Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)

Weleber, Richard G.; Gupta, Nisha; Trzupek, Karmen M; Wepner, Meredith S.; Kurz, Daryl E.; Milam, Ann H.

doi:10.1016/j.ymgme.2004.06.019

Cited by 55 publications

(42 citation statements)

References 49 publications

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“…The same effects are caused by dysfunctions of the lysosomal system. Neuronal ceroid lipofuscinoses, also termed as ''Batten's disease'', including different inherited lysosomal storage disease, resulting in progressive and finally lethal neuronal disorders (Dawson and Cho, 2000;Weleber et al, 2004;Cooper, 2003). Until now eight different forms of the disease are known, affecting proteases that are involved in lysosomal degradation, like palmitoyl-protein thioesterase 1 (CLN1), the tripeptidylpeptidase 1 (CLN2), and cathepsin D (CLN8).…”

Section: Different Stages Of Protein Oxidationmentioning

confidence: 99%

The proteasomal system

Jung

Karademir

Grune

2009

Molecular Aspects of Medicine

363

311

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Section: Different Stages Of Protein Oxidationmentioning

confidence: 99%

The proteasomal system

Jung

Karademir

Grune

2009

Molecular Aspects of Medicine

363

311

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“…A clinical ERG protocol that conformed to the standard of the International Society for the Clinical Electrophysiology of Vision was performed at both sites [20][21][22]. Scotopic testing included rod responses to short (λ < 470 nm, blue) and long wavelength (λ > 600 nm, red) stimuli matched in intensity to produce equal rod-mediated response amplitudes in normal subjects, as well as a bright white flash (mixed rod-cone response).…”

Section: Protocolmentioning

confidence: 99%

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency

Gillingham

Weleber

Neuringer

et al. 2005

Molecular Genetics and Metabolism

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The objective of this prospective cohort study was to determine if dietary therapy including docosahexaenoic acid (DHA; C22:6ω-3) supplementation prevents the progression of the severe chorioretinopathy that develops in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Physical, biochemical, and ophthalmological evaluations, including electroretinogram (ERG) and visual acuity by evoked potential (VEP), were performed at baseline and annually following the initiation of 65-130 mg/day DHA supplementation and continued treatment with a low-fat diet. Fourteen children with LCHAD or TFP deficiency, 1-12 years of age at enrollment, were followed for 2-5 years. Three subjects with TFP β-subunit mutations had normal appearance of the posterior pole of the ocular fundi at enrollment and no changes over the course of the study. Eleven subjects who were homozygote and heterozygote for the common mutation, c.1528G > C, had no change to severe progression of atrophy of the choroid and retina with time. Of these, four subjects had marked to severe chorioretinopathy associated with high levels of plasma hydroxyacylcarnitines and decreased color, night and/or central vision during the study. The plasma level of long-chain 3-hydroxyacylcarnitines, metabolites that accumulate as a result of LCHAD and TFP deficiency, was found to be negatively correlated with maximum ERG amplitude (R max ) (p=0.0038, R 2 =0.62). In addition, subjects with sustained low plasma long-chain NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript 3-hydroxyacylcarnitines maintained higher ERG amplitudes with time compared to subjects with chronically high 3-hydroxyacylcarnitines. Visual acuity, as determined with the VEP, appeared to increase with time on DHA supplementation (p=0.051) and there was a trend for a positive correlation with plasma DHA concentrations (p=0.075, R 2 =0.31). Thus, optimal dietary therapy as indicated by low plasma 3-hydroxyacylcarnitine and high plasma DHA concentrations was associated with retention of retinal function and visual acuity in children with LCHAD or TFP deficiency.

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“…Retinal findings include a bull's eye maculopathy, retinal pigment epithelium (RPE) atrophy, peripheral pigmentary disturbances, and a reduced or extinguished electroretinogram. 5,6,[8][9][10][11][12][13] Despite the clinical heterogeneity, all forms of NCL share large accumulation of hydrophobic autofluorescent material in the cytoplasm of neurons in the brain and retina. Previously these intracytoplasmic deposits were thought to be composed of ceroid and lipofuscin.…”

Section: Introductionmentioning

confidence: 99%

“…In comparison, controls have autofluorescence primarily confined to the RPE. 13,15 Confocal scanning laser ophthalmoscopy is a means of measuring fundus autofluorescence (FAF) in vivo. 16,17 Lipofuscin in the RPE is the dominant source of FAF 18 .…”

Section: Introductionmentioning

confidence: 99%