X-linked Congenital Stationary Night Blindness

Miyake, Yoichi

doi:10.1001/archopht.1989.01070010653009

Cited by 4 publications

(3 citation statements)

References 2 publications

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“…One of the four affected males in the family reported by Khouri et al (1988) (designated "21" in the report by Musarella et al [1989]) had both myopia and a relative lack of oscillatory potentials, consistent with complete CSNB, and two of nine affected males in a family reported by Pearce et al (1990) ("family C"; referred to as "family 60" in the present report) had a dark-adaptation reduction that was severe enough to be considered an indication of complete CSNB, in accordance with the original definition (Miyake et al 1986). These two families are included here as having incomplete CSNB, on the basis of both reevaluation of data (Miyake 1989;Weleber et al 1989) and further clinical analyses (Bech-Hansen et al, in press).…”

Section: Familiesmentioning

confidence: 99%

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Boycott

Pearce

Musarella

et al. 1998

The American Journal of Human Genetics

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X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by disturbed or absent night vision; its clinical features may also include myopia, nystagmus, and impaired visual acuity. X-linked CSNB is clinically heterogeneous, and it may also be genetically heterogeneous. We have studied 32 families with X-linked CSNB, including 11 families with the complete form of CSNB and 21 families with the incomplete form of CSNB, to identify genetic-recombination events that would refine the location of the disease genes. Critical recombination events in the set of families with complete CSNB have localized a disease gene to the region between DXS556 and DXS8083, in Xp11.4-p11.3. Critical recombination events in the set of families with incomplete CSNB have localized a disease gene to the region between DXS722 and DXS8023, in Xp11.23. Further analysis of the incomplete-CSNB families, by means of disease-associated-haplotype construction, identified 17 families, of apparent Mennonite ancestry, that share portions of an ancestral chromosome. Results of this analysis refined the location of the gene for incomplete CSNB to the region between DXS722 and DXS255, a distance of 1.2 Mb. Genetic and clinical analyses of this set of 32 families with X-linked CSNB, together with the family studies reported in the literature, strongly suggest that two loci, one for complete (CSNB1) and one for incomplete (CSNB2) X-linked CSNB, can account for all reported mapping information.

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Section: Familiesmentioning

confidence: 99%

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Boycott

Pearce

Musarella

et al. 1998

The American Journal of Human Genetics

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“…Patients with autosomal recessive cCSNB and NYX mutation often have high myopia, while those with autosomal recessive iCSNB and CACNA1F mutation may develop myopia or hyperopia. On the other hand, those with autosomal dominant Riggs and RHO mutation do not typically have myopia, strabismus, or amblyopia [24,25].…”

Section: Clinical Presentationmentioning

confidence: 99%

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide

Yang,

Kang,

Lin

et al. 2023

Diagnostics

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Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing.

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“…Bien que congénitales, ces deux dernières sont souvent de découverte fortuite ou tardive au cours de l'exploration d'une héméralopie de d'adolescent ou de l'adulte, l'acuité visuelle associée étant la plus souvent normale et le nystagmus fréquemment absent. Les fonds d'yeux sont caractéristiques (Miyake, 2006a), (Miyake, 2006b), (Audo, Robson, Holder & Moore, 2008).…”

Section: Classification Des Héméralopies Congénitales Essentielles Stunclassified

VII-2 : ELECTROPHYSIOLOGIE PEDIATRIQUE : EXEMPLES Première partie

Rigaudière¹,

Gargasson²,

Delouvrier³

2012

Oeil Et Physiologie De La Vision

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X-linked Congenital Stationary Night Blindness

Cited by 4 publications

References 2 publications

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide

VII-2 : ELECTROPHYSIOLOGIE PEDIATRIQUE : EXEMPLES Première partie

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