{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T01:15:05Z","timestamp":1775610905779,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,9,19]],"date-time":"2017-09-19T00:00:00Z","timestamp":1505779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP06233"],"award-info":[{"award-number":["GGP06233"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (<jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content>) stratified by <jats:italic><jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>1<\/jats:italic> gene mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Multifocal electroretinogram (mfERG) was recorded in 18 <jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content> patients (<jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content> group, 35 eyes) and 25 age\u2010matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (<jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content>\u2010M group, 11 eyes) and mutation causing haploinsufficiency (<jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content>\u2010H group, 24 eyes). The mf<jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content> N1\u2010P1 response amplitude density (<jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>) has been evaluated in five annular retinal areas with different eccentricity from the fovea (ring 1: 0\u20135 degrees, R1; ring 2: 5\u201310 degrees, R2; ring 3: 10\u201315 degrees, R3; ring 4: 15\u201320 degrees, R4; and ring 5: 20\u201325 degrees, R5) and in eight sectors on the basis of the retinal topography: temporal\u2013superior (<jats:styled-content style=\"fixed-case\">TS<\/jats:styled-content>), temporal\u2013inferior (<jats:styled-content style=\"fixed-case\">TI<\/jats:styled-content>), nasal\u2013superior (<jats:styled-content style=\"fixed-case\">NS<\/jats:styled-content>) and nasal\u2013inferior (<jats:styled-content style=\"fixed-case\">NI<\/jats:styled-content>), temporal (T), superior (S), nasal (N) and inferior (I).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Compared to controls, <jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content> group revealed a significant reduction in N1\u2010P1 <jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>s values in R1\u2010R4 rings and in <jats:styled-content style=\"fixed-case\">TI<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> NS<\/jats:styled-content> and N sectors [analysis of variance (<jats:styled-content style=\"fixed-case\">ANOVA<\/jats:styled-content>), p\u00a0&lt;\u00a00.01). <jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content>\u2010M group showed a significant reduction in N1\u2010P1 <jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>s values in R1\u2010R5 rings and in <jats:styled-content style=\"fixed-case\">TI<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> NS<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> NI<\/jats:styled-content>, T, N and I sectors (p\u00a0&lt;\u00a00.01). Dominant optic atrophy\u2010H (DOA\u2010H) group displayed only a significant (p\u00a0&lt;\u00a00.01) reduction in N1\u2010P1 <jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>s values, exclusively in R1 and in the <jats:styled-content style=\"fixed-case\">NS<\/jats:styled-content> sector.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Preganglionic retinal impairment occurs in <jats:styled-content style=\"fixed-case\">DOA<\/jats:styled-content> with a clear genotype to retinal dysfunction association. Missense mutations are characterized by a far more severe functional impairment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.13557","type":"journal-article","created":{"date-parts":[[2017,9,19]],"date-time":"2017-09-19T13:53:04Z","timestamp":1505829184000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Retinal dysfunction characterizes subtypes of dominant optic atrophy"],"prefix":"10.1111","volume":"96","author":[{"given":"Maria Lucia","family":"Cascavilla","sequence":"first","affiliation":[{"name":"Scientific Institute San Raffaele Via Olgettina Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Parisi","sequence":"additional","affiliation":[{"name":"\u201cG.B. 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