Dataset Information

Electro-oculography in bilateral optic neuropathy.

ABSTRACT:

Objective

Effect of bilateral, optic neuropathy on the function of retinal pigment epithelium has not been investigated extensively to date. This study aimed to determine the effect of bilateral, optic neuropathy on light peak:dark trough ratio, light peak and dark trough values of electro-oculography. Thirty-seven patients with a clinical diagnosis of bilateral optic neuropathy and 40 control subjects were recruited in this observational, cross-sectional study, carried out at the Neurophysiology unit, Teaching Hospital, Peradeniya, Sri Lanka. Pattern reversal visual evoked potentials, pattern electroretinography and electro-oculography were recorded in all of them.

Results

Twenty-four patients (64.9%) had reduced light peak:dark trough ratio values. The median light peak:dark trough ratio?±?inter quartile range of the patient group (1.50?±?0.4) was significantly lower than that of the controls (1.80?±?0.2), (p?

SUBMITTER: Dahanayake P

PROVIDER: S-EPMC7310542 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Publications

Electro-oculography in bilateral optic neuropathy.

Dahanayake Padmini P Dassanayake Tharaka L TL Pathirage Manoji M Senanayake Saman S Sedgwick Mike M Weerasinghe Vajira V

BMC research notes 20200612 1

<h4>Objective</h4>Effect of bilateral, optic neuropathy on the function of retinal pigment epithelium has not been investigated extensively to date. This study aimed to determine the effect of bilateral, optic neuropathy on light peak:dark trough ratio, light peak and dark trough values of electro-oculography. Thirty-seven patients with a clinical diagnosis of bilateral optic neuropathy and 40 control subjects were recruited in this observational, cross-sectional study, carried out at the Neurop ...[more]

PMID: 32571391

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Project description:Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an important role in risk assessment and counseling. The purpose of this study is to determine the prevalence and spectrum of mutations in a group of patients referred for genetic testing to a tertiary center in the United States. In addition, we compared the clinical features of patients with and without mutations in OPA1, the gene most commonly involved in dominantly inherited optic atrophy.Clinical data and genetic testing results were reviewed for 74 unrelated, consecutive patients referred with a history of insidious, relatively symmetric, bilateral visual loss secondary to an optic neuropathy. Patients were evaluated for disease-causing variants in OPA1, OPA3, WFS1, and the entire mitochondrial genome with DNA sequencing and copy number variation (CNV) testing.Pathogenic DNA variants were found in 25 cases, with the majority (24 patients) located in OPA1. Demographics, clinical history, and clinical features for the group of patients with mutations in OPA1 were compared to those without disease-causing variants. Compared to the patients without mutations, cases with mutations in OPA1 were more likely to have a family history of optic nerve disease (p = 0.027); however, 30.4% of patients without a family history of disease also had mutations in OPA1. OPA1 mutation carriers had less severe mean deviation and pattern standard deviation on automated visual field testing than patients with optic atrophy without mutations in OPA1 (p<0.005). Other demographic and ocular features were not statistically significantly different between the two groups, including the fraction of patients with central scotomas (42.9% of OPA1 mutation positive and 66.0% of OPA1 mutation negative).Genetic testing identified disease-causing mutations in 34% of referred cases, with the majority of these in OPA1. Patients with mutations in OPA1 were more likely to have a family history of disease; however, 30.4% of patients without a family history were also found to have an OPA1 mutation. This observation, as well as similar frequencies of central scotomas in the groups with and without mutations in OPA1, underscores the need for genetic testing to establish an OPA1 genetic diagnosis.

Dataset Information

Electro-oculography in bilateral optic neuropathy.

Objective

Results

Publications

Electro-oculography in bilateral optic neuropathy.

Similar Datasets

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