FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum

Wei, Xing; Li, Hui; Zhu, Tao; Yao, Feng; Sui, Ruifang

doi:10.1016/j.exer.2023.109600

Experimental Eye Research

2023

DOI: 10.1016/j.exer.2023.109600

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FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum

Xing Wei

Hui Li

Tao Zhu

et al.

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Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology

Calcagni,

Neveu,

Jurkute

et al. 2024

Eye

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This article describes the main visual electrodiagnostic tests relevant to neuro-ophthalmology practice, including the visual evoked potential (VEP), and the full-field, pattern and multifocal electroretinograms (ffERG; PERG; mfERG). The principles of electrophysiological interpretation are illustrated with reference to acquired and inherited optic neuropathies, and retinal disorders that may masquerade as optic neuropathy, including ffERG and PERG findings in cone and macular dystrophies, paraneoplastic and vascular retinopathies. Complementary VEP and PERG recordings are illustrated in demyelinating, ischaemic, nutritional (B12), and toxic (mercury, cobalt, and ethambutol-related) optic neuropathies and inherited disorders affecting mitochondrial function such as Leber hereditary optic neuropathy and dominant optic atrophy. The value of comprehensive electrophysiological phenotyping in syndromic diseases is highlighted in cases of SSBP1-related disease and ROSAH (Retinal dystrophy, Optic nerve oedema, Splenomegaly, Anhidrosis and Headache). The review highlights the value of different electrophysiological techniques, for the purposes of differential diagnosis and objective functional phenotyping.

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Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology

Calcagni,

Neveu,

Jurkute

et al. 2024

Eye

View full text Add to dashboard Cite

show abstract

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FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum

Cited by 1 publication

References 59 publications

Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology

Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology

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