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Effects of short-term moderate versus high intraocular pressure elevation on flicker-induced changes in full-field electroretinogram.
Rai M, Yang X, Choi KY … +2 more , Tan S, Chan HH
Doc Ophthalmol · 2026 Jul · PMID 42400689 · Publisher ↗
PURPOSE: Transient flickering light stimulation (FLS) enhances the electrical activity in the middle retinal layer (MRL) of wild-type mice. This study investigates how short-term moderate and high intraocular pressure (I...
PURPOSE: Transient flickering light stimulation (FLS) enhances the electrical activity in the middle retinal layer (MRL) of wild-type mice. This study investigates how short-term moderate and high intraocular pressure (IOP) elevation influences flicker-induced enhancement in the retinal activity using full-field electroretinograms (ffERG). METHODS: Baseline blood pressure (BP), IOP, mean ocular perfusion pressure (OPP), and ffERG were measured before and after FLS in eighteen C57BL/6 J mice. The mice were subsequently divided into two groups: ocular hypertension (OHT, n = 9) and control (n = 9). In the OHT group, IOP was firstly transiently elevated to ~ 35 mm Hg for 5 min (termed as Loop on Phase-1 (LOP-1)) using an adjustable vascular loop in one randomly chosen eye, while the control group had the loop placed without IOP elevation. IOP was further elevated to ~ 65 mm Hg in the same eye for another 5 min (termed as Loop on Phase-2 (LOP-2)) in the OHT group, while the control group had the loop placed in the same eye without IOP increase. The BP, IOP, mean OPP and ffERG measurements were repeated before and after FLS in each condition. RESULTS: While BP showed no significant differences, mean OPP was significantly reduced at LOP-1 and LOP-2 in the OHT group compared to both baseline (p < 0.001) and to the control group (p < 0.001). The b-wave amplitudes recorded after FLS were significantly higher than those before FLS at baseline and LOP-1 conditions in both control (p < 0.01) and OHT groups (p < 0.001). In the LOP-2 condition, the OHT group showed no significant difference (p > 0.05) between pre- and post-FLS b-wave amplitudes, while the control group exhibited a significant increase (p < 0.001). The percentage change in b-wave amplitude was significantly reduced in the OHT group at LOP-2 condition (Pre-Loop vs LOP-2: p < 0.01; LOP-1 versus LOP-2: p < 0.001), while the control group maintained a consistent percentage increase in b-wave amplitudes. No such significant changes were found in other parameters of ffERG response after FLS. CONCLUSIONS: Short-term high IOP elevation (~ 65 mm Hg), but not moderate (~ 35 mm Hg), disrupted flicker-induced enhancement of MRL electrical activity. This implies that the retina can adapt to a short period of moderate IOP, sustaining a normal increase in the retinal electrical activity in response to FLS. However, even a short period of high IOP would cause certain physiological damage to the retina.
The relationship between foveal anatomy and retinal function in oculocutaneous albinism.
Balakrishnan U, Wynne N, Pfeifer W … +3 more , Woertz E, Carroll J, Drack AV
Doc Ophthalmol · 2026 Jul · PMID 42397659 · Publisher ↗
PURPOSE: To examine the relationship between multifocal ERG (mfERG) topography and peak cone density measured with adaptive optics scanning light ophthalmoscopy (AOSLO) in persons with albinism (PWA). METHODS: We obtaine...
PURPOSE: To examine the relationship between multifocal ERG (mfERG) topography and peak cone density measured with adaptive optics scanning light ophthalmoscopy (AOSLO) in persons with albinism (PWA). METHODS: We obtained best corrected visual acuity (BCVA), mfERG, retinal imaging with AOSLO, and optical coherence tomography (OCT) data in seven PWA and one control. The relationship between central peak cone density, mfERG amplitude topography, and foveal hypoplasia (FH) grade was calculated using Spearman rank correlation. Parafoveal cone densities among a subset of PWA were compared to a previously reported control group. RESULTS: All PWA had variably below average peak cone density, decreased BCVA, flattened mfERG topography, and FH. Higher peak cone density significantly correlated with higher peripheral mfERG amplitudes (r = 0.73, p = 0.0049), but not central (r = 0.25), and did not correlate with steeper (more normal) mfERG topography (r = 0.031). Parafoveal cone densities did not greatly differ outside of the central 2° (within Ring 1) between PWA and those of previously reported controls. CONCLUSIONS: The association of increased foveal cone packing with elevated peripheral, but not central mfERG amplitudes, suggests aberrant post-receptoral circuitry in the macula. The presence of excess connections between cone photoreceptors and bipolar cells, similar to the unrefined circuitry seen in fetal retinae, may underly the electrical dysfunction seen in these PWA, and explain why, even with milder FH and denser cone packing, normal visual acuity is often not achieved.
Early onset primary angle closure and foveal retinoschisis associated with a pseudo-homozygous CRB1 pathogenic variant.
Qiao Y, Tan C, Wen Y … +3 more , Sun X, Wu J, Chen J
Doc Ophthalmol · 2026 Jul · PMID 42390706 · Publisher ↗
PURPOSE: We describe a case of a 4-year-old Chinese girl who presented with elevated intraocular pressure (IOP), and foveal retinoschisis (FRS) in both eyes, which was later diagnosed as CRB1-associated retinopathy. METH...
PURPOSE: We describe a case of a 4-year-old Chinese girl who presented with elevated intraocular pressure (IOP), and foveal retinoschisis (FRS) in both eyes, which was later diagnosed as CRB1-associated retinopathy. METHODS AND RESULTS: Ultrasound biomicroscopy demonstrated shallow anterior chamber, angle closure, anterior insertion of iris and anteriorly positioned ciliary body. The patient received laser peripheral iridotomy and topical medications for ocular hypertension and macular oedema. Longitudinal follow-up over 2 years revealed improved visual acuity, and effective IOP control. However, the FRS continued to progress. Genetic screening confirmed a novel copy number loss and a pseudo-homozygous c.4207G > C (p.Glu1403Gln) variant of the CRB1 gene. CONCLUSIONS: This case underscores the importance of comprehensive ophthalmologic examination and genetic testing in young patients with primary angle closure. In addition, the patient's hemizygous state for the CRB1 gene provides a unique opportunity to establish a genotype-phenotype association between the c.4207G > C (p.Glu1403Gln) variant and maculopathy as well as elevated IOP.
Bilateral perifoveal macular ischemia in non-proliferative Duchenne muscular dystrophy-associated retinopathy: a case report.
Sato RH, Barboni M, Sakuno G … +5 more , Brasil A, Dias SL, Zanoteli E, Ventura DF, Zacharias LC
Doc Ophthalmol · 2026 Jun · PMID 42373939 · Publisher ↗
PURPOSE: To describe the first reported case of non-proliferative Duchenne muscular dystrophy-associated retinopathy manifested as bilateral perifoveal ischemia. METHODS: This observational case report details a 21-year-...
PURPOSE: To describe the first reported case of non-proliferative Duchenne muscular dystrophy-associated retinopathy manifested as bilateral perifoveal ischemia. METHODS: This observational case report details a 21-year-old male with genetically confirmed Duchenne muscular dystrophy (DMD) who presented with bilateral visual decline. A comprehensive ophthalmic evaluation was performed including best-correct visual acuity (BCVA) assessment, slit-lamp biomicroscopy, dilated fundus examination, full-field and multifocal electroretinography (ERG) in accordance with ISCEV standards and ERGs to sawtooth modulation, structural spectral-domain optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in both eyes. RESULTS: BCVA was 20/40 in both eyes. Anterior segment examination revealed bilateral posterior subcapsular cataracts, while dilated fundoscopic examination was unremarkable. Multifocal ERG demonstrated reduced amplitudes in the central and parafoveal rings, indicating localized retinal dysfunction. OCTA disclosed bilateral, irregular enlargement of the foveal avascular zone consistent with perifoveal ischemia. These vascular abnormalities corresponded to the areas of inner retinal thinning with secondary outer nuclear layer expansion in structural OCT. CONCLUSION: DMD-associated retinopathy may present with retinal ischemia in the absence of overt fundoscopic abnormalities. Multimodal structural and functional modalities including multifocal ERG, OCT and OCTA may be critical to the early detection of subclinical ischemic changes and for identifying patients at risk of progression to proliferative retinopathy.
Association between dynamic pupil parameters and corneal sub-basal nerve plexus morphology.
Zhou W, Zhang Z, Yu H … +5 more , Li J, Li R, Yao Z, He X, Feng Y
Doc Ophthalmol · 2026 Jun · PMID 42364067 · Publisher ↗
PURPOSE: To evaluate the association between dynamic pupillometry parameters and in vivo confocal microscopy (IVCM)-derived corneal sub-basal nerve morphology in patients with immune-related dry eye disease. METHODS: A c...
PURPOSE: To evaluate the association between dynamic pupillometry parameters and in vivo confocal microscopy (IVCM)-derived corneal sub-basal nerve morphology in patients with immune-related dry eye disease. METHODS: A cross-sectional study was conducted on 28 patients with immune-related dry eye disease (DED). Corneal sub-basal nerve morphology, including corneal nerve fiber length density (CNFL), intensity, and tortuosity, was quantified using IVCM. Dynamic pupillary light reflexes, including pupil size diameter and constriction/dilation velocities, were measured via automated pupillometry. Correlation and multivariate regression analysis were employed to determine the independent associations between structural nerve metrics and functional pupillary parameters. RESULTS: Significant positive correlations were observed between CNFL and baseline pupil size, recovery pupil size, and total contraction and dilation time. Multivariate regression confirmed that CNFL remained an independent predictor of baseline pupil diameter after adjusting for age and gender. CONCLUSION: Structural rarefaction of the corneal sub-basal nerves is closely mirrored by functional impairments in pupillary dynamics. Dynamic pupillometry may provide complementary functional information associated with corneal nerve alterations in patients with immune-related DED.
Structure-function relationship between handheld photopic negative response and macular GCIPL thickness in chronic optic neuropathy.
Seo Y, Surl D, Han J
Doc Ophthalmol · 2026 Jun · PMID 42340564 · Publisher ↗
PURPOSE: To determine whether photopic negative response (PhNR) parameters obtained using a handheld electroretinography (ERG) device reflect quantitative indicators of residual retinal ganglion cell (RGC)-driven inner r...
PURPOSE: To determine whether photopic negative response (PhNR) parameters obtained using a handheld electroretinography (ERG) device reflect quantitative indicators of residual retinal ganglion cell (RGC)-driven inner retinal function and how these functional measures relate to OCT-derived structural metrics in chronic unilateral non-glaucomatous optic neuropathy (ON). METHODS: In this retrospective observational study, 27 patients (54 eyes) with unilateral chronic ON were examined using handheld full-field photopic ERG (RETeval™, LKC Technologies) without pupil dilation or corneal electrodes. Several ERG parameters, including the PhNR72 amplitude, PhNR minimum amplitude, P-ratio, and W-ratio, were analyzed. Optical coherence tomography (OCT)-derived ganglion cell-inner plexiform layer (GCIPL) and retinal nerve fiber layer (RNFL) thicknesses, and Humphrey field analyzer (HFA) indices were acquired on the same day. Linear mixed-effects models accounting for intereye correlation and false discovery rate (FDR) correction were used to assess structure-function relationships. RESULTS: ON eyes showed significantly reduced PhNR72 and PhNR minimum amplitudes, and lower P-ratio (PhNR72/b-wave) and W-ratio (PhNR minimum/(b-wave minus a-wave) (all p < 0.01) compared with unaffected eyesof the patients. In multivariable models, the W-ratio was independently associated with GCIPL thickness in the inferotemporal sector (β = 0.45; 95% CI, 0.22-0.68; FDR-adjusted p < 0.05), whereas no significant associations were found with RNFL thickness or HFA indices. CONCLUSIONS: Handheld photopic ERG-derived PhNR parameters, particularly the W-ratio, are selectively associated with GCIPL thickness, suggesting preferential coupling with RGC-driven inner retinal function rather than axonal or field-level measures. Thus, portable ERG provides a practical functional biomarker complementary to OCT for evaluating residual RGC-driven inner retinal function in chronic ON.
Clinical course of a patient with PRSS56-associated nanophthalmos (isolated microphthalmia) and uveal effusion syndrome.
Taguchi Y, Kuniyoshi K, Mizobuchi K … +5 more , Iwahashi C, Sakamoto M, Mano F, Hayashi T, Kusaka S
Doc Ophthalmol · 2026 Jun · PMID 42321572 · Publisher ↗
PURPOSE: To describe the detailed clinical course and genetic findings of a Japanese patient with nanophthalmos (isolated microphthalmia) who developed bilateral uveal effusion syndrome (UES). CASE REPORT: A 50-year-old...
PURPOSE: To describe the detailed clinical course and genetic findings of a Japanese patient with nanophthalmos (isolated microphthalmia) who developed bilateral uveal effusion syndrome (UES). CASE REPORT: A 50-year-old Japanese man presented with distorted and decreased vision in his right eye. Ophthalmoscopy revealed non-rhegmatogenous retinal detachment with shifting subretinal fluid. The horizontal corneal diameter was 11.5 mm in both eyes, while the axial lengths were 15.6 and 15.3 mm in the right and left eyes, respectively, confirming the diagnosis of nanophthalmos (microphthalmia)-associated UES. After steroid pulse therapy followed by sclerectomy with vortex vein decompression (S-VVD), the UES resolved 10 months postoperatively. The eyes remained stable for 15 years, after which the patient developed bilateral cataracts and elevated intraocular pressure. Cataract surgery was done uneventfully, but signs of UES appeared in the left eye five days postoperatively. This was controlled with multiple treatments, including steroid pulse therapy, intravitreal anti VEGF injection, and oral carbonic anhydrase inhibitor. However, UES recurred after five months. S-VVD and vitrectomy with silicone oil tamponade were performed, and the UES resolved after one year postoperatively. Ultimately, electroretinography (ERG) became non-recordable, and the visual fields were constricted in both eyes. Whole-exome sequencing identified a previously unreported homozygous nonsense variant in PRSS56 (c.202C>T, p.Arg68Ter), classified as pathogenic based on the ACMG criteria. CONCLUSIONS: This report describes a patient with an unreported pathogenic PRSS56 variant who exhibited a typical and severe course of nanophthalmos (isolated microphthalmia) complicated by bilateral UES. Although the effusions eventually resolved after multiple interventions, the prolonged UES was challenging to manage and resulted in irreversible retinal dysfunction with a non-recordable ERG.
Congenital grouped albinotic spots of the retinal pigment epithelium-a case report.
Ratra D, Damle D
Doc Ophthalmol · 2026 Jun · PMID 42321571 · Publisher ↗
PURPOSE: To describe the clinical and multimodal imaging characteristics of congenital grouped albinotic spots (CGAS) and to explore their functional implications using full-field electroretinography (ERG). METHODS: Two...
PURPOSE: To describe the clinical and multimodal imaging characteristics of congenital grouped albinotic spots (CGAS) and to explore their functional implications using full-field electroretinography (ERG). METHODS: Two patients with incidentally detected CGAS underwent comprehensive ophthalmic examination, including best-corrected visual acuity, refraction, dilated fundus evaluation, swept-source optical coherence tomography (SSOCT), fundus autofluorescence (FAF) imaging, and full-field ERG. Longitudinal follow-up was available for one case over 7 years. Clinical and imaging findings were qualitatively compared with previously reported CGAS features and with differential diagnoses of flecked retina disorders. RESULTS: Both patients demonstrated numerous, bilaterally symmetrical, flat hypopigmented lesions that were small and round at the posterior pole, sparing the fovea and larger, linear, and radially oriented in the periphery. FAF showed striking hyperautofluorescence corresponding to the hypopigmented patches. SSOCT in both cases showed preserved foveal contour, normal retinal architecture, and intact RPE-photoreceptor complex. Visual acuity was 20/20 in both patients at last examination, after refractive correction. ERG responses were largely within normal reference limits, although each case exhibited minimally reduced photopic responses. CONCLUSIONS: CGAS represents a benign, nonprogressive RPE abnormality with characteristic peripheral hypopigmented spots that are paradoxically hyperautofluorescent on FAF and associated with preserved retinal structure and good visual function. FAF and OCT are valuable, non-invasive tools for confirming the diagnosis, delineating lesion extent, and distinguishing CGAS from inherited flecked-retina dystrophies. Additional case series and genetic studies are warranted to clarify underlying mechanisms and potential associations.
Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt.
Elghonemy A, Issa MY, Shoala TS … +3 more , Metwally H, Abdel-Hamid MS, Abdallah MG
Doc Ophthalmol · 2026 Jun · PMID 42313326 · Publisher ↗
BACKGROUND: Pathogenic variants in the RPE65 gene cause various forms of inherited retinal dystrophies (IRD), which include Leber congenital amaurosis (LCA), early childhood-onset retinal dystrophy (ECORD), and various f...
BACKGROUND: Pathogenic variants in the RPE65 gene cause various forms of inherited retinal dystrophies (IRD), which include Leber congenital amaurosis (LCA), early childhood-onset retinal dystrophy (ECORD), and various forms of retinitis pigmentosa (RP). To date, no study has characterised the heterogeneity of RPE65 variants associated with IRD in the Egyptian population. This study aimed to identify RPE65 pathogenic variants in a cohort of Egyptian children with IRD, with implications for gene therapy eligibility. METHODS: A total of 44 patients in the paediatric age group (from birth to 18 years old), from 27 unrelated Egyptian families with non-syndromic IRD, underwent detailed ophthalmic examination, which include electroretinogram (ERG), optical coherence tomography (OCT), and fundus autofluorescence (FAF), and their DNA samples were screened for RPE65 variants using Sanger sequencing. RESULTS: Among the 44 patients studied, 8 (18.2%) harboured disease-causing pathogenic or likely pathogenic biallelic variants in the RPE65 gene. Of these, 47.7% were male and 52.3% female; in all affected individuals, symptom onset preceded the fourth birthday. Four distinct missense variants were identified: three classified as likely pathogenic and one as pathogenic. One variant (p.Phe472Ser) was novel, with no prior reports in the literature or public databases. Affected patients demonstrated visual impairment within the first decade of life. RPE65 variants were mainly associated with nystagmus and markedly reduced rod and cone function on ERG. There was bilateral thinning of outer retinal layers outside the fovea with the disruption of the ellipsoid Zzone (EZ) and retinal pigment epithelium (RPE) layers by OCT, as well as diminished normal fluorescence in fundus autofluorescence testing in patients harbouring disease-causing RPE65 genetic variants. CONCLUSION: RPE65 gene variants account for 18.2% of this selected paediatric IRD cohort and represent an important genetic cause of LCA and ECORD in the Egyptian population. Expanded access to gene therapy trials is critically needed for eligible patients.
Serous Maculopathy due to Aspecific Choroidopathy (SMACH): a case report with differential diagnosis based on multimodal imaging analysis.
Ren X, Yu X, Huang S … +3 more , Qi X, Wang S, Sun Y
Doc Ophthalmol · 2026 Jun · PMID 42295499 · Publisher ↗
BACKGROUND: Serous Maculopathy Due to Aspecific Choroidopathy (SMACH) is a rare chorioretinal disease characterized by polymorphic, non-pigmented choroidal lesions, with or without subretinal fluid (SRF). Its clinical ma...
BACKGROUND: Serous Maculopathy Due to Aspecific Choroidopathy (SMACH) is a rare chorioretinal disease characterized by polymorphic, non-pigmented choroidal lesions, with or without subretinal fluid (SRF). Its clinical manifestations overlap with common conditions such as central serous chorioretinopathy (CSC) and age-related macular degeneration (AMD), leading to a high risk of misdiagnosis, particularly in elderly patients. Multimodal imaging, including optical coherence tomography (OCT), OCT angiography (OCTA), fluorescein fundus angiography (FFA), and indocyanine green angiography (ICGA), is critical for accurate diagnosis. CASE PRESENTATION: A 76-year-old Asian female presented with a 6-month history of blurred vision in her left eye. Ophthalmic examination revealed multiple yellowish-white subretinal lesions with mild elevation in the posterior pole of the left eye. OCT and OCTA demonstrated hyperreflective fibrinous exudates between the retinal pigment epithelium (RPE) and Bruch's membrane, choroidal thickening, and outer retinal damage. Fluorescein fundus angiography (FFA) and indocyanine green angiography (ICGA) provided complementary findings consistent with choroidal dysfunction and blood-retinal barrier disruption. Systemic evaluations, including laboratory tests for rheumatological immune indicators, tuberculin test, syphilis serology, and imaging examinations, excluded other systemic diseases. Based on these multimodal imaging findings and exclusion of alternative diagnoses, the patient was diagnosed with SMACH. CONCLUSIONS: This case report describes a typical presentation of SMACH in an elderly patient, emphasizing that multimodal imaging, as demonstrated in this case, can help identify characteristic features of SMACH (choroidal thickening, hyperreflective exudates), though its diagnostic reliability in larger populations requires further validation.The exclusion of systemic diseases and differentiation from similar chorioretinal disorders (e.g., CSC, AMD) are crucial for accurate diagnosis.This case adds to the existing limited data on SMACH in elderly populations and further supports the role of multimodal imaging in improving diagnostic accuracy to reduce misdiagnosis.
Improvement of dynamic pupillary function after cataract surgery in eyes with pseudoexfoliation syndrome: a six-month longitudinal pupillometry study.
Alacamlı G, Ozer O, Kasıkcı M
Doc Ophthalmol · 2026 Jun · PMID 42286324 · Publisher ↗
PURPOSE: Impaired pupillary dynamics are a well-recognized feature of pseudoexfoliation syndrome (PXF), yet little is known about how cataract surgery influences postoperative iris function in these eyes. This study aime...
PURPOSE: Impaired pupillary dynamics are a well-recognized feature of pseudoexfoliation syndrome (PXF), yet little is known about how cataract surgery influences postoperative iris function in these eyes. This study aimed to determine the longitudinal effects of cataract surgery on static pupil diameters and dilation velocity in eyes with pseudoexfoliation syndrome compared with age-matched controls. METHODS: This longitudinal study included 166 eyes of 166 patients undergoing cataract surgery, comprising 91 eyes with pseudoexfoliation syndrome and 75 control eyes without pseudoexfoliation. Pupillary parameters were measured preoperatively and at six months postoperatively using automated pupillometry. Static pupil diameters were assessed under scotopic (0.04 lx), mesopic (4 lx), and photopic (40 lx) illumination conditions. Dynamic pupillary function was evaluated by measuring dilation velocity (DVel, mm/s) following a standardized light stimulus. Postoperative changes (Δ) were calculated as the difference between preoperative and postoperative measurements. RESULTS: Static pupil diameters remained stable in the PXF group across all illumination conditions (p > 0.05). In contrast, the control group demonstrated a significant reduction in scotopic pupil diameter after surgery (p = 0.008), while mesopic and photopic diameters remained unchanged. The most notable finding was observed in pupillary kinetics: dilation velocity significantly increased in the PXF group from 0.13 ± 0.04 mm/s to 0.17 ± 0.05 mm/s (p < 0.001), whereas no significant change was detected in the control group. Between-group comparison showed a significantly greater improvement in dilation velocity in PXF eyes (p < 0.001). Cataract morphology was not associated with postoperative pupillary changes. CONCLUSION: These findings suggest that cataract surgery may be associated with measurable changes in dynamic pupillary behavior in PXF eyes, particularly in dilation velocity, while static pupil diameter remains largely unchanged.
Impact of pupil dilation on IOL power calculation based on biometric measurements with Heidelberg Anterion.
Marquina-Martín S, Segura-Calvo FJ, Puzo-Bayod M … +3 more , Jiménez-García M, Castro-Alonso FJ, UFR-HUMS Group Zaragoza
Doc Ophthalmol · 2026 Jun · PMID 42277479 · Publisher ↗
PURPOSE: To evaluate the impact of pharmacologic pupil dilation (PD) on biometric measurements and intraocular lens (IOL) power calculation using different generation formulas in patients undergoing cataract surgery. MET...
PURPOSE: To evaluate the impact of pharmacologic pupil dilation (PD) on biometric measurements and intraocular lens (IOL) power calculation using different generation formulas in patients undergoing cataract surgery. METHODS: This prospective study included 126 eyes from 75 patients. Biometric data were obtained before and after pharmacologic dilation using the Anterion Swept-Source OCT biometer (Heidelberg Engineering). Parameters recorded included axial length (AL), mean keratometry (Km), anterior chamber depth (ACD), lens thickness (LT), and white-to-white (WTW) distance. IOL power was calculated using six formulas: SRK/T, Haigis, Barrett Universal II (BUII), Kane, Hoffer QST, and Okulix. Statistical comparisons of biometric values and predicted IOL power before and after dilation were conducted using mixed-effects models. RESULTS: No significant changes were observed in AL, CCT, LT or Km after dilation. However, ACD, WTW distance and PD showed statistically significant increases (both p < 0.01). IOL power estimations based on SRK/T, Haigis, Hoffer QST, BUII and Kane were not significantly affected after dilation. In contrast, Okulix formulas demonstrated statistically significant variations in calculated IOL power post-dilation (p < 0.0001). CONCLUSIONS: Pharmacologic pupil dilation induces changes in ACD and WTW measurements obtained using the Anterion Swept-Source biometer, thereby influencing IOL power estimation in formulas incorporating these parameters. Ray-tracing Okulix formula is more sensitive to dilation, whereas third-generation formulas remain more stable. Consistency in pupil status during biometry acquisition is essential to ensure refractive predictability.
Enhancing the detection of visual-cognitive disruptions in automated dyslexia diagnosis using viscoelastic constitutive artificial neural networks for eye movement analysis.
Regilan S, Indumathi R, Jenitha J … +1 more , Sowmiya Manoj M
Doc Ophthalmol · 2026 Jun · PMID 42277478 · Publisher ↗
PURPOSE: Dyslexia can be assessed using eye-tracking technology to monitor reading patterns, but challenges persist in distinguishing dyslexia-specific anomalies from those caused by other factors due to individual readi...
PURPOSE: Dyslexia can be assessed using eye-tracking technology to monitor reading patterns, but challenges persist in distinguishing dyslexia-specific anomalies from those caused by other factors due to individual reading variability. METHODS: To address these challenges, enhancing the Detection of Visual-Cognitive Disruptions in Automated Dyslexia Diagnosis Using Viscoelastic Constitutive Artificial Neural Networks for Eye Movement Analysis (DVDD-VCANN-EMA) is proposed. Firstly, input data is gathered from ETDD70: Eye-Tracking Dyslexia Dataset. Then the input data is pre-processed employing Continuous-Discrete Derivative-Free Extended Kalman Filter (CDDFEKF) which is utilized to clean the data and normalization. Then the pre-processed data are given to High- Order Time-Reassigned Synchrosqueezing Transform (HTSST) for feature extraction. HTSST is employed to extract relevant features such as word vectors, eye movement metrics, and saliency maps. The extracted features are input into the Viscoelastic Constitutive Artificial Neural Networks (VCANN),AQ2 classify such as dyslexic and non-dyslexic. In general, VCANN do not demonstrate the use of optimization strategies to determine weight parameters for accurately diagnosing dyslexia through eye movement analysis. Therefore, the Doll maker Optimization Algorithm (DOA) is employed in this study to optimize the weight parameters of VCANN. RESULTS: The proposed technique implemented in python, demonstrates substantial improvements in accuracy, precision, recall, F1 score, Specificity and AUC. The DVDD-VCANN-EMA model achieves peak performance with 98.5% accuracy, 98.5% recall, and 98.5% F1-score, and the fastest computation time of 1.170 s. CONCLUSION: for effective compare with existing methods such as Dyslexia Analysis and Diagnosis according to Eye Movement (DAEM-CNN), INSIGHT: Combining Fixation Visualisations and Residual Neural Networks for Dyslexia Classification From Eye-Tracking Data (FVDEDNN) and Optimal Ensemble Learning Model for Dyslexia Prediction Based on an Adaptive Genetic Algorithm (OEDP-SVM).
Multimodal neuro-ophthalmologic changes and the impact of CPAP therapy in severe obstructive sleep apnea: a prospective OCT, OCTA, and visual field study.
Gemici YI, Ozturk U, Erdogan M … +3 more , Ilker SS, Yilmaz H, Ak AK
Doc Ophthalmol · 2026 Jun · PMID 42274836 · Publisher ↗
PURPOSE: To evaluate structural, microvascular, and functional neuro-ophthalmologic changes in severe obstructive sleep apnea syndrome (OSAS) and to investigate the effects of 6-month continuous positive airway pressure...
PURPOSE: To evaluate structural, microvascular, and functional neuro-ophthalmologic changes in severe obstructive sleep apnea syndrome (OSAS) and to investigate the effects of 6-month continuous positive airway pressure (CPAP) therapy using a multimodal approach. METHODS: In this prospective case-control study, 38 patients with PSG-confirmed severe OSAS and 19 controls were enrolled. All participants underwent optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), and visual field (VF) testing (24-2 and 10-2). Thirty patients with adequate CPAP adherence were reassessed after 6 months. Baseline comparisons were additionally adjusted for body mass index (BMI), and false discovery rate (FDR) correction was applied for multiple comparisons. RESULTS: Baseline neuro-ophthalmologic differences between OSAS patients and controls did not remain statistically significant after BMI adjustment and FDR correction. Following CPAP therapy, significant increases in average and inferior peripapillary retinal nerve fiber layer (RNFL) thickness were observed and remained significant after FDR correction. Significant improvements were also detected in 24-2 VF indices (VFI, MD, and PSD) and 10-2 PSD values after treatment. In contrast, OCTA-derived vascular parameters and macular thickness changes did not remain significant after correction for multiple comparisons. All polysomnographic parameters and Epworth Sleepiness Scale scores improved significantly after treatment. CONCLUSIONS: Although baseline cross-sectional neuro-ophthalmologic differences were attenuated after BMI adjustment and multiple-comparison correction, longitudinal analyses demonstrated significant structural and functional improvement following CPAP therapy in severe OSAS. Multimodal assessment combining OCT and retinal and macular perimetry may provide a useful framework for monitoring treatment-related neuro-ophthalmologic changes in OSAS.
Blue cone monochromacy with parafoveal hyperautofluorescent ring caused by a novel OPN1LW p.Ile109Asn variant.
Huang J, Brodie SE, Kong J … +3 more , Soucy M, Maumenee IH, Tsang SH
Doc Ophthalmol · 2026 Jun · PMID 42274835 · Publisher ↗
BACKGROUND: Blue Cone Monochromacy is a rare X-linked retinal disorder characterized by the selective loss of long-(L) and medium-(M) wavelength-sensitive cone function. While typically caused by large-scale genomic dele...
BACKGROUND: Blue Cone Monochromacy is a rare X-linked retinal disorder characterized by the selective loss of long-(L) and medium-(M) wavelength-sensitive cone function. While typically caused by large-scale genomic deletions or rearrangements within the OPN1LW/OPN1MW gene cluster, missense mutations are less common. Because blue cone monochromacy is often considered a stationary, congenital condition, sporadic cases lacking a family history can often be misidentified. CASE PRESENTATION: A 12-year-old boy presented with reduced visual acuity and a parafoveal hyperautofluorescent ring pattern on fundus autofluorescence and was initially referred for work-up of CRX-related maculopathy. However, electroretinography (ERG) revealed preserved S-cone and rod function with moderately reduced photopic responses. Genetic sequencing identified a novel, maternally inherited, hemizygous missense mutation in the gene encoding OPN1LW (c.326T > A; p.Ile109Asn). AlphaFold simulations demonstrated that the substitution disrupts the 11-cis-retinal binding pocket by altering the hydrogen bonding network near the critical Lys312 residue. This structural instability likely impairs the phototransduction cascade and delays chromophore clearance, contributing to localized foveal photoreceptor stress and the observed macular structural changes. CONCLUSIONS: This report identifies a novel OPN1LW missense variant and provides a mechanistic basis for its pathogenicity through advanced structural modeling. Our findings demonstrate that blue cone monochromacy can present with atypical, progressive-appearing macular features, potentially mimicking Stargardt disease or other maculopathies. Furthermore, this case highlights the utility of in silico protein modeling in bridging the gap between variants and clinical phenotypes, expanding the known molecular spectrum of X-linked cone disorders.
Oculomotor dysfunction with unremarkable neuroimaging: a diagnostic clue to Gerstmann-Sträussler-Scheinker syndrome.
Ling X, Wu Y, Xie Z … +5 more , Wang Y, Li J, Yang X, Wang Z, Peng Q
Doc Ophthalmol · 2026 Jun · PMID 42265353 · Publisher ↗
BACKGROUND: Gerstmann-Sträussler-Scheinker syndrome (GSS) is an extremely rare genetic prion disease caused by pathogenic mutations in the prion protein gene (PRNP). Further reports and thorough evaluation are needed to...
BACKGROUND: Gerstmann-Sträussler-Scheinker syndrome (GSS) is an extremely rare genetic prion disease caused by pathogenic mutations in the prion protein gene (PRNP). Further reports and thorough evaluation are needed to identify and manage this disease. METHOD: We report a rare case of GSS in a 56-year-old woman who presented with progressive gait instability, dizziness, and speech difficulties. RESULTS: Initial genetic screening for 12 common spinocerebellar ataxia (SCA) subtypes via PCR-based fragment analysis was negative. However, detailed video-oculography (VOG) revealed key ocular motor abnormalities, including spontaneous upbeat nystagmus with a decreasing slow phase velocity, macro-square wave jerks, horizontal gaze-evoked nystagmus, saccadic hypermetria, and decreased optokinetic nystagmus. Given the family history of gait instability and these specific findings, whole-exome sequencing (WES) was performed, which identified a heterozygous p.Pro102Leu (P102L) mutation in the PRNP gene. Neuroimaging was unremarkable, highlighting the clinical-radiological dissociation. CONCLUSIONS: This case demonstrates that a distinctive oculomotor signature can serve as a critical phenotypic lead for GSS, particularly justifying expanded genetic evaluation when conventional SCA panels and neuroimaging are non-diagnostic.
Technical note: a functional data analysis approach to analyze the light-adapted electroretinogram in children and adolescents.
Hlávka Z, Constable PA, Marmolejo-Ramos F … +4 more , Loh L, Thompson DA, Kalina J, Marozzi M
Doc Ophthalmol · 2026 May · PMID 42201484 · Publisher ↗
PURPOSE: To present a new framework for the analysis of the light-adapted electroretinogram using Functional Data Analysis (FDA). METHODS: Light adapted full-field electroretinograms and extracted Oscillatory Potentials...
PURPOSE: To present a new framework for the analysis of the light-adapted electroretinogram using Functional Data Analysis (FDA). METHODS: Light adapted full-field electroretinograms and extracted Oscillatory Potentials waveforms were analyzed using an FDA approach. Waveforms from 71 individuals with autism spectrum disorder and 98 Control participants (mean ± SD age in years): ASD (12.8 ± 4.4) and Control (13.5 ± 4.7) were reanalyzed from previous studies. Robust and powerful nonparametric permutation-based tests were developed for the mean, variance, and first derivative of the waveforms. RESULTS: FDA identified a significant group difference (p=0.049) for the mean of the waveforms between the a-wave minima and b-wave maxima for the 356 and 445 Td.s flash strengths. The Oscillatory Potentials mean and covariance for the mean and first derivative of the waveforms exhibited significant group differences across multiple flash strengths (p=.0244). The combined test statistic for the mean and covariance showed group differences by age and group, but not by sex. CONCLUSION: By treating time-series recordings as functions, the proposed FDA framework enables a more informative assessment of group differences through the analysis of mean structure, covariance, and waveform dynamics captured by first derivatives. This new functional perspective extends beyond traditional time series methods based on peak time and amplitude to provide a powerful tool for uncovering subtle differences between groups.
Clinical endpoints special session, ISCEV 2025, Utrecht.
Hamilton R, Birch D, Stingl K … +7 more , Fujinami K, Holopigian K, Boon CJF, Moseley J, McAnany JJ, Cideciyan AV, van Genderen MM
Doc Ophthalmol · 2026 May · PMID 42162438 · Publisher ↗
This report summarises the Clinical Endpoints Special Session held during the 62nd annual symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV), convened at Tivoli Vredenburg, Utrecht, T...
This report summarises the Clinical Endpoints Special Session held during the 62nd annual symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV), convened at Tivoli Vredenburg, Utrecht, The Netherlands. The session brought together clinicians, regulators, industry representatives, and a patient voice to consider the state of clinical endpoints in trials for inherited retinal disorders (IRDs). Discussions covered the adequacy of current endpoints, challenges of disease heterogeneity, regulatory expectations, operational feasibility, and the perspectives of patients. The session highlighted the need to anchor emerging endpoints to clinically meaningful outcomes and to minimise assessment burdens.
Multifocal visual evoked potential in thyroid associated ophthalmopathy.
Salah MI, El-Shazly AAA, Ashour DM … +3 more , Elsamkary MA, Hamza MN, Abdelgawad RHA
Doc Ophthalmol · 2026 May · PMID 42154138 · Publisher ↗
PURPOSE: To assess the visual function in patients with thyroid associated ophthalmopathy (TAO) without clinical optic neuropathy by multifocal visual evoked potential (mfVEP) and to correlate the findings with Humphrey...
PURPOSE: To assess the visual function in patients with thyroid associated ophthalmopathy (TAO) without clinical optic neuropathy by multifocal visual evoked potential (mfVEP) and to correlate the findings with Humphrey visual field (HVF) and optical coherence tomography (OCT). METHODS: This observational case-control study recruited a consecutive group of euthyroid TAO patients (excluding those with optic neuropathy) and a healthy matched control group. Ophthalmological assessment was done followed by HVF test, OCT retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC), and mfVEP. For mfVEP, results were reported as mean signal-to-noise ratio (SNR) of upper and lower sectors of rings 5-6 (9.9°-22°). RESULTS: Thirty patients were included in each group (TAO patients and controls). No significant differences were observed between the groups in RNFL thickness, GCC thickness, or upper/lower hemifield VF parameters. Analysis of the mfVEP revealed that, before multiple comparisons correction, SNR was lower in TAO patients. A repeated measures analysis of variance confirmed significant main effects for both patient group (p = 0.004), and test location (comparing SNR in the upper vs. lower sectors of rings 5-6) (p < 0.001), but no significant interaction. CONCLUSION: In this limited cohort, initial analysis of mfVEP results suggested reduction of the SNR in TAO patients without clinical optic neuropathy, but these findings did not remain statistically robust after adjustment for multiple comparisons. mfVEP alterations occurred despite normal OCT and visual field findings and warrant further evaluation in larger, longitudinal studies.
Inner retinal cavitations in three cases of NR2E3-associated retinopathy.
Naveen P, Boon CJF, Padhy SK
Doc Ophthalmol · 2026 May · PMID 42135558 · Publisher ↗
PURPOSE: To describe previously unrecognized inner retinal cavitations in patients with Enhanced S-cone syndrome (ESCS) carrying specific NR2E3 mutations, and to evaluate their structural characteristics using multimodal...
PURPOSE: To describe previously unrecognized inner retinal cavitations in patients with Enhanced S-cone syndrome (ESCS) carrying specific NR2E3 mutations, and to evaluate their structural characteristics using multimodal imaging. METHODS: Three patients with molecularly confirmed ESCS, each harboring homozygous NR2E3 variants (c.290G > A [p.Arg97Cys/His] and c.229C > T [p.Arg77Trp]), were evaluated. Detailed clinical assessments included fundus examination, full-field electroretinography (ERG), and multimodal retinal imaging, including swept-source optical coherence tomography (SS-OCT), fundus autofluorescence (FAF), and red-free photography. RESULTS: All patients exhibited classical ESCS functional features: nyctalopia, hyperopia with full-field ISCEV-standard ERGs demonstrating pathognomonic changes consistent with ESCS and additional S-cone ERGs of greater amplitude than standard light-adapted (LA 3.0) ERGs. Bilateral, perhaps oblong like, hypopigmented retinal cavitations were observed along the vascular arcades and nasal to the optic disc. SS-OCT localized these lesions primarily to the ganglion cell and inner plexiform layers, occasionally extending to the outer plexiform layer. Red-free imaging delineated cavitations more clearly than FAF. Hyperautofluorescent foci partially overlapped with the cavitations but did not match their shape. CONCLUSIONS: In this case series, inner retinal cavitations were observed in NR2E3-associated enhanced S-cone syndrome and may represent a previously underrecognized structural feature. Larger studies are needed to establish the broader prevalence of this finding across NR2E3 genotypes.
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