{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:58:05Z","timestamp":1791928685507,"version":"4.3.4"},"reference-count":44,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"10","license":[{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2018,8,1]]},"DOI":"10.1167\/iovs.17-23703","type":"journal-article","created":{"date-parts":[[2018,8,3]],"date-time":"2018-08-03T03:34:24Z","timestamp":1533267264000},"page":"3827","source":"Crossref","is-referenced-by-count":7,"title":["Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy"],"prefix":"10.1167","volume":"59","author":[{"given":"Lucia","family":"Galli-Resta","sequence":"first","affiliation":[{"name":"Istituto di Neuroscienze CNR, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Placidi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Policlinico Gemelli, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Campagna","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Policlinico Gemelli, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Ziccardi","sequence":"additional","affiliation":[{"name":"Fondazione Bietti, IRCSS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Piccardi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Policlinico Gemelli, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Minnella","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Policlinico Gemelli, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Abed","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Policlinico Gemelli, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Iovine","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Policlinico Gemelli, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Maltese","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, MAGI Euregio SCS, Bolzano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Bertelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, MAGI Euregio SCS, Bolzano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetto","family":"Falsini","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Policlinico Gemelli, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"i1552-5783-59-10-3827-b01","doi-asserted-by":"crossref","unstructured":"Fishman\n\t\t\t\t\t\t\tGA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKumar\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tJoseph\n\t\t\t\t\t\t\tME,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tTorok\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAnderson\n\t\t\t\t\t\t\tRJ.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tUsher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.\n\t\t\t\t\tArch Ophthalmol.\n\t\t\t\t\t1983;\n\t\t\t\t\t101:\n\t\t\t\t\t1367\u20131374.","DOI":"10.1001\/archopht.1983.01040020369005"},{"key":"i1552-5783-59-10-3827-b02","doi-asserted-by":"crossref","unstructured":"Keats\n\t\t\t\t\t\t\tBJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCorey\n\t\t\t\t\t\t\tDP.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tThe usher syndromes.\n\t\t\t\t\tAm J Med Genet.\n\t\t\t\t\t1999;\n\t\t\t\t\t89:\n\t\t\t\t\t158\u2013166.","DOI":"10.1002\/(SICI)1096-8628(19990924)89:3<158::AID-AJMG6>3.0.CO;2-#"},{"key":"i1552-5783-59-10-3827-b03","unstructured":"Mets\n\t\t\t\t\t\t\tMB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tYoung\n\t\t\t\t\t\t\tNM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPass\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLasky\n\t\t\t\t\t\t\tJB.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tEarly diagnosis of Usher syndrome in children.\n\t\t\t\t\tTrans Am Ophthalmol Soc.\n\t\t\t\t\t2000;\n\t\t\t\t\t98:\n\t\t\t\t\t237\u2013242;\n\t\t\t\t\tdiscussion 243\u2013245."},{"key":"i1552-5783-59-10-3827-b04","doi-asserted-by":"crossref","unstructured":"Loundon\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMarlin\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBusquet\n\t\t\t\t\t\t\tD,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tUsher syndrome and cochlear implantation.\n\t\t\t\t\tOtol Neurotol.\n\t\t\t\t\t2003;\n\t\t\t\t\t24:\n\t\t\t\t\t216\u2013221.","DOI":"10.1097\/00129492-200303000-00015"},{"key":"i1552-5783-59-10-3827-b05","doi-asserted-by":"crossref","unstructured":"Kimberling\n\t\t\t\t\t\t\tWJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHildebrand\n\t\t\t\t\t\t\tMS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tShearer\n\t\t\t\t\t\t\tAE,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tFrequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children.\n\t\t\t\t\tGenet Med.\n\t\t\t\t\t2010;\n\t\t\t\t\t12:\n\t\t\t\t\t512\u2013516.","DOI":"10.1097\/GIM.0b013e3181e5afb8"},{"key":"i1552-5783-59-10-3827-b06","doi-asserted-by":"crossref","unstructured":"Petit\n\t\t\t\t\t\t\tC.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tUsher syndrome: from genetics to pathogenesis.\n\t\t\t\t\tAnnu Rev Genomics Hum Genet.\n\t\t\t\t\t2001;\n\t\t\t\t\t2:\n\t\t\t\t\t271\u2013297.","DOI":"10.1146\/annurev.genom.2.1.271"},{"key":"i1552-5783-59-10-3827-b07","doi-asserted-by":"crossref","unstructured":"Boughman\n\t\t\t\t\t\t\tJA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tVernon\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tShaver\n\t\t\t\t\t\t\tKA.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tUsher syndrome: definition and estimate of prevalence from two high-risk populations.\n\t\t\t\t\tJ Chronic Dis.\n\t\t\t\t\t1983;\n\t\t\t\t\t36:\n\t\t\t\t\t595\u2013603.","DOI":"10.1016\/0021-9681(83)90147-9"},{"key":"i1552-5783-59-10-3827-b08","unstructured":"Davenport SLH, Omenn GS.\n\t\t\t\t\tThe heterogeneity of Usher syndrome.\n\t\t\t\t\tIn:\n\t\t\t\t\tLittlefield JW, de Grouchy J, Ebling FJG.\n\t\t\t\t\tProceedings of the 5th International Conference on Birth Defects, Montreal, Canada, 21-27 August, 1997.\n\t\t\t\t\tAmsterdam:\n\t\t\t\t\tExcerpta Medica;\n\t\t\t\t\t1977."},{"key":"i1552-5783-59-10-3827-b09","doi-asserted-by":"crossref","unstructured":"Smith\n\t\t\t\t\t\t\tRJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBerlin\n\t\t\t\t\t\t\tCI,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHejtmancik\n\t\t\t\t\t\t\tJF,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tClinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.\n\t\t\t\t\tAm J Med Genet.\n\t\t\t\t\t1994;\n\t\t\t\t\t50:\n\t\t\t\t\t32\u201338.","DOI":"10.1002\/ajmg.1320500107"},{"key":"i1552-5783-59-10-3827-b10","doi-asserted-by":"crossref","unstructured":"Grondahl\n\t\t\t\t\t\t\tJ.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tEstimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.\n\t\t\t\t\tClin Genet.\n\t\t\t\t\t1987;\n\t\t\t\t\t31:\n\t\t\t\t\t255\u2013264.","DOI":"10.1111\/j.1399-0004.1987.tb02804.x"},{"key":"i1552-5783-59-10-3827-b11","doi-asserted-by":"crossref","unstructured":"Hope\n\t\t\t\t\t\t\tCI,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBundey\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tProops\n\t\t\t\t\t\t\tD,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFielder\n\t\t\t\t\t\t\tAR.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tUsher syndrome in the city of Birmingham\u2013prevalence and clinical classification.\n\t\t\t\t\tBr J Ophthalmol.\n\t\t\t\t\t1997;\n\t\t\t\t\t81:\n\t\t\t\t\t46\u201353.","DOI":"10.1136\/bjo.81.1.46"},{"key":"i1552-5783-59-10-3827-b12","doi-asserted-by":"crossref","unstructured":"Rosenberg\n\t\t\t\t\t\t\tT,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHaim\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHauch\n\t\t\t\t\t\t\tAM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tParving\n\t\t\t\t\t\t\tA.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tThe prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.\n\t\t\t\t\tClin Genet.\n\t\t\t\t\t1997;\n\t\t\t\t\t51:\n\t\t\t\t\t314\u2013321.","DOI":"10.1111\/j.1399-0004.1997.tb02480.x"},{"key":"i1552-5783-59-10-3827-b13","doi-asserted-by":"crossref","unstructured":"Spandau\n\t\t\t\t\t\t\tUH,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRohrschneider\n\t\t\t\t\t\t\tK.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tPrevalence and geographical distribution of Usher syndrome in Germany.\n\t\t\t\t\tGraefes Arch Clin Exp Ophthalmol.\n\t\t\t\t\t2002;\n\t\t\t\t\t240:\n\t\t\t\t\t495\u2013498.","DOI":"10.1007\/s00417-002-0485-8"},{"key":"i1552-5783-59-10-3827-b14","doi-asserted-by":"crossref","unstructured":"Fishman\n\t\t\t\t\t\t\tGA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBozbeyoglu\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMassof\n\t\t\t\t\t\t\tRW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKimberling\n\t\t\t\t\t\t\tW.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tNatural course of visual field loss in patients with Type 2 Usher syndrome.\n\t\t\t\t\tRetina.\n\t\t\t\t\t2007;\n\t\t\t\t\t27:\n\t\t\t\t\t601\u2013608.","DOI":"10.1097\/01.iae.0000246675.88911.2c"},{"key":"i1552-5783-59-10-3827-b15","doi-asserted-by":"crossref","unstructured":"Iannaccone\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKritchevsky\n\t\t\t\t\t\t\tSB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCiccarelli\n\t\t\t\t\t\t\tML,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tKinetics of visual field loss in Usher syndrome Type II.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2004;\n\t\t\t\t\t45:\n\t\t\t\t\t784\u2013792.","DOI":"10.1167\/iovs.03-0906"},{"key":"i1552-5783-59-10-3827-b16","doi-asserted-by":"crossref","unstructured":"Edwards\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFishman\n\t\t\t\t\t\t\tGA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAnderson\n\t\t\t\t\t\t\tRJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGrover\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDerlacki\n\t\t\t\t\t\t\tDJ.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tVisual acuity and visual field impairment in Usher syndrome.\n\t\t\t\t\tArch Ophthalmol.\n\t\t\t\t\t1998;\n\t\t\t\t\t116:\n\t\t\t\t\t165\u2013168.","DOI":"10.1001\/archopht.116.2.165"},{"key":"i1552-5783-59-10-3827-b17","unstructured":"van Meel\n\t\t\t\t\t\t\tGJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tvan Norren\n\t\t\t\t\t\t\tD.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tFoveal densitometry in retinitis pigmentosa.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t1983;\n\t\t\t\t\t24:\n\t\t\t\t\t1123\u20131130."},{"key":"i1552-5783-59-10-3827-b18","doi-asserted-by":"crossref","unstructured":"Biersdorf\n\t\t\t\t\t\t\tWR.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tThe clinical utility of the foveal electroretinogram: a review.\n\t\t\t\t\tDoc Ophthalmol.\n\t\t\t\t\t1989;\n\t\t\t\t\t73:\n\t\t\t\t\t313\u2013325.","DOI":"10.1007\/BF00154487"},{"key":"i1552-5783-59-10-3827-b19","doi-asserted-by":"crossref","unstructured":"Iarossi\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFalsini\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPiccardi\n\t\t\t\t\t\t\tM.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tRegional cone dysfunction in retinitis pigmentosa evaluated by flicker ERGs: relationship with perimetric sensitivity losses.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2003;\n\t\t\t\t\t44:\n\t\t\t\t\t866\u2013874.","DOI":"10.1167\/iovs.01-1256"},{"key":"i1552-5783-59-10-3827-b20","doi-asserted-by":"crossref","unstructured":"Alexander\n\t\t\t\t\t\t\tKR,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHutman\n\t\t\t\t\t\t\tLP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFishman\n\t\t\t\t\t\t\tGA.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tDark-adapted foveal thresholds and visual acuity in retinitis pigmentosa.\n\t\t\t\t\tArch Ophthalmol.\n\t\t\t\t\t1986;\n\t\t\t\t\t104:\n\t\t\t\t\t390\u2013394.","DOI":"10.1001\/archopht.1986.01050150090034"},{"key":"i1552-5783-59-10-3827-b21","doi-asserted-by":"crossref","unstructured":"Sumaroka\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMatsui\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCideciyan\n\t\t\t\t\t\t\tAV,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tOuter retinal changes including the ellipsoid zone band in Usher syndrome 1B due to MYO7A mutations.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2016;\n\t\t\t\t\t57:\n\t\t\t\t\tOCT253\u2013OCT261.","DOI":"10.1167\/iovs.15-18860"},{"key":"i1552-5783-59-10-3827-b22","doi-asserted-by":"crossref","unstructured":"Sun\n\t\t\t\t\t\t\tLW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tJohnson\n\t\t\t\t\t\t\tRD,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLanglo\n\t\t\t\t\t\t\tCS,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tAssessing photoreceptor structure in retinitis pigmentosa and Usher syndrome.\n\t\t\t\t\tInvest Ophthalmol Vis Sci\n\t\t\t\t\t2016;\n\t\t\t\t\t57:\n\t\t\t\t\t2428\u20132442.","DOI":"10.1167\/iovs.15-18246"},{"key":"i1552-5783-59-10-3827-b23","doi-asserted-by":"crossref","unstructured":"Falsini\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGalli-Resta\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFadda\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tLong-term decline of central cone function in retinitis pigmentosa evaluated by focal electroretinogram.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2012;\n\t\t\t\t\t53:\n\t\t\t\t\t7701\u20137709.","DOI":"10.1167\/iovs.12-11017"},{"key":"i1552-5783-59-10-3827-b24","doi-asserted-by":"crossref","unstructured":"Galli-Resta\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPiccardi\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZiccardi\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tEarly detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2013;\n\t\t\t\t\t54:\n\t\t\t\t\t6560\u20136569.","DOI":"10.1167\/iovs.13-12676"},{"key":"i1552-5783-59-10-3827-b25","doi-asserted-by":"crossref","unstructured":"Galli-Resta\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFalsini\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRossi\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tBilateral symmetry of visual function loss in cone-rod dystrophies.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2016;\n\t\t\t\t\t57:\n\t\t\t\t\t3759\u20133768.","DOI":"10.1167\/iovs.15-18313"},{"key":"i1552-5783-59-10-3827-b26","doi-asserted-by":"crossref","unstructured":"Kumar\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFishman\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tTorok\n\t\t\t\t\t\t\tN.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tVestibular and auditory function in Usher's syndrome.\n\t\t\t\t\tAnn Otol Rhinol Laryngol.\n\t\t\t\t\t1984;\n\t\t\t\t\t93:\n\t\t\t\t\t600\u2013608.","DOI":"10.1177\/000348948409300613"},{"key":"i1552-5783-59-10-3827-b27","doi-asserted-by":"crossref","unstructured":"Bonnet\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRiahi\n\t\t\t\t\t\t\tZ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tChantot-Bastaraud\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.\n\t\t\t\t\tEur J Hum Genet.\n\t\t\t\t\t2016;\n\t\t\t\t\t24:\n\t\t\t\t\t1730\u20131738.","DOI":"10.1038\/ejhg.2016.99"},{"key":"i1552-5783-59-10-3827-b28","doi-asserted-by":"crossref","unstructured":"Maltese\n\t\t\t\t\t\t\tPE,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tOrlova\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKrasikova\n\t\t\t\t\t\t\tE,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tGene-targeted analysis of clinically diagnosed long QT Russian families.\n\t\t\t\t\tInt Heart J.\n\t\t\t\t\t2017;\n\t\t\t\t\t58:\n\t\t\t\t\t81\u201387.","DOI":"10.1536\/ihj.16-133"},{"key":"i1552-5783-59-10-3827-b29","doi-asserted-by":"crossref","unstructured":"Berson\n\t\t\t\t\t\t\tEL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSandberg\n\t\t\t\t\t\t\tMA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRosner\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBirch\n\t\t\t\t\t\t\tDG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHanson\n\t\t\t\t\t\t\tAH.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tNatural course of retinitis pigmentosa over a three-year interval.\n\t\t\t\t\tAm J Ophthalmol.\n\t\t\t\t\t1985;\n\t\t\t\t\t99:\n\t\t\t\t\t240\u2013251.","DOI":"10.1016\/0002-9394(85)90351-4"},{"key":"i1552-5783-59-10-3827-b30","doi-asserted-by":"crossref","unstructured":"Falsini\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tIarossi\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFadda\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tThe fundamental and second harmonic of the photopic flicker electroretinogram: temporal frequency-dependent abnormalities in retinitis pigmentosa.\n\t\t\t\t\tClin Neurophysiol.\n\t\t\t\t\t1999;\n\t\t\t\t\t110:\n\t\t\t\t\t1554\u20131562.","DOI":"10.1016\/S1388-2457(99)00106-6"},{"key":"i1552-5783-59-10-3827-b31","doi-asserted-by":"crossref","unstructured":"Testa\n\t\t\t\t\t\t\tF,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMelillo\n\t\t\t\t\t\t\tP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBonnet\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tClinical presentation and disease course of Usher Syndrome because of mutations in Myo7a or Ush2a.\n\t\t\t\t\tRetina.\n\t\t\t\t\t2017;\n\t\t\t\t\t37:\n\t\t\t\t\t1581\u20131590.","DOI":"10.1097\/IAE.0000000000001389"},{"key":"i1552-5783-59-10-3827-b32","doi-asserted-by":"crossref","unstructured":"Nagy\n\t\t\t\t\t\t\tD,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSchonfisch\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZrenner\n\t\t\t\t\t\t\tE,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tJagle\n\t\t\t\t\t\t\tH.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tLong-term follow-up of retinitis pigmentosa patients with multifocal electroretinography.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2008;\n\t\t\t\t\t49:\n\t\t\t\t\t4664\u20134671.","DOI":"10.1167\/iovs.07-1360"},{"key":"i1552-5783-59-10-3827-b33","doi-asserted-by":"crossref","unstructured":"Holopigian\n\t\t\t\t\t\t\tK,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGreenstein\n\t\t\t\t\t\t\tV,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSeiple\n\t\t\t\t\t\t\tW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCarr\n\t\t\t\t\t\t\tRE.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tRates of change differ among measures of visual function in patients with retinitis pigmentosa.\n\t\t\t\t\tOphthalmology.\n\t\t\t\t\t1996;\n\t\t\t\t\t103:\n\t\t\t\t\t398\u2013405.","DOI":"10.1016\/S0161-6420(96)30679-9"},{"key":"i1552-5783-59-10-3827-b34","unstructured":"Kolb\n\t\t\t\t\t\t\tH,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGouras\n\t\t\t\t\t\t\tP.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tElectron microscopic observations of human retinitis pigmentosa, dominantly inherited.\n\t\t\t\t\tInvest Ophthalmol.\n\t\t\t\t\t1974;\n\t\t\t\t\t13:\n\t\t\t\t\t487\u2013498."},{"key":"i1552-5783-59-10-3827-b35","unstructured":"Milam\n\t\t\t\t\t\t\tAH,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLi\n\t\t\t\t\t\t\tZY,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFariss\n\t\t\t\t\t\t\tRN.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tHistopathology of the human retina in retinitis pigmentosa.\n\t\t\t\t\tProg Retin Eye Res.\n\t\t\t\t\t1998;\n\t\t\t\t\t17:\n\t\t\t\t\t175\u2013205."},{"key":"i1552-5783-59-10-3827-b36","doi-asserted-by":"crossref","unstructured":"Sandberg\n\t\t\t\t\t\t\tMA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRosner\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tWeigel-DiFranco\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tDisease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2008;\n\t\t\t\t\t49:\n\t\t\t\t\t5532\u20135539.","DOI":"10.1167\/iovs.08-2009"},{"key":"i1552-5783-59-10-3827-b37","doi-asserted-by":"crossref","unstructured":"Birch\n\t\t\t\t\t\t\tDG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAnderson\n\t\t\t\t\t\t\tJL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFish\n\t\t\t\t\t\t\tGE.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tYearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.\n\t\t\t\t\tOphthalmology.\n\t\t\t\t\t1999;\n\t\t\t\t\t106:\n\t\t\t\t\t258\u2013268.","DOI":"10.1016\/S0161-6420(99)90064-7"},{"key":"i1552-5783-59-10-3827-b38","doi-asserted-by":"crossref","unstructured":"Jacobson\n\t\t\t\t\t\t\tSG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRoman\n\t\t\t\t\t\t\tAJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAleman\n\t\t\t\t\t\t\tTS,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tNormal central retinal function and structure preserved in retinitis pigmentosa.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2010;\n\t\t\t\t\t51:\n\t\t\t\t\t1079\u20131085.","DOI":"10.1167\/iovs.09-4372"},{"key":"i1552-5783-59-10-3827-b39","doi-asserted-by":"crossref","unstructured":"Punzo\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tXiong\n\t\t\t\t\t\t\tW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCepko\n\t\t\t\t\t\t\tCL.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tLoss of daylight vision in retinal degeneration: are oxidative stress and metabolic dysregulation to blame?\n\t\t\t\t\tJ Biol Chem.\n\t\t\t\t\t2012;\n\t\t\t\t\t287:\n\t\t\t\t\t1642\u20131648.","DOI":"10.1074\/jbc.R111.304428"},{"key":"i1552-5783-59-10-3827-b40","doi-asserted-by":"crossref","unstructured":"Madreperla\n\t\t\t\t\t\t\tSA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPalmer\n\t\t\t\t\t\t\tRW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMassof\n\t\t\t\t\t\t\tRW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFinkelstein\n\t\t\t\t\t\t\tD.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tVisual acuity loss in retinitis pigmentosa. Relationship to visual field loss.\n\t\t\t\t\tArch Ophthalmol\n\t\t\t\t\t1990;\n\t\t\t\t\t108:\n\t\t\t\t\t358\u2013361.","DOI":"10.1001\/archopht.1990.01070050056030"},{"key":"i1552-5783-59-10-3827-b41","doi-asserted-by":"crossref","unstructured":"Grover\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFishman\n\t\t\t\t\t\t\tGA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAnderson\n\t\t\t\t\t\t\tRJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLindeman\n\t\t\t\t\t\t\tM.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tA longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.\n\t\t\t\t\tOphthalmology.\n\t\t\t\t\t2000;\n\t\t\t\t\t107:\n\t\t\t\t\t386\u2013396.","DOI":"10.1016\/S0161-6420(99)00045-7"},{"key":"i1552-5783-59-10-3827-b42","unstructured":"Massof\n\t\t\t\t\t\t\tRW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDagnelie\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBenzschawel\n\t\t\t\t\t\t\tT,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPalmer\n\t\t\t\t\t\t\tRW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFinkelstein\n\t\t\t\t\t\t\tD.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tFirst-order dynamics of visual field loss in retinitis pigmentosa.\n\t\t\t\t\tClin Vis Sci.\n\t\t\t\t\t1990;\n\t\t\t\t\t5:\n\t\t\t\t\t1\u201326."},{"key":"i1552-5783-59-10-3827-b43","doi-asserted-by":"crossref","unstructured":"Piazza\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFishman\n\t\t\t\t\t\t\tGA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFarber\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDerlacki\n\t\t\t\t\t\t\tD,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAnderson\n\t\t\t\t\t\t\tRJ.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tVisual acuity loss in patients with Usher's syndrome.\n\t\t\t\t\tArch Ophthalmol.\n\t\t\t\t\t1986;\n\t\t\t\t\t104:\n\t\t\t\t\t1336\u20131339.","DOI":"10.1001\/archopht.1986.01050210090031"},{"key":"i1552-5783-59-10-3827-b44","doi-asserted-by":"crossref","unstructured":"Richards\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAziz\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBale\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al;\n\t\t\t\t\t\n\t\t\t\t\tfor the ACMG Laboratory Quality Assurance Committee.\n\t\t\t\t\tStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.\n\t\t\t\t\tGenet Med.\n\t\t\t\t\t2015;\n\t\t\t\t\t17:\n\t\t\t\t\t405\u2013424.","DOI":"10.1038\/gim.2015.30"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/iovs.arvojournals.org\/article.aspx?articleid=2696340","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:30:55Z","timestamp":1791927055000},"score":1,"resource":{"primary":{"URL":"http:\/\/iovs.arvojournals.org\/article.aspx?doi=10.1167\/iovs.17-23703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,1]]},"references-count":44,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2018,8,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.17-23703","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2018,8,1]]}}}