Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy

Costa, Marcelo Fernandes; Oliveira, A. G. F.; Feitosa-Santana, Cláudia; Zatz, Mayana; Ventura, Dora Fix

doi:10.1016/j.ajhg.2008.06.013

Cited by 26 publications

(46 citation statements)

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“…However, there is a lack of visuo-spatial assessment. This is very relevant because DMD patients have recently been shown to present losses in several visual functions (Costa, Oliveira, Feitosa-Santana, Zatz, & Ventura, 2007).…”

Section: Introductionmentioning

confidence: 99%

The use of the Cambridge Neuropsychological Test Automated Battery (CANTAB) in neuropsychological assessment: Application in Brazilian research with control children and adults with neurological disorders.

Roque

Teixeira

Zachi

et al. 2011

Psychology & Neuroscience

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Computerized neuropsychological tests can be effective and have many benefits. This paper addresses these issues using the computer-based Cambridge Neuropsychological Test Automated Battery (CANTAB) to assess Brazilian children and adults. Preliminary normative data for Brazilian children obtained in a series of CANTAB subtests are presented together with data from adults (controls) and samples of patients with multiple sclerosis and Duchenne muscular dystrophy. The results obtained in children confirmed the normative values reported for American children (Luciana & Nelson, 2002), indicating high applicability of the CANTAB battery for children in the evaluation of visual memory, working memory, planning, and set shifting. For multiple sclerosis patients, CANTAB revealed differences between the control and multiple sclerosis groups for all subtests employed, including visual memory, working memory, spatial memory, decision making, inhibitory control, and sustained attention. In children with Duchenne muscular dystrophy, the CANTAB tests revealed specific detriments in attention and memory. These results of the application of CANTAB in different patient groups indicate that the battery is appropriate for assessing several central nervous system diseases.

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Section: Introductionmentioning

confidence: 99%

The use of the Cambridge Neuropsychological Test Automated Battery (CANTAB) in neuropsychological assessment: Application in Brazilian research with control children and adults with neurological disorders.

Roque

Teixeira

Zachi

et al. 2011

Psychology & Neuroscience

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“…19 Mutations downstream of exon 30, which affect Dp260 expression, are associated with an abnormal scotopic electroretinogram (ERG) waveform [21][22][23][24] and some impairment of red-green colour vision. 25 In light of the recent retinal expression studies, we sought to explore the clinical ERG as a potential biomarker of CNS dystrophin expression associated with different DMD genotypes and recorded ERGs to a wide range of flash strengths in a cohort of individuals with a range of mutations across the DMD gene. A subsidiary, but important, aim was to assess in this population whether a validated paediatric ERG protocol would provide results comparable to those from a more demanding international standard method.…”

Section: Introductionmentioning

confidence: 99%

Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

Ricotti

Jägle²,

Theodorou

et al. 2015

Eur J Hum Genet

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Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in the central nervous system (CNS) including the retinal layers. Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD). We studied the ocular characteristics and neuropsychiatric profile of 16 DMD boys. The ISCEV standard, full-field flash ERGs were assessed. Intellectual ability and behavioural disturbances were measured. All genotypes were associated with mildly abnormal photopic ERG a:b-wave amplitude ratios. In addition, we identified the following genotype/phenotype correlations: boys with mutations upstream of exon 30 (ie, isolated Dp427 altered expression) showed normal scotopic a:b ratios, abnormal photopic oscillatory potential OP2 and normal scotopic OP2. Conversely, all boys with DMD mutations downstream of exon 30 showed profoundly 'negative' scotopic ERGs (a:b ratios 41). In these patients, the involvement of Dp260 isoform resulted in the absence of slow rod pathway signalling in15 Hz scotopic flicker ERGs. These boys had abnormal scotopic OP2 and normal photopic OP2. Finally, children with mutations also affecting Dp71 were associated with more pronounced electronegative ERGs. When correlating ERGs to neurodevelopmental outcome, we found a positive correlation between negative scotopic ERGs and neurodevelopmental disturbances, and the most severe findings were in boys with Dp71 disruption. These findings suggest a strong association between DMD mutations affecting different DMD isoforms with characteristically abnormal scotopic ERGs and severe neurodevelopmental problems. The role of the ERG as a potential biomarker for dystrophin function in the CNS and response to novel genetic therapies warrants further exploration.

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“…The CCT has been shown to be more sensitive to detecting visual losses than the other available tests (Castelo-Branco et al, 2004;Costa et al, 2007;Ventura et al, 2003aVentura et al, ,b, 2005aVentura et al, ,b, 2007. The red-green defects observed in the present study may not have been detected previously because of the lower sensitivity of the prior tests.…”

Section: Discussionmentioning

confidence: 99%

Early visual changes in diabetic patients with no retinopathy measured by color discrimination and electroretinography.

Gualtieri¹,

Feitosa-Santana²,

Lago³

et al. 2013

Psychology & Neuroscience

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Early visual changes caused by diabetes include color vision losses and an abnormal full-field electroretinogram. The purpose of this study was to evaluate color vision in type 2 diabetic patients with no clinically detectable retinopathy using an objective psychophysical color vision test, evaluate retinal function assessed by full-field electroretinography ( ff ERG), and verify the agreement among the changes detected by each of these tests. Color vision was tested and ff ERG was performed in 34 diabetic patients (20 males; ages 56 ± 9 years). Results were compared with those obtained from age-matched control groups. Color discrimination losses occurred in all three color-confusion axes with a higher incidence on the protan axis. The fullfield electroretinographic data indicated that inner retinal components (i.e., ff ERG oscillatory potentials) were more affected than outer retinal components, indicating impairment of second-and third-order retinal neurons early in the disease. Previous studies reported tritan losses as a classic color vision defect in diabetes, but our results showed that all three color-confusion axes (i.e., protan, deutan, and tritan) are compromised, at least during the very early stages of the disease, reflecting a diffuse pattern of color vision loss. The full-field electroretinographic results that showed abnormalities of the inner retina support the color vision findings.

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Red-Green Color Vision Impairment in Duchenne Muscular Dystrophy

Cited by 26 publications

References 0 publications

The use of the Cambridge Neuropsychological Test Automated Battery (CANTAB) in neuropsychological assessment: Application in Brazilian research with control children and adults with neurological disorders.

The use of the Cambridge Neuropsychological Test Automated Battery (CANTAB) in neuropsychological assessment: Application in Brazilian research with control children and adults with neurological disorders.

Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system

Early visual changes in diabetic patients with no retinopathy measured by color discrimination and electroretinography.

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