Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Zeitz, Christina; Robson, Anthony G.; Audo, Isabelle

doi:10.1016/j.preteyeres.2014.09.001

Cited by 293 publications

(411 citation statements)

References 280 publications

(488 reference statements)

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“…The signal transduction cascade in the dendritic tips of ON-bipolar cells involves the metabotropic Glutamate Receptor, 6 (mGluR6) glutamate receptors signalling to Transient Receptor Potential cation channel, subfamily M, member 1 (TRPM1) proteins that form part of the transduction channel. Mutations in TRPM1 are thought to be the leading cause for the complete form of autosomal recessive CSNB, also called CSNB1 [1]. Like TRPM1, the other mutations causing autosomal recessive complete CSNB occur in genes expressed in ON-bipolar cells, whose protein products are thought to participate in the rod pathway signal transduction [1].…”

Section: The Rods Connect With the Dendritic Tips Of On-bipolar Cellsmentioning

confidence: 99%

“…Congenital stationary night blindness (CSNB) refers to a group of mainly non-progressive retinal disorders featuring night blindness due to mutations in genes affecting either retinoid metabolism in the retinal pigment epithelium, photoreceptor transduction or signal transmission through the retinal bipolar cells [1]. CSNB is clinically and genetically heterogeneous.…”

Section: Introductionmentioning

confidence: 99%

“…Some forms are associated with poor visual acuity, myopia, nystagmus, strabismus and fundus abnormalities [2][3][4]. CSNB is referred to as "complete" (MIM#613216), when there is no full-field electroretinography (full-field ERG) rod response combined with an electronegative rod-cone ERG with a normal awave (emanating from the photoreceptors) and severely reduced b -wave [1]. Such findings are consistent with an ONbipolar cell dysfunction.…”

Section: Introductionmentioning

confidence: 99%

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Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer

Oreany

Hadlaq

Schatz

2016

Graefes Arch Clin Exp Ophthalmol

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Purpose: To describe congenital stationary night blindness (CSNB) with a negative electroretinogram, hypoplastic discs, nystagmus and thinning of the inner nuclear layer (INL). Methods:Retinal structure was analyzed qualitatively with spectral domain optical coherence tomography and wide field imaging. Retinal function was evaluated with full-field electroretinography (ffERG). Molecular genetic testing included next-generation sequencing (NGS) of the known genes involved in CSNB.Results: Patients presented with CSNB presented with nystagmus, high myopia, hypoplastic discs and negative ffERG with no measurable rod response. The retinas appeared normal and automated segmentation of retinal layers demonstrated a relative reduction of thickness of the INL. There was no significant change in the ffERG after prolonged 2 hour dark adaptation compared to standard 30 minute dark adaptation. Affec ted family members harboured the homozygous 1-bp deletion c.2394delC in exon 18 of the TRPM1 gene, whereas their unaffected parents were heterozygous carriers. Conclusions:This data expands the genotype and phenotype spectrum of CSNB. The lack of improvement of rod responses after prolonged dark adaptation, together with thinning of the INL, is compatible with postreceptoral transmission dysfunction in the bipolar cells. Such knowledge may prove useful in future development of treatment for outer retinal dystrophies, using opsin genes to restore light responses in survivor neurons in the inner retina.

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Section: The Rods Connect With the Dendritic Tips Of On-bipolar Cellsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer

Oreany

Hadlaq

Schatz

2016

Graefes Arch Clin Exp Ophthalmol

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“…Riggs type CSNB is seen with mutations in the guanine nucleotide binding protein, alpha transducin 1 gene encoding GNAT1 (65,66). It is also seen in patients with mutations in Rho, Pde6b, and Slc24A1 (64,67).…”

Section: Mutations In Critical Retinal Proteins Cause Congenital Statmentioning

confidence: 99%

“…This is due to the impairment of both rod and cone signaling because of defective pre-synaptic function. iCSNB patients have some degree of scotopic rod function present (64). Because iCSNB affects rod and cone signaling, there is typically a greater loss in visual acuity, causing increased visual restrictions compared to those with cCSNB.…”

Section: Mutations In Critical Retinal Proteins Cause Congenital Statmentioning

confidence: 99%

Functional and structural impact of the loss of the leucine-rich repeat protein LRIT1 in the mouse retina.

Cobb¹

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Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3)

et al. 2016

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; for the UK Inherited Retinal Disease Consortium M any inherited retinal diseases are associated with mutation of genes encoding proteins involved in phototransduction and consequent signaling within the retina (RetNet; http://www.sph.uth.tmc.edu/RetNet/). This report describes a human retinopathy associated with a homozygous null mutation in the G-protein β subunit 3 (GNB3) gene, identified using whole-exome sequencing. The GNB3 gene encodes the G-protein β subunit 3 (Gβ3), involved in the signaling of mammalian cone photoreceptors and ON-bipolar cells. 1 To our knowledge, GNB3 has not previously been implicated in human disease, although a homozygous GNB3 mutation can cause retinal dystrophy in chickens. 2 Author Affiliations: Author affiliations are listed at the end of this article. Group Information: The UK Inherited Retinal Disease Consortium members are listed at the end of this article.

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Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Cited by 293 publications

References 280 publications

Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer

Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer

Functional and structural impact of the loss of the leucine-rich repeat protein LRIT1 in the mouse retina.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3)

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