Importance diagnostique et pronostique de l'électrorétinogramme (ERG) dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie

Franceschetti, A; Dieterle, P

doi:10.1159/000105710

Cited by 108 publications

(18 citation statements)

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“…1 The diagnosis is generally made at birth or during the first months of life in an infant with total blindness or greatly impaired vision, normal fundus and extinguished electroretinogram (ERG). 2 It is generally accepted that LCA accounts for 5% of all retinal dystrophies but considering the high rate of consanguinity in LCA families, we assume that this frequency is underestimated and that this condition is not uncommon in countries with a high rate of consanguineous unions. 3,4 A certain degree of clinical heterogeneity has long been recognised in LCA but these clinical differences have been largely ignored.…”

Section: Introductionmentioning

confidence: 93%

Spectrum of retGC1 mutations in Leber's congenital amaurosis

et al. 2000

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Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995 we localised the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996 we ascribed LCA1 to mutations in the photoreceptor-specific guanylate cyclase gene (retGC1). Here, we report on the screening of the whole coding sequence of the retGC1 gene in 118 patients affected with LCA. We found 22 different mutations in 24 unrelated families originating from various countries of the world. It is worth noting that all retGC1 mutations consistently caused congenital cone-rod dystrophy in our series, confirming the previous genotype-phenotype correlations we were able to establish. RetGC1 is an essential protein implicated in the phototransduction cascade, especially in the recovery of the dark state after the excitation process of photoreceptor cells by light stimulation. We postulate that the retGC1 mutations hinder the restoration of the basal level of cGMP of cone and rod photoreceptor cells, leading to a situation equivalent to consistent light exposure during photoreceptor development, explaining the severity of the visual disorder at birth.

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Section: Introductionmentioning

confidence: 93%

Spectrum of retGC1 mutations in Leber's congenital amaurosis

et al. 2000

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“…It is diagnosed as an early-onset, bilateral retinal dystrophy associated with a severely diminished or absent electroretinogram (ERG) before the age of 1 year. 1 Shortly after birth, patients usually present with poor fixation, nystagmus, photophobia, and amaurotic pupils. Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE).…”

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confidence: 99%

Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles

Zernant¹,

Külm

Dharmaraj

et al. 2005

Invest. Ophthalmol. Vis. Sci.

138

110

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The LCA genotyping microarray is a robust and cost-effective screening tool, representing the prototype of a disease chip for genotyping patients with a genetically heterogeneous condition. Simultaneous screening for all known LCA-associated variants in large LCA cohorts allows systematic detection and analysis of genetic variation, facilitating prospective diagnosis and ultimately predicting disease progression.

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“…The macular reflex was clear in three children (cases 5,8,9), while in others it was only slightly abnormal (not so clear), without extra granularity and hyper-or hypopigmentation. Peripheral retinal pigment mottling -a sign of mild retinal dystrophy -was noticed in 4 children (cases 1,2,3,8). No other specific pathology, such as bone spicules or large dystrophic areas or macular coloboma, was found.…”

Section: Clinical Examinationmentioning

confidence: 94%

ERG and VEP follow-up study in children with Leber's congenital amaurosis

Brecelj

Stirn-Kranjc

1999

Eye

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Purpose Our prospective clinical and electrophysiological study of children suspected of Leber's congenital amaurosis (LCA) was aimed to follow-up the course of their visual dysfunction.Methods Electroretinography (ERG) and visual evoked potentials (VEP) to white flash stimulation were simultaneously recorded in 9 children at least twice. ResultsThe first flash ERG and flash YEP recordings were performed when children were 3-17 months old (mean age 7.6 months).Flash ERG was not recordable in 8 children;flash YEP to binocular stimulation could not be detected in 3, was delayed in 2, attenuated in 2, both attenuated and delayed in 1, and without evident abnormality in 1 of the 9 children. On the last examination (mean age unrecordable or highly attenuated ERG, severe visual deficit from infancy and absence of other specific retinal or multisystemic disorder. 1

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Importance diagnostique et pronostique de l'électrorétinogramme (ERG) dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie

Cited by 108 publications

References 0 publications

Spectrum of retGC1 mutations in Leber's congenital amaurosis

Spectrum of retGC1 mutations in Leber's congenital amaurosis

Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles

ERG and VEP follow-up study in children with Leber's congenital amaurosis

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