Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
Human Mutation,Volume 0, Issue ja, -Not available-. (Source: Human Mutation)
Source: Human Mutation - August 6, 2018 Category: Genetics & Stem Cells Authors: NicoleWeisschuh
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KatarinaStingl
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IsabelleAudo
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SaskiaBiskup
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B éatriceBocquet
,
KariBranham
,
Marie SBurstedt
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ElfrideDe Baere
,
Meindert JDe Vries
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IrinaGolovleva
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AndrewGreen
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JohnHeckenlively
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Bart PLeroy
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Isabell Source Type: research
Six Years and Counting: Restoration of Photopic Retinal Function and Visual Behavior Following Gene Augmentation Therapy in a Sheep Model of CNGA3 Achromatopsia
Human Gene Therapy, Ahead of Print. (Source: Human Gene Therapy)
Source: Human Gene Therapy - July 30, 2018 Category: Genetics & Stem Cells Authors: Ron Ofri Edward Averbukh Raaya Ezra-Elia Maya Ross Hen Honig Alexey Obolensky Alexander Rosov William W Hauswirth Elisha Gootwine Eyal Banin Source Type: research
Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation
This report describes foveal hypoplasia in a brother and sister with SOPH syndrome, which is associated with defects in the neuroblastoma amplified sequence (NBAS) gene. As NBAS gene may play an important role in retinal homeostasis, patients with SOPH should be monitored carefully for ocular abnormalities. (Source: Journal of American Association for Pediatric Ophthalmology and Strabismus)
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - July 10, 2018 Category: Opthalmology Source Type: research
ISCEV extended protocol for the dark-adapted red flash ERG
Abstract
The International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum procedure, but encourages more extensive testing. This ISCEV extended protocol describes an extension to the ERG standard, namely the dark-adapted (DA) red flash ERG. The DA red flash ERG can be incorporated conveniently within the ISCEV standard ERG protocol after a minimum of 20-min DA and recorded after the DA 0.01 ERG to a flash strength of 0.3 phot cd s m−2, eliciting a waveform with two positive peaks in healthy individuals. The first positive component is...
Source: Documenta Ophthalmologica - June 22, 2018 Category: Opthalmology Source Type: research
Gene therapy and genome surgery in the retina
Precision medicine seeks to treat disease with molecular specificity. Advances in genome sequence analysis, gene delivery, and genome surgery have allowed clinician-scientists to treat genetic conditions at the level of their pathology. As a result, progress in treating retinal disease using genetic tools has advanced tremendously over the past several decades. Breakthroughs in gene delivery vectors, both viral and nonviral, have allowed the delivery of genetic payloads in preclinical models of retinal disorders and have paved the way for numerous successful clinical trials. Moreover, the adaptation of CRISPR-Cas systems f...
Source: Journal of Clinical Investigation - June 2, 2018 Category: Biomedical Science Authors: James E. DiCarlo, Vinit B. Mahajan, Stephen H. Tsang Source Type: research
ISCEV extended protocol for the dark-adapted red flash ERG
Abstract
The International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum procedure, but encourages more extensive testing. This ISCEV extended protocol describes an extension to the ERG standard, namely the dark-adapted (DA) red flash ERG. The DA red flash ERG can be incorporated conveniently within the ISCEV standard ERG protocol after a minimum of 20-min DA and recorded after the DA 0.01 ERG to a flash strength of 0.3 phot cd s m−2, eliciting a waveform with two positive peaks in healthy individuals. The first positive component is...
Source: Documenta Ophthalmologica - June 1, 2018 Category: Opthalmology Source Type: research
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
CONCLUSIONS: Our findings underscore the importance an ophthalmologist plays in informing patients regarding the options now available for using prenatal and preimplantation genetic diagnosis to avoid having a child with a potentially devastating genetic form of eye disease or ocular cancer. This strategy is highly relevant, particularly given the limited options currently available for treating these conditions.
PMID: 29781739 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - May 22, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Foveal hypoplasia in a patient with achromatopsia.
Authors: Aydın R, Özbek M, Karaman Erdur S, Şentürk F
PMID: 29773314 [PubMed - as supplied by publisher] (Source: Journal Francais d Ophtalmologie)
Source: Journal Francais d Ophtalmologie - May 20, 2018 Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
Electronegative electroretinogram in achromatopsia
Conclusion:
Novel electroretinography findings in a patient with genetically confirmed achromatopsia are reported. The electronegative configuration in this clinical setting is of unclear etiology; however, it may suggest some component of inner retinal dysfunction. (Source: Retinal Cases and Brief Reports)
Source: Retinal Cases and Brief Reports - March 19, 2018 Category: Opthalmology Tags: Case Report Source Type: research
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature
Achromatopsia is an inherited retinal disease that affects the cone cell function. It is a genetic dysfunction of all types of cones1 and is usually an autosomal-recessive disease that affects 1:30,000 to 1:50,000 births. It is characterized by presentation at birth or early infancy with pendular nystagmus, poor visual acuity, lack of color vision, and marked photophobia.2,3 The clinical signs and symptoms of achromatopsia vary. Typical clinical presentation includes photophobia, pendular nystagmus, poor visual acuity, and color vision deficiency, among others. These symptoms usually start at (Source: Journal of Pediatric ...
Source: Journal of Pediatric Ophthalmology and Strabismus - March 16, 2018 Category: Opthalmology Authors: Isabel Pascual-Camps, MD, PhD Source Type: research
Cerebral achromatopsia secondary to ischemic stroke
Chenguang Zhou, Yuanhong He, Xiangying LiNeurology India 2018 66(2):573-575 (Source: Neurology India)
Source: Neurology India - March 15, 2018 Category: Neurology Authors: Chenguang Zhou Yuanhong He Xiangying Li Source Type: research
An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.
Abstract
The cyclic nucleotide-gated (CNG) channel - composed of CNGA3 and CNGB3 subunits - mediates the influx of cations in cone photoreceptors after light stimulation and thus is a key element in cone phototransduction. Mutations in CNGA3 and CNGB3 are associated with achromatopsia, a rare autosomal recessive retinal disorder. Here, we demonstrate that the presence of an early nonsense mutation in CNGA3 induces the usage of a downstream alternative translation initiation site giving rise to a short CNGA3 isoform. The expression of this short isoform was verified by Western blot analysis and DAB staining...
Source: Experimental Eye Research - February 27, 2018 Category: Opthalmology Authors: Täger J, Kohl S, Birch D, Wheaton DKH, Wissinger B, Reuter P Tags: Exp Eye Res Source Type: research
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.
This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches. Finally, we discuss current human gene therapy trials.
PMID: 29303385 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 6, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Loss of the cone-enriched caspase-7 does not affect secondary cone death in retinitis pigmentosa.
Conclusions: Secondary cone death in retinitis pigmentosa is unlikely to be triggered by ER stress and is likely independent of Casp7 activity.
PMID: 29296074 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - January 5, 2018 Category: Molecular Biology Tags: Mol Vis Source Type: research
