{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:36:15Z","timestamp":1786649775630,"version":"build-2736575974"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T00:00:00Z","timestamp":1774483200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>The purpose of this report is to characterize the effects of eye muscle surgery on children with achromatopsia and infantile nystagmus syndrome (INS) who have had no previous surgery.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>This is a prospective, single-center, interventional case series analysis of 17 patients\u2019 clinical and electrophyisological data before and after eye muscle surgery.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Outcome measures included: demographic and clinical characteristics, binocular best-corrected visual acuity (BCVA), strabismic deviation (SD), anomalous head posture (AHP), contrast sensitivity function (CSF), and the expanded nystagmus acuity function (NAFX). Postoperative data were collected between 6 and 9 months after surgery and statistical analysis perfomed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The age at surgery ranged from 19 months to 12 years (~7.2 years), 53% were male, and 23% were other than Caucasians. Follow-up ranged 9 months -10 years (~ 4.3 years). Nine patients had strabismus. All had a significant refractive error, and 7 patients had amblyopia. Sixteen had abnormal SD-OCT dysmorphology. All had the unique INS waveform of dual-jerk. In 13 patients, a molecular diagnosis was obtained. A surgical algorithm involving at least 2 recti muscles on each eye was perfomed on every patient. There were no surgical complications with a reoperation rate of 12%. Along with unique unexpected improvements in blepharospasm and photophobia, there were improvements in AHP, SD, BCVA, CSF, and the NAFX.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Achromatopsia has unique associations of a vertical AHP and dual-jerk INS waveforms. In spite of their associated retinal disease, patients with achromatopsia show improvements in many afferent and efferent measures of ocular motor and visual functions after eye muscle surgery for nystagmus.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijo.ijo_1977_25","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T10:00:20Z","timestamp":1774519220000},"page":"499-507","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Achromatopsia and infantile nystagmus syndrome (INS): Outcome after eye muscle surgery"],"prefix":"10.4103","volume":"74","author":[{"given":"Richard W","family":"Hertle","sequence":"first","affiliation":[{"name":"Akron Children\u2019s Hospital Vision Center and The Rebecca D. Considine Research Institute, Akron Children\u2019s Hospital, Akron, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Boydstun","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital Vision Center and The Rebecca D. Considine Research Institute, Akron Children\u2019s Hospital, Akron, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Hanna","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital Vision Center and The Rebecca D. Considine Research Institute, Akron Children\u2019s Hospital, Akron, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,3,26]]},"reference":[{"key":"R1-20260416","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1167\/iovs.66.4.39","article-title":"Clinical spectrum and molecular characteristics of inherited ocular diseases in a cohort of pediatric patients with infantile nystagmus syndrome","volume":"66","author":"Gong","year":"2025","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R2-20260416","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1055\/a-2176-4233","article-title":"Analysis of suspected achromatopsia by multimodal diagnostic testing","volume":"240","author":"Kugler","year":"2023","journal-title":"Klin Monbl Augenheilkd"},{"key":"R3-20260416","doi-asserted-by":"crossref","first-page":"690","DOI":"10.3390\/genes14030690","article-title":"Genetic and clinical characterization of Danish achromatopsia patients","volume":"14","author":"Andersen","year":"2023","journal-title":"Genes (Basel)"},{"key":"R4-20260416","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/978-1-4614-3209-8_70","article-title":"Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications","volume":"801","author":"McClintock","year":"2014","journal-title":"Adv Exp Med Biol"},{"key":"R5-20260416","doi-asserted-by":"crossref","first-page":"1836","DOI":"10.1097\/IAE.0000000000004170","article-title":"Genetic etiology and clinical features of achromatopsia in Japan","volume":"44","author":"Inooka","year":"2024","journal-title":"Retina"},{"key":"R6-20260416","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1100\/tsw.2006.248","article-title":"The diagnosis and treatment of infantile nystagmus syndrome (INS)","volume":"6","author":"Khanna","year":"2006","journal-title":"ScientificWorldJournal"},{"key":"R7-20260416","doi-asserted-by":"crossref","first-page":"5201","DOI":"10.1167\/iovs.09-3486","article-title":"The prevalence of nystagmus: The Leicestershire nystagmus survey","volume":"50","author":"Sarvananthan","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R8-20260416","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1067\/mpa.2002.126491","article-title":"A next step in naming and classification of eye movement disorders and strabismus","volume":"6","author":"Hertle","year":"2002","journal-title":"J AAPOS"},{"key":"R9-20260416","doi-asserted-by":"crossref","first-page":"48","DOI":"10.3368\/aoj.60.1.48","article-title":"Nystagmus in infancy and childhood: Characteristics and evidence for treatment","volume":"60","author":"Hertle","year":"2010","journal-title":"Am Orthopt J"},{"key":"R10-20260416","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1080\/08820530802505955","article-title":"Nystagmus in infancy and childhood","volume":"23","author":"Hertle","year":"2008","journal-title":"Semin Ophthalmol"},{"key":"R11-20260416","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/S1091-8531(99)70073-X","article-title":"Clinical and ocular motor analysis of congenital nystagmus in infancy","volume":"3","author":"Hertle","year":"1999","journal-title":"J AAPOS"},{"key":"R12-20260416","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00578761","article-title":"Congenital nystagmus waveforms and foveation strategy","volume":"39","author":"Dell\u2019Osso","year":"1975","journal-title":"Doc Ophthalmol"},{"issue":"Suppl 2","key":"R13-20260416","doi-asserted-by":"crossref","first-page":"S542","DOI":"10.1007\/s00415-014-7385-9","article-title":"Central ocular motor disorders, including gaze palsy and nystagmus","volume":"261","author":"Strupp","year":"2014","journal-title":"J Neurol"},{"key":"R14-20260416","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S1091-8531(97)90002-1","article-title":"Costenbader Lecture. Idiopathic infantile nystagmus: Diagnosis and treatment","volume":"1","author":"Reinecke","year":"1997","journal-title":"J AAPOS"},{"key":"R15-20260416","doi-asserted-by":"crossref","first-page":"85","DOI":"10.3928\/01913913-20171117-01","article-title":"Diagnosis and treatment options for achromatopsia: A review of the literature","volume":"55","author":"Pascual-Camps","year":"2018","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"R16-20260416","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1016\/j.ophtha.2019.01.015","article-title":"Three-year observation of children 3 to 10 years of age with untreated intermittent exotropia","volume":"126","author":"Mohney","year":"2019","journal-title":"Ophthalmology"},{"key":"R17-20260416","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1016\/j.ajo.2007.02.028","article-title":"Clinical contrast sensitivity testing in patients with infantile nystagmus syndrome compared with age-matched controls","volume":"143","author":"Hertle","year":"2007","journal-title":"Am J Ophthalmol"},{"key":"R18-20260416","first-page":"351","article-title":"Congenital, latent and manifest latent nystagmus--similarities, differences and relation to strabismus","volume":"29","author":"Dell\u2019Osso","year":"1985","journal-title":"Jpn J Ophthalmol"},{"key":"R19-20260416","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.visres.2009.05.019","article-title":"Extending the eXpanded Nystagmus Acuity Function for vertical and multiplanar data","volume":"50","author":"Jacobs","year":"2010","journal-title":"Vision Res"},{"key":"R20-20260416","doi-asserted-by":"crossref","first-page":"4685","DOI":"10.1167\/iovs.09-3387","article-title":"Using the NAFX to measure the effectiveness over time of gene therapy in canine LCA","volume":"50","author":"Jacobs","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R21-20260416","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards 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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"R22-20260416","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1001\/jamaophthalmol.2017.4859","article-title":"Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome","volume":"135","author":"Rim","year":"2017","journal-title":"JAMA Ophthalmol"},{"key":"R23-20260416","first-page":"152","article-title":"Achromatopsia and congenital nystagmus","volume":"3","author":"Dell\u2019Osso","year":"1983","journal-title":"J Clin Neuroophthalmol"},{"key":"R24-20260416","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1080\/2576117X.2022.2064190","article-title":"A story of discovery and change: What we learned from studying nystagmus in infancy and childhood","volume":"72","author":"Hertle","year":"2022","journal-title":"J Binocul Vis Ocul Motil"},{"key":"R25-20260416","doi-asserted-by":"crossref","first-page":"93","DOI":"10.3928\/01913913-20210105-01","article-title":"Clinical and electrophysiological outcomes after eye muscle surgery in 81 adults with infantile nystagmus syndrome","volume":"58","author":"Hertle","year":"2021","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"R26-20260416","first-page":"37","article-title":"Surgery for the treatment of vertical head posturing associated with infantile nystagmus syndrome: Results in 24 patients","volume":"39","author":"Hertle","year":"2011","journal-title":"Clin Experiment Ophthalmol"},{"key":"R27-20260416","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1097\/WNO.0b013e3182236427","article-title":"Effects of topical brinzolamide on infantile nystagmus syndrome waveforms: Eyedrops for nystagmus","volume":"31","author":"Dell\u2019osso","year":"2011","journal-title":"J Neuroophthalmol"},{"key":"R28-20260416","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1016\/j.ophtha.2014.03.007","article-title":"A randomized controlled trial comparing soft contact lens and rigid gas-permeable lens wearing in infantile nystagmus","volume":"121","author":"Jayaramachandran","year":"2014","journal-title":"Ophthalmology"},{"key":"R29-20260416","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1080\/09273972.2019.1707237","article-title":"Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease","volume":"28","author":"Wang","year":"2020","journal-title":"Strabismus"},{"key":"R30-20260416","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1023\/A:1015299930849","article-title":"An expanded nystagmus acuity function: Intra- and intersubject prediction of best-corrected visual acuity","volume":"104","author":"Dell\u2019Osso","year":"2002","journal-title":"Doc Ophthalmol"},{"key":"R31-20260416","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.jaapos.2004.08.005","article-title":"Horizontal rectus muscle tenotomy in children with infantile nystagmus syndrome: A pilot study","volume":"8","author":"Hertle","year":"2004","journal-title":"J AAPOS"},{"key":"R32-20260416","doi-asserted-by":"crossref","first-page":"2865","DOI":"10.1167\/iovs.05-1233","article-title":"Eye movement recordings as an effectiveness indicator of gene therapy in RPE65-deficient canines: Implications for the ocular motor system","volume":"47","author":"Jacobs","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R33-20260416","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1136\/bjo.2010.184432","article-title":"A new algorithm for automated nystagmus acuity function analysis","volume":"95","author":"Tai","year":"2011","journal-title":"Br J Ophthalmol"},{"key":"R34-20260416","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1016\/j.ophtha.2012.05.047","article-title":"Recommendations for genetic testing of inherited eye diseases: Report of the American Academy of Ophthalmology task force on genetic testing","volume":"119","author":"Stone","year":"2012","journal-title":"Ophthalmology"},{"key":"R35-20260416","doi-asserted-by":"crossref","first-page":"9739","DOI":"10.3390\/ijms25179739","article-title":"Gene therapy for achromatopsia","volume":"25","author":"Baxter","year":"2024","journal-title":"Int J Mol Sci"},{"key":"R36-20260416","doi-asserted-by":"crossref","first-page":"333","DOI":"10.3129\/i10-077","article-title":"Current approaches and future prospects for stem cell rescue and regeneration of the retina and optic nerve","volume":"45","author":"Dahlmann-Noor","year":"2010","journal-title":"Can J Ophthalmol"}],"container-title":["Indian Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/IJO.IJO_1977_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T18:58:16Z","timestamp":1786647496000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/IJO.IJO_1977_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,26]]},"references-count":36,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/ijo.ijo_1977_25","relation":{},"ISSN":["0301-4738","1998-3689"],"issn-type":[{"value":"0301-4738","type":"print"},{"value":"1998-3689","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,26]]},"assertion":[{"value":"2024-08-07","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-10","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}