Electronegative electroretinogram in the modern multimodal imaging era

Sakti, Dhimas Hari; Ali, Haipha; Korsakova, Maria; Saakova, Nonna; Mustafic, Nina; Fraser, Clare L.; Jamieson, Robyn V; Cornish, Elisa E; Grigg, John

doi:10.1111/ceo.14065

Cited by 9 publications

(10 citation statements)

References 44 publications

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“…ffERG and mfERG thus play an essential role in the workup of patients suspected of XLRS in addition to genetic testing. However, electronegative ERG by itself can be associated with other disorders, ranging from other inherited disorders such as congenital stationary night blindness to acquired disorders such as retinal ischemia or paraneoplastic autoimmune retinopathy [ 67 ]. A combination of clinical exams, multi-modal imaging including OCT, and fundus imaging as well as electrophysiological testing is therefore necessary for the workup of XLRS.…”

Section: Application Of Electrophysiology In Macular Dystrophiesmentioning

confidence: 99%

Electrophysiological Evaluation of Macular Dystrophies

Chiang

2023

JCM

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Macular dystrophies are a heterogeneous group of genetic disorders that often severely threatens the bilateral central vision of the affected patient. While advances in molecular genetics have been instrumental in the understanding and diagnosis of these disorders, there remains significant phenotypical variation among patients within any particular subset of macular dystrophies. Electrophysiological testing remains a vital tool not only to characterize vision loss for differential diagnosis but also to understand the pathophysiology of these disorders and to monitor the treatment effect, potentially leading to therapeutic advances. This review summarizes the application of electrophysiological testing in macular dystrophies, including Stargardt disease, bestrophinopathies, X-linked retinoschisis, Sorsby fundus dystrophy, Doyne honeycomb retina dystrophy, autosomal dominant drusen, occult macular dystrophy, North Carolina macular dystrophy, pattern dystrophy, and central areolar choroidal dystrophy.

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Section: Application Of Electrophysiology In Macular Dystrophiesmentioning

confidence: 99%

Electrophysiological Evaluation of Macular Dystrophies

Chiang

2023

JCM

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“…ERG research has made significant progress in enhancing diagnostic capabilities, standardization, and the objective evaluation of retinal function 3 , 4 , 5 , 6 , 7 . Nevertheless, challenges persist regarding interpretation, seamless clinical integration, and widespread accessibility 8 , as ERG assessments classically require a more complex technical background with costly equipment and well-trained personnel.…”

Section: Introductionmentioning

confidence: 99%

The Use of the RETeval Portable Electroretinography Device for Low-Cost Screening: A Mini-Review

Saad,

Turgut,

Sommer

et al. 2024

Klin Monbl Augenheilkd

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Electroretinography (ERG) provides crucial insights into retinal function and the integrity of the visual pathways. However, ERG assessments classically require a complicated technical background with costly equipment. In addition, the placement of corneal or conjunctival electrodes is not always tolerated by the patients, which restricts the measurement for pediatric evaluations. In this short review, we give an overview of the use of the RETeval portable ERG device (LKC Technologies, Inc., Gaithersburg, MD, USA), a modern portable ERG device that can facilitate screening for diseases involving the retina and the optic nerve. We also review its potential to provide ocular biomarkers in systemic pathologies, such as Alzheimerʼs disease and central nervous system alterations, within the framework of oculomics.

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“…These structural findings overlap with Stargardt disease or retinitis pigmentosa (RP) [18,19]. Where CLN3 disease is a differential diagnosis, it is critical that a full-field electroretinogram (ffERG) is performed, as this may demonstrate an electronegative ERG (b:a ratio ≤ 1 in dark adapted 3.0 or 12.0 ERG) [16,18,[20][21][22]. Other classical ocular features of CLN3 disease may then be elucidated on ophthalmic examination, alerting the clinician to the possibility of this disorder and the need for neurogenetic review.…”

Section: Introductionmentioning

confidence: 99%

“…In that study, 5 patients from a total of 123 retinal degeneration patients had a CLN3 mutation with 4 RCD and 1 CRD phenotype [ 15 ]. Data from our previous study showed that all CLN3 patients in our study centre had an electronegative ERG, suggesting its importance in this particular diagnosis [ 16 ].…”

Section: Introductionmentioning

confidence: 99%

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging

et al. 2023

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Background Neuronal ceroid lipofuscinosis is a group of neurodegenerative disorders with varying visual dysfunction. CLN3 is a subtype which commonly presents with visual decline. Visual symptomatology can be indistinct making early diagnosis difficult. This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy. Methods Retrospective review of 5 confirmed CLN3 patients in our eye clinic. Best corrected visual acuity (BCVA), electroretinogram (ERG), ultra-widefield (UWF) fundus photography and fundus autofluorescence (FAF), and optical coherence tomography (OCT) studies were undertaken. Results Five unrelated children, 4 females and 1 male, with median age of 6.2 years (4.6–11.7) at first assessment were investigated at the clinic from 2016 to 2021. Four homozygous and one heterozygous pathogenic CLN3 variants were found. Best corrected visual acuities (BCVAs) ranged from 0.18 to 0.88 logMAR at first presentation. Electronegative ERGs were identified in all patients. Bull’s eye maculopathies found in all patients. Hyper-autofluorescence ring surrounding hypo-autofluorescence fovea on FAF was found. Foveal ellipsoid zone (EZ) disruptions were found in all patients with additional inner and outer retinal microcystic changes in one patient. Neurological problems noted included autism, anxiety, motor dyspraxia, behavioural issue, and psychomotor regression. Conclusions CLN3 patients presented at median age 6.2 years with visual decline. Early onset maculopathy with an electronegative ERG and variable cognitive and motor decline should prompt further investigations including neuropaediatric evaluation and genetic assessment for CLN3 disease. The structural parameters such as EZ and FAF will facilitate ocular monitoring.

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Electronegative electroretinogram in the modern multimodal imaging era

Cited by 9 publications

References 44 publications

Electrophysiological Evaluation of Macular Dystrophies

Electrophysiological Evaluation of Macular Dystrophies

The Use of the RETeval Portable Electroretinography Device for Low-Cost Screening: A Mini-Review

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging

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