ArticleIndian journal of ophthalmology2026
Achromatopsia and infantile nystagmus syndrome (INS): Outcome after eye muscle surgery.
Article in Indian journal of ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeThe 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.
designThis is a prospective, single-center, interventional case series analysis of 17 patients' clinical and electrophyisological data before and after eye muscle surgery.
methodsOutcome 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.
resultsThe 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.
conclusionsAchromatopsia 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.
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