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Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by silencing of the\n                      <jats:italic>FMR1<\/jats:italic>\n                      gene and loss of fragile X messenger ribonucleoprotein (FMRP), leading to synaptic dysfunction and prominent sensory processing abnormalities. This study evaluated whether ERG waveform differences are detectable in FXS using a handheld RETeval\n                      <jats:sup>\u00ae<\/jats:sup>\n                      protocol while accounting for key technical and physiological determinants of signal variability.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      ERG recordings were obtained during routine clinic visits using the RETeval\n                      <jats:sup>\u00ae<\/jats:sup>\n                      system in 24 males with genetically confirmed FXS [aged (mean\u2009\u00b1\u2009SD) 28\u2009\u00b1\u200910 years; 19 full mutation, 5 mosaic] and 19 neurotypical male controls [aged (mean\u2009\u00b1\u2009SD) 26\u2009\u00b1\u20092 years]. Outcomes included flash and flicker ERG parameters (a- and b-wave amplitudes and time-to-peak; flicker amplitude and time-to-peak). Feasibility was assessed using ERG waveform acquisition and success rates.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Individuals with FXS demonstrated reduced flash b-wave amplitude (\u03b2 = \u22126.84 \u00b5V; 95% CI [\u2212\u200912.87 - \u22120.81];\n                      <jats:italic>p<\/jats:italic>\n                      =.026) and prolonged time-to-peak for flash a-wave (\u03b2\u2009=\u20091.79 ms; 95% CI [0.32\u20133.26];\n                      <jats:italic>p<\/jats:italic>\n                      =.017), flash b-wave (\u03b2\u2009=\u20091.10 ms; 95% CI [0.19\u20132.02];\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.018), and flicker responses (\u03b2\u2009=\u20091.68 ms; 95% CI [0.49\u20132.88];\n                      <jats:italic>p<\/jats:italic>\n                      =.006). Flash a-wave amplitude and flicker amplitude were not significantly different from controls. ERG feasibility was substantially reduced in FXS: participant-level flash acquisition and success were 67% and 46% in FXS versus 100% and 100% in controls, respectively (\n                      <jats:italic>p<\/jats:italic>\n                      =.0066 and\n                      <jats:italic>p<\/jats:italic>\n                      =.0001). Participant-level flicker acquisition and success were 46% and 38% in FXS versus 95% and 95% in controls (\n                      <jats:italic>p<\/jats:italic>\n                      =.0003 and\n                      <jats:italic>p<\/jats:italic>\n                      =.0001). No significant laterality effects were observed for waveform parameters or feasibility.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Handheld, light-adapted ERG detected reproducible abnormalities in retinal function in FXS, consistently in reduced flash b-wave amplitude and delayed response timings, supporting altered post-photoreceptor processing as a physiological feature of FXS. Low acquisition and success rates in a routine outpatient clinic workflow indicate feasibility constraints, supporting use of ERG as a context-dependent biomarker for mechanistic studies and interventional trials.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s11689-026-09684-2","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T03:35:34Z","timestamp":1774582534000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Electroretinography biomarkers indicate disrupted visual processing in Fragile X syndrome"],"prefix":"10.1186","volume":"18","author":[{"given":"Qianyi","family":"Pu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tejas C.","family":"Sekhar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary T.","family":"Stanley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Berry-Kravis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,27]]},"reference":[{"key":"9684_CR1","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1146\/ANNUREV.GENOM.8.080706.092249","volume":"8","author":"O Penagarikano","year":"2007","unstructured":"Penagarikano O, Mulle JG, Warren ST. 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