Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish
Gregory-Evans (Source: Cell Death and Differentiation)
Source: Cell Death and Differentiation - January 10, 2014 Category: Cytology Authors: I A ViringipurampeerX ShanK Gregory-EvansJ P ZhangZ MohammadiC Y Gregory-Evans Tags: RIP3 RIP1 Pde6c retina zebrafish achromatopsia Source Type: research
Potential of Handheld Optical Coherence Tomography to Determine Cause of Infantile Nystagmus in Children by Using Foveal Morphology
Conclusions: We demonstrate excellent feasibility of HH SD-OCT in the diagnosis of conditions associated with infantile nystagmus. The HH SD-OCT classification of foveal abnormalities was highly sensitive and specific. This classification was used to determine the underlying cause of infantile nystagmus. Handheld SD-OCT in early childhood can facilitate focused investigations and earlier diagnosis. This is important in an era when potentially time-sensitive treatment, such as gene therapy, is imminent.Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this articl...
Source: Ophthalmology - October 23, 2013 Category: Opthalmology Authors: Helena Lee, Viral Sheth, Mashal Bibi, Gail Maconachie, Aarti Patel, Rebecca J. McLean, Michel Michaelides, Mervyn G. Thomas, Frank A. Proudlock, Irene Gottlob Tags: Original Articles Source Type: research
Retinal Structure and Function in Achromatopsia: Implications for Gene Therapy
Conclusions: The lack of a clear association of disruption of retinal structure or function in ACHM with age suggests that the window of opportunity for intervention by gene therapy is wider in some individuals than previously indicated. Therefore, the potential benefit for a given subject is likely to be better predicted by specific measurement of photoreceptor structure rather than simply by age. The ability to directly assess cone photoreceptor preservation with SD-OCT and/or adaptive optics imaging is likely to prove invaluable in selecting subjects for future trials and measuring the trials' impact. (Source: Ophthalmology)
Source: Ophthalmology - October 21, 2013 Category: Opthalmology Authors: Venki Sundaram, Caroline Wilde, Jonathan Aboshiha, Jill Cowing, Colin Han, Christopher S. Langlo, Ravinder Chana, Alice E. Davidson, Panagiotis I. Sergouniotis, James W. Bainbridge, Robin R. Ali, Alfredo Dubra, Gary Rubin, Andrew R. Webster, Anthony T. Mo Tags: Original Articles Source Type: research
Diagnostic Fundus Autofluorescence Patterns in Achromatopsia
Conclusions: Foveal hyperfluorescence is an early sign of achromatopsia that can aid in clinical diagnosis. In our cohort, patients with achromatopsia demonstrated age-dependent changes in FAF, which are likely to be progressive and to correlate with foveal atrophy and cavitation on OCT. This finding may be useful in charting the natural course of the disease and in defining a therapeutic window for treatment. (Source: American Journal of Ophthalmology)
Source: American Journal of Ophthalmology - August 21, 2013 Category: Opthalmology Authors: Abigail T. Fahim, Naheed W. Khan, Sarwar Zahid, Ira H. Schachar, Kari Branham, Susanne Kohl, Bernd Wissinger, Victor M. Elner, John R. Heckenlively, Thiran Jayasundera Tags: Original Articles Source Type: research
Feedback regulation of cone cyclic nucleotide channels by phosphoinositides. Focus on "CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions"
(Source: AJP: Cell Physiology)
Source: AJP: Cell Physiology - July 15, 2013 Category: Cytology Authors: Cioffi, D. L., Rich, T. C. Tags: EDITORIAL FOCUS Source Type: research
CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions
Cyclic nucleotide-gated (CNG) channels are critical for sensory transduction in retinal photoreceptors and olfactory receptor cells; their activity is modulated by phosphoinositides (PIPn) such as phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3). An achromatopsia-associated mutation in cone photoreceptor CNGA3, L633P, is located in a carboxyl (COOH)-terminal leucine zipper domain shown previously to be important for channel assembly and PIPn regulation. We determined the functional consequences of this mutation using electrophysiological recordings of patches excised from cel...
Source: AJP: Cell Physiology - July 15, 2013 Category: Cytology Authors: Dai, G., Varnum, M. D. Tags: ARTICLES Source Type: research
A Naturally Occurring Mouse Model of Achromatopsia: Characterization of the Mutation in Cone Transducin and Subsequent Retinal Phenotype [Retinal Cell Biology]
Conclusions.
The Gnat2c.518A>G mouse contains a missense mutation that results in no cone function due to a misfolding of transducin. Cone photoreceptors also show signs of opsin mislocalization, retinal remodeling and degeneration. This naturally occurring model shows all the hallmark signs of achromatopsia. (Source: Investigative Ophthalmology)
Source: Investigative Ophthalmology - May 9, 2013 Category: Opthalmology Authors: Jobling, A. I., Vessey, K. A., Waugh, M., Mills, S. A., Fletcher, E. L. Tags: Retinal Cell Biology Source Type: research
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia
Conclusion:
We report the occurrence of CNGB3-achromatopsia in a new canine breed, the MAS. The CNGB3-deletion allele previously described in the AM was also observed in a homozygous state in the affected MAS, as well as in a heterozygous carrier state in a Siberian husky and Alaskan sled dogs. All affected alleles were shown to be IBD, strongly suggesting an affected founder effect. Since the MAS is not known to be genetically related to the AM, other breeds may potentially carry the same cd-allele and be affected by achromatopsia. (Source: BMC Genetics - Latest articles)
Source: BMC Genetics - Latest articles - April 20, 2013 Category: Genetics & Stem Cells Authors: Connie YehOrly GoldsteinAnna KukekovaDebbie HolleyAmy KnollingerHeather HusonSusan Pearce-KellingGregory AclandAndrás Komáromy Source Type: research
A comparison among different techniques for human ERG signals processing and classification
Abstract: Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic approaches can be applied but only few are able to deal with signals whose time dependent features provide useful clinical information. Among the biomedical signals, the electroretinogram (ERG), that records the retinal response to a light flash, can improve our comprehension of the complex photoreceptoral activities.The present study is focused on the analysis of the early response of the photoreceptoral human system, known as a-wave ERG-component. This wav...
Source: Physica Medica: European Journal of Medical Physics - April 15, 2013 Category: Journals (General) Authors: R. Barraco, D. Persano Adorno, M. Brai, L. Tranchina Tags: Original Papers Source Type: research
A comparison among different techniques for human ERG signals processing and classification.
Abstract
Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic approaches can be applied but only few are able to deal with signals whose time dependent features provide useful clinical information. Among the biomedical signals, the electroretinogram (ERG), that records the retinal response to a light flash, can improve our comprehension of the complex photoreceptoral activities. The present study is focused on the analysis of the early response of the photoreceptoral human system, known as a-wave ERG-co...
Source: Physica Medica - April 13, 2013 Category: Physics Authors: Barraco R, Persano Adorno D, Brai M, Tranchina L Tags: Phys Med Source Type: research
CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions.
Abstract
Cyclic nucleotide-gated (CNG) channels are critical for sensory transduction in retinal photoreceptors and olfactory receptor cells; their activity is modulated by phosphoinositides (PIPn) such as PIP2 and PIP3. An achromatopsia-associated mutation in cone photoreceptor CNGA3, L633P, is located in a carboxy (C)-terminal leucine zipper domain shown previously to be important for channel assembly and PIPn-regulation. We determined the functional consequences of this mutation using electrophysiological recordings of patches excised from cells expressing wild type and mutant CNG channel subunits. CNGA...
Source: American Journal of Physiology. Cell Physiology - April 3, 2013 Category: Cytology Authors: Dai G, Varnum MD Tags: Am J Physiol Cell Physiol Source Type: research
Is high-resolution spectral domain optical coherence tomography reliable in nystagmus?
Recently, there has been an increased number of studies investigating retinal morphology in infantile nystagmus.1–4 Optical coherence tomography (OCT) studies in achromatopsia have shown progressive retinal changes.1 2 4 Most OCT software limits segmentation to the retinal nerve fibre layer and overall retinal thickness (RT). However, we have shown that outer nuclear layer (ONL), outer segment (OS) and foveal depth (FD) are important measurements in infantile nystagmus.2 5 Intraretinal thicknesses (FD, ONL, inner segment (IS) and OS) can be derived using reflectivity-based segmentation using ImageJ1 (figure 1). Exter...
Source: British Journal of Ophthalmology - March 17, 2013 Category: Opthalmology Authors: Thomas, M. G., Kumar, A., Thompson, J. R., Proudlock, F. A., Straatman, K., Gottlob, I. Tags: Letters Source Type: research
Clinical utility gene card for: Achromatopsia - update 2013
& Christian Hamel (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 13, 2013 Category: Genetics & Stem Cells Authors: Susanne KohlChristian Hamel Source Type: research
Childhood retinal dystrophies: what's in a name?
The multiplicity of underlying genetic defects in childhood retinal dystrophies has become evident in the last two decades. A traditional clinical diagnostic label is easy to assign when the phenotype is clear-cut and matches the original delineation of the dystrophy; this continues to be feasible in most cases, but may be quite difficult in the absence of a molecular diagnosis, especially when the phenotype is on the atypical end of a spectrum. Leber congenital amaurosis (LCA), congenital stationary night blindness (CSNB), achromatopsia, and Stargardt disease are examples of conditions where these terminological conundrum...
Source: British Journal of Ophthalmology - February 15, 2013 Category: Opthalmology Authors: Traboulsi, E. I. Tags: Eye (globe), Muscles, Retina, Vision, Neurology Editorials Source Type: research
Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios
The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research
