ArticleDocumenta ophthalmologica. Advances in ophthalmology2016
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- A rapid pupillometry protocol for clinical use: effect of age and test-retest repeatability.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- A rapid pupillometry protocol for clinical use: Effect of age and test-retest repeatability.Research square · 2025Article
- Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.Genes · 2023Review
- Cone pathway dysfunction in Jalili syndrome due to a novel familial variant ofOphthalmic genetics · 2022Article
- Interspecies Correlations between Human and MouseJournal of clinical medicine · 2021Article
- Pupillary reflex and behavioral masking responses to light as functional measures of retinal degeneration in mice.PloS one · 2021Article
- Novel Pathogenic Sequence Variants inGenes · 2020Article
- Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy.Translational vision science & technology · 2020Article
- Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis.Investigative ophthalmology & visual science · 2020Article
- Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function.Vision research · 2020Article
- Chromatic Pupillometry Methods for Assessing Photoreceptor Health in Retinal and Optic Nerve Diseases.Frontiers in neurology · 2019Review
- iPhone-based Pupillometry: A Novel Approach for Assessing the Pupillary Light Reflex.Optometry and vision science : official publication of the American Academy of Optometry · 2018Article
- Pupillary responses in non-proliferative diabetic retinopathy.Scientific reports · 2017Article
- Reply: Pupil area and photopigment spectral sensitivity are relevant to study of migraine photophobia.Brain : a journal of neurology · 2017Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThe purpose of this study was to evaluate pupillary light reflexes (PLRs) mediated by rod, cone, and intrinsically photosensitive retinal ganglion cell pathways as indices of outer- and inner-retinal function in patients who have enhanced S-cone syndrome (ESCS) due to NR2E3 mutations.
methodsFour patients with ESCS (ages 16-23 years) participated in the study. Subjects were tested with long- and short-wavelength single-flash full-field ERG stimuli under light-adapted conditions. They were also tested with an established pupillometry protocol involving 1-s duration, long- and short-wavelength stimuli under dark- and light-adapted conditions. The PLR was measured as a function of stimulus luminance. Transient PLRs were measured under all conditions, and sustained PLRs were measured under the highest luminance dark-adapted condition.
resultsTwo-color light-adapted full-field ERGs demonstrated larger amplitude responses for short-wavelength stimuli relative to long-wavelength stimuli of the same photopic luminance, with three of four ESCS patients having super-normal a-wave amplitudes to the short-wavelength stimulus. b/a wave ratios were reduced in all four cases. Transient PLRs elicited by low-luminance stimuli under dark-adapted conditions (rod-mediated) were unrecordable, whereas the sustained PLRs elicited by high-luminance stimuli (melanopsin-mediated) were normal. Cone-mediated PLRs were recordable for all four patients, but generally lower than normal in amplitude. However, the cone-mediated PLR was larger for the short-wavelength stimulus compared to the photopically matched long-wavelength stimulus at high luminances, a pattern that was not observed for control subjects. None of the PLR conditions demonstrated "super-normal" responses.
conclusionESCS patients appear to have generally well-preserved cone- and melanopsin-mediated PLRs, indicating intact inner-retinal function. Two-color pupillometry demonstrates greater sensitivity to short-wavelength light under higher-luminance conditions and could complement the ERG as a tool for evaluating retinal function in ESCS.
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