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Functional and structural retinal alterations in Alzheimer's disease: insights from photopic negative response (PhNR) and OCT-based analysis.
Sener H, Ozer F, Polat OA … +4 more , Ogurlu B, Sonmez HK, Gultekin M, Horozoglu F
Doc Ophthalmol · 2026 Jun · PMID 41781798 · Full text
BACKGROUND: We evaluated retinal function and structure in Alzheimer's disease (AD) using photopic negative response (PhNR) from full-field electroretinography (ERG) and using optical coherence tomography (OCT)-based ret...
BACKGROUND: We evaluated retinal function and structure in Alzheimer's disease (AD) using photopic negative response (PhNR) from full-field electroretinography (ERG) and using optical coherence tomography (OCT)-based retinal layer measurements. METHODS: Ninety eyes from 61 subjects (31 controls, 30 AD patients) were included. Full-field ERGs were recorded using chromatic red-on-blue stimulation (1.7 cd·s/m flashes over an 8 cd/m blue background) in accordance with the ISCEV extended PhNR protocol. The AD group included 16 females and 14 males with moderate cognitive impairment (mean MMSE 15.5 ± 3.9). ERG a-wave, b-wave, and PhNR amplitudes were recorded. Macular and peripapillary retinal nerve fiber layer (RNFL) thicknesses were measured by OCT. RESULTS: A-wave (AD: - 13.4 ± 11.9 µV, control: - 32.5 ± 13.7 µV, p < 0.001), b-wave (AD: 59.1 ± 28 µV, control: 156 ± 48.8 µV, p < 0.001), PhNR (AD: - 21.4 ± 14.9 µV, control: - 51 ± 15.4 µV, p < 0.001) amplitudes were lower in AD. Thicknesses of the central INL (AD: 25 ± 6.6 µm, control: 25.2 ± 8.2 µm, p = 0.04), inferior OPL (AD: 32.7 ± 6.2 µm, control: 36.9 ± 8.9 µm, p = 0.01), and temporal OPL (AD: 29.3 ± 5.2 µm, control: 34.8 ± 7.0 µm, p = 0.001) were reduced in AD, while other retinal layers showed no significant differences between groups (p > 0.05). The b-wave amplitude showed the highest discriminative power with an AUC of 0.956, followed by the PhNR amplitude (AUC = 0.930) and the a-wave amplitude (AUC = 0.904). CONCLUSION: AD was associated with a generalized reduction in full-field ERG amplitudes, accompanied by selective retinal layer changes on OCT. Among electrophysiological measures, b-wave amplitude demonstrated the highest ability to distinguish AD patients from controls.
The area under the waveform as an alternative measure of the photopic negative response.
Tzekov R, Kremers J, Safari S
Doc Ophthalmol · 2026 Jun · PMID 41764691 · Publisher ↗
PURPOSE: To explore how the photopic negative response (PhNR), measured as an area defined by the ERG waveform can be used as complementary or an alternative measure to the traditionally measured PhNR amplitude. METHODS:...
PURPOSE: To explore how the photopic negative response (PhNR), measured as an area defined by the ERG waveform can be used as complementary or an alternative measure to the traditionally measured PhNR amplitude. METHODS: A retrospective chart review and data analysis of light-adapted 3.0 ERG records in patients and normal subjects patients aged 18 and older undergoing routine ERG testing was conducted. A new measure was analyzed: area defined by the PhNR curve. It was obtained in two ways: as an area under the ERG waveform (AUW) and an area above the ERG waveform (AAW) with starting points defined by the b-wave peak and time windows ranging from 5 to 45 ms in duration. A linear regression was conducted between PhNR1 amplitude (trough before i-wave), PhNR2 amplitude (trough after i-wave), PhNR AUW, and PhNR AAW. Furthermore, a prediction analysis based on AUW/AAW was conducted where the strongest correlated measures were used to predict the PhNR2 amplitude. RESULTS: The ERG recordings of 70 patients/135 eyes (52F/18 M, average age: 49.2 ± 15.3 years) and six healthy subjects (1F/5 M, age between 22 and 58) were included in this study. 26 patients had well-defined PhNR2 troughs and were used for prediction analysis. There was good correlation between PhNR1 and PhNR2 amplitudes (r 0.9755-0.9759 when amplitude was measured from the b-wave peak and 0.7265-0.6413, when amplitude was measured from baseline). The best predictors for PhNR2 amplitude were areas of 35 ms duration: AAW starting 30 ms after b-wave peak and AUW starting at 35 ms after the peak, when amplitude was measured from b-wave peak or baseline, respectively. Similar results were obtained by conducting similar prediction analysis on a small number of healthy volunteers. CONCLUSIONS: Determining and using AAW/AUW for PhNR2 prediction could be a valuable method in cases where the PhNR2 peak is not well defined.
Monitoring outcomes of the first human whole eye allotransplant.
Dedania VS, Shah AR, Chinta SR … +5 more , Tran DL, Brodie SE, Gelb BE, Ceradini DJ, Rodriguez ED
Doc Ophthalmol · 2026 Apr · PMID 41764690 · Publisher ↗
PURPOSE: To describe the first successful whole eye transplantation (WET) in a human, performed with concurrent partial face transplantation, and to characterize postoperative outcomes. DESIGN: Case report. PARTICIPANT:...
PURPOSE: To describe the first successful whole eye transplantation (WET) in a human, performed with concurrent partial face transplantation, and to characterize postoperative outcomes. DESIGN: Case report. PARTICIPANT: A 46-year-old male with severe facial and ocular deficits following high-voltage electrical injury, including left eye enucleation and extensive soft tissue and aesthetic deformities. METHODS: Comprehensive preoperative evaluation, precise microsurgical techniques including vascular anastomosis and optic nerve coaptation, and serial postoperative assessments with optical coherence tomography (OCT), fluorescein angiography (FA), electroretinography (ERG), and visual evoked potentials (VEP). MAIN OUTCOME MEASURES: Sustained globe viability, vascular perfusion, retinal structural integrity, and electrophysiological function. RESULTS: The transplanted globe demonstrated robust vascular perfusion and structural preservation over 12 months. Outer retinal function was maintained, as indicated by ERG, despite retinal nerve fiber layer loss and optic nerve transection. VEP confirmed absence of visual perception. The procedure achieved substantial aesthetic restoration. CONCLUSIONS: This study establishes the feasibility of WET in humans, with sustained globe viability and preserved outer retinal function. These findings serve as a critical step toward future exploration of ocular transplantation.
ISCEV extended protocol for the photoreceptor directed ERG using full-field silent substitution stimuli.
Kremers J, Barboni MTS, Zele AJ … +7 more , Feigl B, McAnany JJ, Robson AG, Nagy BV, Parry N, Mahroo OA, Huchzermeyer C
Doc Ophthalmol · 2026 Apr · PMID 41723788 · Full text
The International Society for Clinical Electrophysiology of Vision (ISCEV) Standard for full-field electroretinography (ERG) describes a minimum procedure, but encourages more extensive testing. This ISCEV extended proto...
The International Society for Clinical Electrophysiology of Vision (ISCEV) Standard for full-field electroretinography (ERG) describes a minimum procedure, but encourages more extensive testing. This ISCEV extended protocol describes an extension to the full-field ERG Standard, namely the ERG responses to silent substitution stimuli that are directed at the response modulation of single photoreceptor types. The method can be used to detect selective defects in distinct photoreceptor types and post-receptoral retinal pathways. This document, based on existing literature, provides protocols for recording and analyzing the responses to a single class of photoreceptor directed stimuli. For each photoreceptor type (rods, L-, M- and S-cones), optimal luminance conditions and temporal frequencies for Ganzfeld recordings are provided. The exact stimulus conditions depend on the spectral properties of the stimulator. An accompanying technical report describes an app that is meant to provide support in calculating stimuli for individual stimulators.
Functional and structural outcomes in paediatric myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD): a prospective study.
Gericke FC, Hanson JVM, Hackenberg A … +1 more , Gerth-Kahlert C
Doc Ophthalmol · 2026 Apr · PMID 41708951 · Publisher ↗
PURPOSE: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune disease affecting the central nervous system, frequently manifesting with optic neuritis (ON). Despite often favourabl...
PURPOSE: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune disease affecting the central nervous system, frequently manifesting with optic neuritis (ON). Despite often favourable functional visual recovery, structural retinal changes may persist. This prospective study assessed the utility of functional and structural visual outcome measures in paediatric MOGAD. METHODS: Children with serologically confirmed MOGAD were recruited from across Switzerland, alongside age-matched healthy controls. All participants underwent pattern-reversal visual evoked potentials (VEP; 15' and 60' check sizes), spectral-domain optical coherence tomography (OCT), high- and low-contrast distance visual acuity (VA), near VA, and colour vision testing. VEP outcomes were P100 peak times, and OCT outcomes were peripapillary retinal nerve fibre layer (pRNFL) thickness (global, temporal, nasal, and papillomacular bundle (PMB)), macular volume, and central retinal thickness. Discriminative performance was assessed using receiver operating characteristic (ROC) analysis. RESULTS: Twelve paediatric MOGAD patients (10.9 ± 3.1 years) and twelve age-matched controls (11.5 ± 2.8 years) were included. VEP P100 peak times were generally comparable between patients and controls. pRNFL thickness appeared lower in patients than controls. ROC analysis showed excellent to outstanding discrimination for global, PMB, temporal, and nasal pRNFL sectors, both overall and in ON+ and ON- subgroups. VEP P100 peak times exhibited fair or poor discrimination overall, however 15' check sizes showed excellent discrimination between ON+ and control eyes. CONCLUSIONS: In our cohort, OCT-derived pRNFL thickness differentiated MOGAD from controls with high accuracy, including in eyes without prior ON. VEPs showed limited utility, supporting OCT as a more sensitive marker of subclinical structural involvement.
Keeping kids engaged: the effects of superimposed single-line cartoons on pattern reversal VEPs.
Talsma HE, Hoeben FP, van Genderen MM … +1 more , de Wit GC
Doc Ophthalmol · 2026 Apr · PMID 41708950 · Full text
PURPOSE: Recording reliable pattern-reversal VEPs (prVEPs) in children is challenging due to limited attention. Superimposing dynamic cartoons may enhance engagement, but their effects on the prVEP are unclear. METHODS:...
PURPOSE: Recording reliable pattern-reversal VEPs (prVEPs) in children is challenging due to limited attention. Superimposing dynamic cartoons may enhance engagement, but their effects on the prVEP are unclear. METHODS: Fifteen healthy adults underwent prVEP testing under three conditions: (F) fixation on a central target (standard condition); (C) free viewing of a single-line cartoon superimposed onto the checkerboard pattern; and (M) a mixed condition, in which participants maintained fixation on the central target while the overlaid cartoon played. Eye movements were tracked to verify stable gaze in conditions F and M and to record gaze positions and velocities during condition C. P100 amplitude and peak time were analyzed for check sizes of 60' and 15'. RESULTS: Under condition (C) (free viewing), P100 was significantly reduced to 74% of that observed during F (standard fixation) at 60' (***p = 0.001) and to 82% at 15' (**p = 0.004), along with a reduction in peak time (60': - 2.4 ms, ***p < 0.001; 15': - 3.1 ms, **p = 0.009). The M condition (mixed condition, fixation with the cartoon) produced minor, mostly non-significant changes in amplitude (60': 88%, p = 0.076; 15': 96%, p = 0.383) and peak time (60': - 1.7 ms, *p = 0.045; 15': 1.1 ms, p = 0.056). Eye tracking confirmed that 90% (C) to 96% (F and M) of reversals occurred during stable gaze. In condition (C), gaze was on average directed approximately 2° below the central position used for fixation in the other conditions. CONCLUSIONS: The effect of cartoon overlays on the P100 component of adult prVEPs is small, albeit statistically significant. The effects likely reflect subtle influences of attention and adaptation rather than eye movements. These findings support the use of a single-line cartoon in pediatric testing to enhance engagement and response reliability without compromising clinical interpretation.
Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.
Barboni M, Jávorszky E, Quinodoz M … +6 more , Han JH, Resch M, Nagy ZZ, Rivolta C, Tory K, Szabó V
Doc Ophthalmol · 2026 Feb · PMID 41691573 · Publisher ↗
PURPOSE: A hallmark of the IMPDH1-related rod-cone dystrophy is the highly variable expressivity. Disease onset, severity and progression are variant-dependent due to specific affected photoreceptor mechanisms, underscor...
PURPOSE: A hallmark of the IMPDH1-related rod-cone dystrophy is the highly variable expressivity. Disease onset, severity and progression are variant-dependent due to specific affected photoreceptor mechanisms, underscoring the importance of genotype-phenotype correlations. We provide a detailed clinical characterization of a patient with rod-cone dystrophy caused by a rare de novo missense IMPDH1 variant. CASE DESCRIPTION: A 33-year-old female patient was assessed over a period of four years following the onset of her symptoms. A multimodal evaluation of both structural and functional aspects, along with molecular analysis, was performed. We identified a rare de novo missense variant in the IMPDH1 gene (NM_000883.4:c.730A > C, p.Thr244Pro), which had been previously reported in one patient. Threonine 244 is located at the interface between the catalytic domain and the regulatory Bateman domain. This region is crucial for GDP/GTP nucleotide binding and mediates feedback regulation, putatively influencing allosteric regulation. The SD-OCT imaging revealed a symmetrically preserved ellipsoid zone in the central retina, alongside noticeable neuroretinal layer loss beyond the temporal vascular arcades. Functional examinations showed normal BCVA, microperimetric macular thresholds, and color vision thresholds in both eyes. Multifocal ERG was slightly reduced, and full-field ERGs were affected in both dark- and light-adapted responses, consistent with the peripheral sensitivity loss in the 80° automated visual field. No significant changes were observed throughout the follow-up period. CONCLUSIONS: The IMPDH1 p.Thr244Pro variant was associated with preserved central retina structure and function with stable peripheral dysfunction in the fourth decade of life, suggesting a relatively stationary disease course that starkly contrasts the rapid progression of retinal dystrophies caused by other IMPDH1 variants.
The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.
Padhy SK, Constable PA
Doc Ophthalmol · 2026 Apr · PMID 41629643 · Full text
PURPOSE: The clinical electrooculogram (EOG) is used for the diagnosis of bestrophinopathies to evaluate the function of the retinal pigment epithelium. The current ISCEV test protocol uses a broad band white light with...
PURPOSE: The clinical electrooculogram (EOG) is used for the diagnosis of bestrophinopathies to evaluate the function of the retinal pigment epithelium. The current ISCEV test protocol uses a broad band white light with luminance of 100 cd/m. An alternative monochromatic 448 nm short wavelength (SW-EOG) has been proposed but to date has not been evaluated in clinical cases where the standard EOG is abnormal. METHODS: To evaluate the clinical potential of the SW-EOG four genetically confirmed cases of Best Vitelliform Macular Dystrophy were tested using the standard white (100 cd/m) and SW-EOG (448 nm) at 30 cd/m to ascertain if the SW-EOG was also affected. In addition, a qualitative 5-point Likert survey was conducted to gauge overall patient comfort. RESULTS: In all four cases the SW-EOG was reduced and provided an equivalent clinical measure for RPE dysfunction. All four participants rated the SW-EOG as being more comfortable than the white standard EOG test. CONCLUSIONS: This is the first demonstration of an alternative stimulus for the EOG that provided clinically valid results with greater comfort than the current ISCEV protocol. Further studies are required to validate the SW-EOG as an alternative to the white broad band stimulus.
Electroretinography (ERG) alterations following positional changes in gas-filled eyes after a vitrectomy.
Ichinohe H, Yamabe Y, Fujibayashi S … +5 more , Imura E, Odagiri Y, Narumi T, Okado S, Ueno S
Doc Ophthalmol · 2026 Apr · PMID 41627599 · Publisher ↗
BACKGROUND: Recording electroretinograms (ERGs) in eyes with intraocular gas tamponade is difficult, and the mechanism remains unclear. We evaluated the effect of intraocular gas on ERGs by comparing recordings at differ...
BACKGROUND: Recording electroretinograms (ERGs) in eyes with intraocular gas tamponade is difficult, and the mechanism remains unclear. We evaluated the effect of intraocular gas on ERGs by comparing recordings at different body positions. METHODS: This study included 31 patients who underwent vitrectomy with sulfur hexafluoride (SF6) or air tamponade at Hirosaki University (between May 2023 and October 2024). The patients included those with retinal detachment (25 patients), macular holes (4 patients), and epiretinal membranes (2 patients). ERGs were recorded using skin electrodes when approximately 50% of the vitreous cavity was filled with the intraocular gas. ERGs were recorded in sitting, supine, and face-down positions. Amplitudes and latencies of the LA 3 b-wave and LA 30 Hz were compared using the Wilcoxon signed-rank and Friedman tests. RESULTS: In the gas-filled eyes, amplitudes in the face-down position were smaller, and latencies were longer than those in the other positions (p < 0.05). Median amplitudes in the gas-filled eyes in the sitting, supine, and face-down positions were 20.4, 19.5, and 10.1 µV for LA 3 and 14.4, 15.5, and 7.11 for LA 30 Hz, respectively; median latencies were 32.5, 33.0, and 34.3 ms for LA 3 and 30.8, 30.0, and 34.3 for LA 30 Hz, respectively. CONCLUSIONS: ERG amplitudes were reduced and latencies were prolonged in the face-down position, which may be attributed to a larger retinal area being covered by intraocular gas. The gas acts as an insulator, and the gas-covered retina may not effectively generate or transmit electrical signals.
Full-field electroretinogram (ffERG) over 48 months correlates with baseline retinal dysfunction in Vogt-Koyanagi-Harada disease: a longitudinal study.
Souto FMS, Missaka RFBG, Lavezzo MM … +4 more , Sakata VM, Oyamada MK, Yamamoto JH, Brazilian Vogt-Koyanagi-Harada disease Study Group
Doc Ophthalmol · 2026 Apr · PMID 41612097 · Full text
OBJECTIVE: To evaluate full-field electroretinogram (ffERG) parameters and evaluate their clinical associations in patients with acute Vogt-Koyanagi-Harada (VKH) disease over a 4-year follow-up. METHODS AND ANALYSIS: Thi...
OBJECTIVE: To evaluate full-field electroretinogram (ffERG) parameters and evaluate their clinical associations in patients with acute Vogt-Koyanagi-Harada (VKH) disease over a 4-year follow-up. METHODS AND ANALYSIS: This retrospective cohort study included 21 patients with acute VKH disease followed for 48 months after initiation of systemic corticosteroid therapy, with or without adjunctive immunosuppression. ffERG was performed at 1, 6, 12, and 48 months (M) post-treatment. At M48, eyes were classified into two groups: Group 1 (normal ffERG) and Group 2 (subnormal ffERG), based on whether any ffERG parameters fell below the 5th percentile of age-matched healthy controls. Main outcomes included longitudinal ffERG changes, clinical associations, and the 6-month recovery ratios relative to baseline (M1). RESULTS: All ffERG parameters improved significantly from baseline to M6 (p < 0.001) and to M12 (p < 0.001) and stabilized thereafter. Group 2 exhibited consistently reduced ffERG amplitudes compared to Group 1 throughout follow-up (p < 0.01 to p < 0.001), despite similar recovery trends. Recovery ratios at M6 ranged from 27%-78% in Group 1 and 26%-175% in Group 2; however, Group 2 remained below normal levels at M48. Sunset glow fundus (SGF) at M12 was significantly more frequent in Group 2 (60.7%) than in Group 1 (21.4%, p = 0.025). CONCLUSIONS: Retinal function improved during the first year and stabilized thereafter, irrespective of treatment type. Persistent subnormal ffERG at 48 months reflected a poorer baseline function and was associated with the development of SGF.
Rhegmatogenous retinal detachment in gyrate atrophy: a case report and review of literature.
Fong N, Lee YM, Agrawal S … +2 more , Durkin S, Franzco
Doc Ophthalmol · 2026 Feb · PMID 41575622 · Publisher ↗
PURPOSE: We present a rare case of a 25-year-old Polish male diagnosed with rhegmatogenous retinal detachment (RRD) on a background of gyrate atrophy (GA), successfully treated with pars plana vitrectomy (PPV) combined w...
PURPOSE: We present a rare case of a 25-year-old Polish male diagnosed with rhegmatogenous retinal detachment (RRD) on a background of gyrate atrophy (GA), successfully treated with pars plana vitrectomy (PPV) combined with cryotherapy and perfluoropropane (C3F8) gas tamponade. METHODS: Regular ophthalmic examinations with optical coherence tomography were performed preoperatively and three months postoperatively. RESULTS: The patient initially presented with acute loss of vision to counting fingers in the left eye secondary to a macula-off RRD. Intraoperatively, multiple circumferential skirts of vitreous bands and a peripheral break at 11 o'clock were identified. The break was treated with cryotherapy and C3F8 gas tamponade. The patient underwent left-sided cataract surgery six months following his vitrectomy and subsequently a YAG laser posterior capsulotomy. The retina remained attached at his 9-month follow up with a final best-corrected visual acuity of 6/9-1. CONCLUSIONS: PPV with cryotherapy and perfluoropropane tamponade can be an effective surgical approach in the management of RRD with underlying GA. Compared to previously reported cases, a favourable visual outcome was achieved in our case, likely attributed to the absence of other ophthalmic complications (such as proliferative vitreoretinopathy) and timely surgical intervention. Recognising atypical vitreous characteristics intraoperatively may refine surgical techniques and outcomes in similar cases. Future cases could consider an encircling scleral band for additional support, particularly in cases involving inferior retinal breaks.
Retained cone-responses in homozygous start codon variant in KIZ-associated retinitis pigmentosa.
Kong MD, O'Connell M, Exinor A … +3 more , Soucy M, Brodie SE, Tsang SH
Doc Ophthalmol · 2026 Jun · PMID 41557064 · Publisher ↗
PURPOSE: To report the clinical phenotype, imaging characteristics, and electrophysiologic findings of a 62-year-old patient with retinitis pigmentosa (RP) harboring a likely pathogenic homozygous KIZ (NM_018474.6) start...
PURPOSE: To report the clinical phenotype, imaging characteristics, and electrophysiologic findings of a 62-year-old patient with retinitis pigmentosa (RP) harboring a likely pathogenic homozygous KIZ (NM_018474.6) start codon variant (c.3G > A, p.Met1?), only previously reported in the compound heterozygous state. METHODS: The patient underwent clinical evaluation including full medical history, best-corrected visual acuity (BCVA), slit lamp exam, and dilated fundus examination (DFE), spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), and full-field electroretinography (ffERG), following the ISCEV standard protocols. Genetic testing was performed using the Invitae inherited retinal disorders panel of 330 genes. RESULTS: BCVA was 20/40 in both eyes. Fundus examination revealed mild optic disc pallor, arteriolar attenuation, peripheral pigment migration, and macular hyper-autofluorescence along the arcades. with macular sparing. Outside the arcades, there are hypo-autofluorescence spots corresponding to retinal pigement epithelium atrophy. There is marked peri-papillary atrophy. SD-OCT showed diffuse outer retinal thinning, ellipsoid zone constriction, mild cystoid macular edema, and epiretinal membrane. ffERG was consistent with a rod-cone dystrophy, with extinguished dark-adapted responses and severely attenuated 30 Hz flicker amplitudes. Genetic testing identified a heterozygous variant of uncertain significance in CTNNA1 (c.1486C > T, p.Arg496Cys) and a homozygous KIZ variant (c.3G > A, p.Met1?), previously observed only in compound heterozygosity. The patient was diagnosed with KIZ-associated RP and initiated on topical dorzolamide. CONCLUSIONS: This case expands the clinical spectrum of KIZ-associated RP by describing the phenotype associated with a homozygous start codon variant. Despite the disruptive nature of the mutation, the patient exhibited a relatively mild rod-cone dystrophy with retained cone responses into the seventh decade. These findings support the inclusion of KIZ in diagnostic panels for autosomal recessive RP and contribute valuable genotype-phenotype correlation data for this rare ciliopathy.
Difference in pupillary response to red and blue color stimuli between glaucoma and Leber hereditary optic neuropathy patients with comparable central visual dysfunction.
Iwaki Y, Ueda K, Mori S … +4 more , Sakamoto M, Yamada-Nakanishi Y, Kondo M, Nakamura M
Doc Ophthalmol · 2026 Jan · PMID 41553591 · Publisher ↗
PURPOSE: To compare pupillary responses during two-color light stimulation and the post-illumination pupillary response (PIPR) between patients with Leber hereditary optic neuropathy (LHON) and established optic atrophy...
PURPOSE: To compare pupillary responses during two-color light stimulation and the post-illumination pupillary response (PIPR) between patients with Leber hereditary optic neuropathy (LHON) and established optic atrophy and patients with primary open-angle glaucoma (POAG) who have central visual dysfunction with similar magnitude to that of the LHON patients. METHODS: Fourteen normal controls, eight patients with POAG and mean deviation of the Humphrey visual field and circumpapillary retinal nerve fiber layer and ganglion cell/inner plexiform layer thickness measured using optical coherence tomography being comparable to those of LHON patients, and nine patients with LHON were included. Using a handheld electronic pupillometer, pupil diameter of the eye contralateral to the stimulation was recorded during a 7 s baseline period, a 10 s red light stimulation followed by a 40-s post-stimulation period, and a 10 s blue light stimulation followed by a 40 s post-stimulation period. RESULTS: The ratio of pupil diameter at 6 s after blue, but not red, light offset as well as the subtraction of difference between the baseline pupil diameter and the mean pupil diameter during the 30 s post-illumination using red stimulus from the counterpart using blue stimulus was significantly larger in POAG patients than in the other two groups. The maintenance of pupillary constriction during blue light stimulation was significantly reduced in POAG patients compared with the other two groups. CONCLUSIONS: Compared with POAG patients who had comparable macular structural and functional damage, LHON patients showed better pupillary responses during blue light stimulation and PIPR, reflecting preserved ipRGC function.
Technical note: contour plot visualization of the light adapted electroretinogram using a generalized additive model.
Brabec M, Loh L, Lee IO … +4 more , Marmolejo-Ramos F, Skuse DH, Thompson DA, Constable PA
Doc Ophthalmol · 2026 Feb · PMID 41548173 · Full text
PURPOSE: To describe a new method to visualize the amplitude profile of light adapted ERGs as a series of contour plots in response to a Flash Strength series. METHODS: Light adapted ERGs from a dataset of n = 88 Autism...
PURPOSE: To describe a new method to visualize the amplitude profile of light adapted ERGs as a series of contour plots in response to a Flash Strength series. METHODS: Light adapted ERGs from a dataset of n = 88 Autism Spectrum Disorder (ASD) and n = 70 typically developing Control participants were used incorporating 10 flash strengths ranging from 12 to 446 Troland seconds (Td.s). The region chosen for analysis included the baseline, a-wave and ascending limb of the b-wave and included n = 1736 control and n = 1300 ASD waveforms. A Generalized Additive Model (GAM) with complexity penalized tensor product splines was applied to the waveform intervals. RESULTS: Contour plots derived from the ASD and Control groups revealed a pattern of reduced amplitude in the ascending limb of the b-wave for the ASD group. Representative responses were derived from the GAM model for discrete Flash Strengths to exemplify the changing profile of the ERG waveform. A contour plot of the derived z-scores provided a qualitative evaluation of the differences in the mean amplitudes which was concentrated on the b-wave. CONCLUSIONS: The production of contour plots based on amplitude, time and Flash Strength with minimal a priori assumptions provide an additional approach to analyzing stimulus response data series and may support clinical applications. Additionally, the GAM-based methodology provides a tool for simultaneous investigation of the amplitude changes over time and Flash Strength which can be useful for theoretical purposes.
Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.
Yao F, Li Y, Wei X … +5 more , Zhang W, Zhou Y, Liu Y, Zou X, Sui R
Doc Ophthalmol · 2026 Jan · PMID 41530594 · Publisher ↗
PURPOSE: To report a case of α-mannosidosis with intellectual, hearing impairment and progressive retinal degeneration, supported by ten years of ophthalmic follow-up, genetic testing, and leukocyte α-mannosidase enzymat...
PURPOSE: To report a case of α-mannosidosis with intellectual, hearing impairment and progressive retinal degeneration, supported by ten years of ophthalmic follow-up, genetic testing, and leukocyte α-mannosidase enzymatic analysis. METHODS: The patient underwent serial ophthalmic examinations over a ten-year period, including best-corrected visual acuity (BCVA) testing, fundus photography, optical coherence tomography (OCT), and fundus autofluorescence (FAF), to monitor disease progression. Trio-based whole-exome sequencing (WES) was performed on the family. Variant confirmation was conducted via Sanger sequencing. To support the genetic findings, leukocyte α-mannosidase activity was measured using fresh peripheral blood samples. RESULTS: At first presentation, BCVA was 20/50 OD and 20/40 OS. Over the next decade, vision progressively declined to 20/200 in both eyes. Fundus images showed granular pigment mottling in the posterior pole, and subsequent wide-angle imaging detected bone-spicule pigmentation deposits in peripheral retina. OCT demonstrated progressive retinal thinning, with loss of the ellipsoid zone. FAF revealed expanding areas of retinal atrophy. The patient has presented with bilateral sensorineural hearing loss, delayed speech development, persistent dysarthria, mild cognitive impairment, and coarse facial features since childhood. Genetic analysis identified a novel homozygous MAN2B1 mutation: c.1316_1327delinsTGATG (p.Ala439Valfs*36), inherited from consanguineous parents with the same heterozygous genotypes. The variant was classified as pathogenic based on ACMG criteria. The patient's leukocyte α-mannosidase activity was profoundly decreased, confirming the diagnosis. CONCLUSIONS: This case highlights the progressive nature of retinal degeneration in α-mannosidosis and underscores the diagnostic value of leukocyte enzyme testing alongside genetic and ophthalmic assessments. Early recognition of ophthalmic signs, particularly in patients with syndromic features such as hearing loss and facial dysmorphism, is essential for timely diagnosis and intervention.
Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant.
Roberti G, Calabrese A, Valiante M … +3 more , Formicola D, Lolli C, De Negri AM
Doc Ophthalmol · 2026 Feb · PMID 41528649 · Publisher ↗
PURPOSE: We report the clinical history of two siblings, initially diagnosed with juvenile glaucoma (JG), who were subsequently found to harbor a novel pathogenic OPA1 splicing variant consistent with dominant optic atro...
PURPOSE: We report the clinical history of two siblings, initially diagnosed with juvenile glaucoma (JG), who were subsequently found to harbor a novel pathogenic OPA1 splicing variant consistent with dominant optic atrophy (DOA). METHODS AND RESULTS: The male proband presented with elevated intraocular pressure (IOP) at age 11, while his sister had normal IOP values at age 16. Both developed bilateral temporal optic nerve pallor, central visual field defects, and reduced color vision. Optical coherence tomography (OCT) confirmed thinning of the retinal nerve fiber and ganglion cell layers. Whole exome sequencing identified a novel splice-site variant in OPA1 (NM_130837.3:c.611-2A>T) in both siblings and their affected mother, classified as pathogenic according to ACMG/AMP guidelines. During treatment washout, the male proband showed elevated IOP, consistent with concomitant JG and DOA, whereas the sister exhibited DOA only. CONCLUSIONS: This report highlights the importance of considering DOA in young patients with presumed JG, and suggests potential overlapping pathophysiology involving mitochondrial dysfunction and retinal ganglion cells vulnerability.
Homozygous initiation codon-altering complex variant causes rapid-onset chorioretinopathy phenotype in ABCA4 disease.
Sbaiti N, Kong MD, Bailey JA … +2 more , Exinor A, Tsang SH
Doc Ophthalmol · 2026 Jan · PMID 41526563 · Publisher ↗
PURPOSE: To characterize the clinical phenotype associated with a homozygous start codon-altering complex variant in the ABCA4 gene and evaluate its severity and prognosis in the context of Stargardt disease. METHODS: Pa...
PURPOSE: To characterize the clinical phenotype associated with a homozygous start codon-altering complex variant in the ABCA4 gene and evaluate its severity and prognosis in the context of Stargardt disease. METHODS: Patient records were retrospectively reviewed for homozygous ABCA4 start codon variants. Patients underwent ophthalmic exam, multimodal imaging, full-field electroretinography (ffERG), and inherited retinal disease panel testing. Structural and functional retinal assessments were reviewed to determine phenotype severity. RESULTS: Three brothers of Ashkenazi Jewish descent presented with profound early-onset vision loss beginning at age 7, with best-corrected visual acuity reduced to counting fingers or hand motion by early adulthood. Imaging revealed widespread macular atrophy, extensive intraretinal pigment migration, and near-complete foveal outer nuclear layer loss. ffERG demonstrated extinguished scotopic and photopic responses. The patients were found to be homozygous for a complex ABCA4 allele containing the start codon variant c.[1A > G;6089G > A]. These features were consistent with the rapid-onset chorioretinopathy phenotype, previously associated with null ABCA4 alleles. CONCLUSIONS: This report characterizes the clinical findings in patients homozygous for the c.[1A > G;6089G > A] variant in ABCA4, confirming its association with a severe, rapid-onset chorioretinopathy phenotype. The data support the pathogenic nature of this complex allele and expands the genotype-phenotype correlational spectrum of ABCA4-related disease, with implications for prognosis and genetic counseling.
Retinal electrophysiological responses to dopaminergic therapy in treatment naïve Parkinson's disease.
Ergun Yildiz M, Sener H, Gultekin M … +3 more , Sonmez HK, Polat OA, Horozoglu F
Doc Ophthalmol · 2026 Apr · PMID 41495563 · Publisher ↗
PURPOSE: Parkinson's disease (PD) is a progressive neurodegenerative disorder in which the retina acts as a dopaminergic extension of the central nervous system. This study aimed to evaluate the effects of dopaminergic t...
PURPOSE: Parkinson's disease (PD) is a progressive neurodegenerative disorder in which the retina acts as a dopaminergic extension of the central nervous system. This study aimed to evaluate the effects of dopaminergic therapy on retinal electrophysiological responses in newly diagnosed, treatment-naïve PD patients and to compare these findings with those of healthy controls. METHODS: Forty eyes from 20 PD patients underwent full-field electroretinography (ffERG). Photopic a-wave, b-wave, and photopic negative response (PhNR) wave amplitudes and implicit times were recorded before and after one month of dopaminergic therapy. For comparison, one randomly selected eye from each of 20 age- and sex-matched healthy control subjects also underwent the same ffERG protocol. RESULTS: Following dopaminergic treatment, a-wave (- 6.6 ± 1.4 µV, p < 0.001), b-wave (20.0 ± 4.8 µV, p = 0.001), and PhNR wave amplitudes (- 7.9 ± 1.8 µV, p < 0.001) significantly increased. Pre-treatment, a-wave (- 8.9 ± 3.5 µV, p = 0.014), b-wave (38.3 ± 9.8 µV, p < 0.001), and PhNR-wave (- 17.6 ± 2.8 µV, p < 0.001) amplitudes were significantly lower in the PD group compared with controls. Post-treatment, a- and b-wave amplitudes became comparable to those of the control group (p > 0.05), while PhNR-wave amplitude remained significantly reduced (- 9.7 ± 4.1 µV, p = 0.023). CONCLUSION: Dopaminergic therapy significantly improved retinal electrophysiological responses in treatment-naïve PD patients. After treatment, the a- and b-wave amplitudes approached control levels, whereas the PhNR amplitude remained significantly reduced. These findings suggest that retinal dopaminergic dysfunction in PD may be partially reversible, and ffERG parameters can serve as sensitive biomarkers for monitoring treatment response.
High-altitude retinopathy with isolated ellipsoid zone loss: a case report.
Bailey JA, Kong MD, Hou B … +3 more , Exinor A, Bao C, Tsang SH
Doc Ophthalmol · 2026 Feb · PMID 41491338 · Publisher ↗
PURPOSE: To describe a case of High-altitude retinopathy (HAR) and associated imaging and multimodal assessment. METHODS: The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multi...
PURPOSE: To describe a case of High-altitude retinopathy (HAR) and associated imaging and multimodal assessment. METHODS: The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multimodal imaging protocol that included color fundus photography, fundus autofluorescence (FAF), and spectral-domain optical coherence tomography (OCT). Functional assessments were conducted using full-field electroretinography (ERG), following the ISCEV standard protocols to ensure consistent and reproducible measurements of photoreceptor activity. RESULTS: A 44-year-old woman with stable RP and previously remitted cystoid macular edema presented with acute bilateral blurry and distorted vision after climbing Mt. Kilimanjaro. OCT revealed new bilateral foveal EZ loss with preserved peripheral retina. OCT-A demonstrated intact retinal and choroidal perfusion, excluding ischemic injury. Dilated fundus examination (DFE) and autofluorescence were unchanged from baseline. Methazolamide was discontinued, and N-acetylcysteine (1800 mg BID) was initiated. At 3-month follow-up, visual acuity improved, and OCT showed partial EZ recovery, consistent with a metabolic or hypoxic insult. CONCLUSIONS: This case highlights a previously undescribed manifestation of HAR: isolated central photoreceptor damage without vascular involvement presenting as EZ line loss. The findings suggest that the high metabolic demand of foveal cones may predispose to hypoxia-induced injury, especially in patients with pre-existing retinal degeneration. Ophthalmologists should consider non-vascular mechanisms of high-altitude retinal injury, particularly in individuals with underlying retinal disease.
Bilateral non-hereditary foveomacular and peripheral retinoschisis in a young female with electrophysiological abnormalities.
Raj P, Parameswarappa DC, Poornachandra B … +3 more , Sridhar R, Subashchandra HD, Yadav NK
Doc Ophthalmol · 2026 Jan · PMID 41483445 · Publisher ↗
PURPOSE: To report a case of non-hereditary bilateral foveomacular and peripheral retinoschisis in a young female, with electrophysiological abnormalities in the absence of high myopia. METHODS: A 25-year-old female with...
PURPOSE: To report a case of non-hereditary bilateral foveomacular and peripheral retinoschisis in a young female, with electrophysiological abnormalities in the absence of high myopia. METHODS: A 25-year-old female with recent-onset diminution of vision in the left eye (LE) underwent comprehensive ophthalmic evaluation including best-corrected visual acuity (BCVA), slit lamp biomicroscopy, indirect ophthalmoscopy, optical coherence tomography (OCT), full field electroretinography (ERG) and genetic evaluation. RESULTS: BCVA at presentation was 6/6, N6 in the right eye(RE) and 6/9, N8 in the LE. The patient had a prior history of laser refractive surgery for moderate myopia. Anterior segment examination was unremarkable. Fundus evaluation revealed bilateral foveoschisis and peripheral retinal schisis. OCT showed retinoschisis predominantly involving outer plexiform and outer nuclear layer, along with mild vitreoschisis. Foveal detachment was noted in the LE. ERG demonstrated rod and cone system dysfunction, severe rod bipolar cell dysfunction in both eyes, and a borderline electronegative waveform in the LE. There was no family history, and clinical exome sequencing did not reveal any pathogenic variants associated with the phenotype. CONCLUSION: Electrophysiological abnormalities with bipolar cell dysfunction, similar to those seen in hereditary retinoschisis, can also occur in non-hereditary retinoschisis. Genetic evaluation is recommended to differentiate between the two, as ERG may show abnormalities in both.
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