examination and spectral-domain OCT analysis. The study focused on evaluating the 
      differences between the 2 groups in the following parameters: best-corrected 
      visual acuity (BCVA), ellipsoid zone (EZ) width, presence of epiretinal membrane 
      (ERM), and cystic macular lesions (CMLs). Variants in USH2A gene were divided 
      into 3 categories, according to the expected impact (low/high) at protein level 
      of the different variants on each allele. RESULTS: BCVA and EZ width were 
      significantly lower in Ush2 than in arRP patients (p < 0.0001 and p = 0.001). ERM 
      was detected in 34.8% (16/46) of arRP patients and in 65.2% (30/46) of Ush2 
      patients (p = 0.003). CML was detected in 17.4% (8/46) of arRP patients and 30.4% 
      (14/46) of Ush2 patients (p = 0.14). The allelic distribution was statistically 
      different (p = 0.0003) by dividing the 2 diseases: for Ush2 patients it was 45.7% 
      (high/high), 39.1% (low/high) and 15.2% (low/low); for arRP patients it was 8.7% 
      (high/high), 56.5% (low/high), and 34.8% (low/low). The severity class of the 
      variants significantly affected visual acuity and EZ width parameters (p = 0.004 
      and p = 0.002, respectively). CONCLUSION: Retinal disease, as evaluated by means 
      of SD-OCT, shows more advanced degeneration signs in the syndromic than the 
      nonsyndromic form of retinal dystrophy related to USH2A gene. Variant types and 
      allelic profiles are determining factors for the onset of syndromic features. 
      However, since the 3 allelic profiles can be found in both Usher and RP patients, 
      other factors must necessarily play a determining role.
CI  - (c) 2021 The Author(s). Published by S. Karger AG, Basel.
FAU - Colombo, Leonardo
AU  - Colombo L
AD  - Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of 
      Milan, Milan, Italy.
FAU - Maltese, Paolo Enrico
AU  - Maltese PE
AD  - MAGI'S Lab s.r.l., Rovereto, Italy.
FAU - Romano, Dario
AU  - Romano D
AD  - Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of 
      Milan, Milan, Italy.
FAU - Fogagnolo, Paolo
AU  - Fogagnolo P
AD  - Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of 
      Milan, Milan, Italy.
FAU - Castori, Marco
AU  - Castori M
AD  - Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 
      San Giovanni Rotondo, Italy.
FAU - Marceddu, Giuseppe
AU  - Marceddu G
AD  - MAGI Euregio s.c.s., Bolzano, Italy.
FAU - Cristofoli, Francesca
AU  - Cristofoli F
AD  - MAGI Euregio s.c.s., Bolzano, Italy.
FAU - Percio, Marcella
AU  - Percio M
AD  - MAGI'S Lab s.r.l., Rovereto, Italy.
FAU - Pitekova, Barbora
AU  - Pitekova B
AD  - Department of Pediatrics, Comenius University Faculty of Medicine, National 
      Institute of Children's Diseases, Bratislava, Slovakia.
FAU - Modarelli, Antonio Mattia
AU  - Modarelli AM
AD  - Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of 
      Milan, Milan, Italy.
FAU - Bertelli, Matteo
AU  - Bertelli M
AD  - MAGI'S Lab s.r.l., Rovereto, Italy.
AD  - MAGI Euregio s.c.s., Bolzano, Italy.
FAU - Rossetti, Luca
AU  - Rossetti L
AD  - Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of 
      Milan, Milan, Italy.
LA  - eng
PT  - Journal Article
DEP - 20211115
PL  - Switzerland
TA  - Ophthalmic Res
JT  - Ophthalmic research
JID - 0267442
RN  - 0 (Extracellular Matrix Proteins)
RN  - 0 (USH2A protein, human)
RN  - Usher syndrome, type 2A
SB  - IM
MH  - Extracellular Matrix Proteins/genetics/metabolism
MH  - Humans
MH  - Mutation
MH  - *Retinitis Pigmentosa/diagnosis/genetics
MH  - Tomography, Optical Coherence/methods
MH  - *Usher Syndromes/diagnosis/genetics
OTO - NOTNLM
OT  - Autosomal recessive retinitis pigmentosa
OT  - Spectral-domain optical coherence tomography
OT  - Usher syndrome
OT  - Usher syndrome type 2A
EDAT- 2021/11/16 06:00
MHDA- 2022/04/28 06:00
CRDT- 2021/11/15 20:30
PHST- 2021/06/25 00:00 [received]
PHST- 2021/10/09 00:00 [accepted]
PHST- 2021/11/16 06:00 [pubmed]
PHST- 2022/04/28 06:00 [medline]
PHST- 2021/11/15 20:30 [entrez]
AID - 000520329 [pii]
AID - 10.1159/000520329 [doi]
PST - ppublish
SO  - Ophthalmic Res. 2022;65(2):180-195. doi: 10.1159/000520329. Epub 2021 Nov 15.