{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T14:40:06Z","timestamp":1780584006150,"version":"3.54.1"},"reference-count":27,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Res"],"published-print":{"date-parts":[[2022]]},"abstract":"<b><i>Introduction:<\/i><\/b> 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 <i>USH2A<\/i> gene, and to correlate optical coherence tomography (OCT) parameters with functional and genetic data. <b><i>Methods:<\/i><\/b> 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 <i>USH2A<\/i>-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 <i>USH2A<\/i> gene were divided into 3 categories, according to the expected impact (low\/high) at protein level of the different variants on each allele. <b><i>Results:<\/i><\/b> BCVA and EZ width were significantly lower in Ush2 than in arRP patients (<i>p<\/i> &#x3c; 0.0001 and <i>p<\/i> = 0.001). ERM was detected in 34.8% (16\/46) of arRP patients and in 65.2% (30\/46) of Ush2 patients (<i>p<\/i> = 0.003). CML was detected in 17.4% (8\/46) of arRP patients and 30.4% (14\/46) of Ush2 patients (<i>p<\/i> = 0.14). The allelic distribution was statistically different (<i>p<\/i> = 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 (<i>p<\/i> = 0.004 and <i>p<\/i> = 0.002, respectively). <b><i>Conclusion:<\/i><\/b> 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 <i>USH2A<\/i> 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. <\/jats:p>","DOI":"10.1159\/000520329","type":"journal-article","created":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T09:56:16Z","timestamp":1644314176000},"page":"180-195","source":"Crossref","is-referenced-by-count":14,"title":["Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to <b><i>USH2A<\/i><\/b> Genetic Variants"],"prefix":"10.1159","volume":"65","author":[{"given":"Leonardo","family":"Colombo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo 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Mattia","family":"Modarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Bertelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Rossetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,11,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2005.11.010"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/s0378-5955(01)00344-6"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0610950104"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2017.65"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2013.4160"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-15013"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2015.06.032"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0372-0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.26355\/eurrev_201908_18566"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.2.219"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1080\/13816810590918118"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.075143"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200491"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2004.03.005"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2009.107"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200004)15:4%3c388::AID-HUMU27%3e3.0.CO;2-N"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01257.x"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1086\/302926"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-2009"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2010.02321.x"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000005785"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1977.04450050076006"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/s10792-014-9975-z"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2016-014644"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e31809862aa"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/s0002-9394(99)00100-2"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1097\/01.iae.0000250008.83779.23"}],"container-title":["Ophthalmic 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