scholarly journals TUDCA Slows Retinal Degeneration in Two Different Mouse Models of Retinitis Pigmentosa and Prevents Obesity in Bardet-Biedl Syndrome Type 1 Mice

2012 ◽  
Vol 53 (1) ◽  
pp. 100 ◽  
Author(s):  
Arlene V. Drack ◽  
Alina V. Dumitrescu ◽  
Sajag Bhattarai ◽  
Daniel Gratie ◽  
Edwin M. Stone ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Degeneration ◽  
Mouse Models ◽  
Syndrome Type ◽  
Bardet Biedl Syndrome

scholarly journals Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

2020 ◽  
Vol 20 ◽  
pp. 100914
Author(s):  
Sofia M. Muns ◽  
Lorena A. Montalvo ◽  
Jose G. Vargas Del Valle ◽  
Meliza Martinez ◽  
Armando L. Oliver ◽  
...  
Keyword(s):  
Image Analysis ◽  
Clinical Characteristics ◽  
Syndrome Type ◽  
Fundus Image ◽  
Bardet Biedl Syndrome

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

2015 ◽  
Vol 99 (11) ◽  
pp. 1536-1542 ◽  
Author(s):  
Serge Bourgault ◽  
Catherine Baril ◽  
Ajoy Vincent ◽  
Elise Héon ◽  
Asim Ali ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Case Series ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals Subretinal Gene Therapy of Mice With Bardet-Biedl Syndrome Type 1

2013 ◽  
Vol 54 (9) ◽  
pp. 6118 ◽  
Author(s):  
Seongjin Seo ◽  
Robert F. Mullins ◽  
Alina V. Dumitrescu ◽  
Sajag Bhattarai ◽  
Daniel Gratie ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Syndrome Type ◽  
Bardet Biedl Syndrome

Pleiotropy of a Stickler syndrome genotype

2021 ◽  
pp. 112067212110356
Author(s):  
Ahmad Baiyasi ◽  
Joshua Barbosa ◽  
Anthony Parendo ◽  
Xihui Lin
Keyword(s):  
Alternative Splicing ◽  
Retinitis Pigmentosa ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Col2a1 Gene ◽  
A Site

Purpose: To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1. Observations: A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype. Conclusions: The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.

Increased TRPM-2/clusterin mRNA levels during the time of retinal degeneration in mouse models of retinitis pigmentosa

1994 ◽  
Vol 72 (9-10) ◽  
pp. 439-446 ◽  
Author(s):  
Paul Wong ◽  
Diane E. Borst ◽  
Debora Farber ◽  
Janet S. Danciger ◽  
Martin Tenniswood ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Degeneration ◽  
Mouse Models ◽  
Time Course ◽  
Cell Loss ◽  
Northern Analysis ◽  
Visual Cell ◽  
Mrna Levels ◽  
Human Disorders ◽  
Clusterin Expression

Retinitis pigmentosa (RP) is a genetically and clinically heterogeneous group of human disorders that is characterized by diminished retinal function, visual cell loss, and blindness. Elevated levels of TRPM-2/clusterin mRNA, a marker for the apoptotic process, have been reported in retinas from patients with advanced stage RP. In the present study we examine TRPM-2/clusterin expression in two genetically distinct mouse models of RP, the rd (retinal degeneration) and rds (retinal degeneration slow) mice. We establish that in advanced postretinal degenerative stages of the rd mutant the retinal TRPM-2/clusterin mRNA levels are highly elevated, as is seen in the case of human RP. Examination of TRPM-2/clusterin mRNA levels in retina and whole eyes from the rd mouse and morphologically normal controls during the period of retinal degeneration (postnatal days 8–21) in the rd phenotype shows that TRPM-2/clusterin mRNA levels are elevated in the rd animal, and this increase begins just after postnatal day 10 and remains high for the remainder of the time course examined. Northern analysis of rds retina and whole eyes shows a delayed increase in TRPM-2/clusterin mRNA levels relative to the rd profile, coinciding with the known period of rds retinal degeneration (postnatal day 14 to 1 year). In each case, the onset of increased TRPM-2/clusterin mRNA levels coincides with the time of photoreceptor cell death.Key words: retinal degeneration, TRPM-2, clusterin, apoptosis, retinitis pigmentosa.

scholarly journals Ciliary Genes arl13b, ahi1 and cc2d2a Differentially Modify Expression of Visual Acuity Phenotypes but do not Enhance Retinal Degeneration due to Mutation of cep290 in Zebrafish

2019 ◽  
Author(s):  
Emma M. Lessieur ◽  
Ping Song ◽  
Gabrielle C. Nivar ◽  
Ellen M. Piccillo ◽  
Joseph Fogerty ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Degeneration ◽  
Joubert Syndrome ◽  
Genetic Modifiers ◽  
Photoreceptor Degeneration ◽  
Optokinetic Response ◽  
Bardet Biedl Syndrome ◽  
Leber Congenital Amaurosis ◽  
Outer Segments ◽  
Rhodopsin Kinase

ABSTRACTMutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA) and retinitis pigmentosa. Results from model organisms and human genetics studies, have suggest that mutations in genes encoding protein components of the transition zone (TZ) and other cilia-associated proteins can function as genetic modifiers and be a source for CEP290 pleiotropy. We investigated the zebrafish cep290fh297/fh297 mutant, which encodes a nonsense mutation (p.Q1217*). This mutant is viable as adults, exhibits scoliosis, and undergoes a slow, progressive cone degeneration. The cep290fh297/fh297 mutants showed partial mislocalization of the transmembrane protein rhodopsin but not of the prenylated proteins rhodopsin kinase (GRK1) or the rod transducin subunit GNB1. Surprisingly, photoreceptor degeneration did not trigger proliferation of Müller glia, but proliferation of rod progenitors in the outer nuclear layer was significantly increased. To determine if heterozygous mutations in other cilia genes could exacerbate retinal degeneration, we bred cep290fh297/fh297 mutants to arl13b, ahi1, and cc2d2a mutant zebrafish lines. While cep290fh297/fh297 mutants lacking a single allele of these genes did not exhibit accelerated photoreceptor degeneration, loss of one alleles of arl13b or ahi1 reduced visual performance in optokinetic response assays at 5 days post fertilization. Our results indicate that the cep290fh297/fh297 mutant is a useful model to study the role of genetic modifiers on photoreceptor degeneration in zebrafish and to explore how progressive photoreceptor degeneration influences regeneration in adult zebrafish.Nonstandard abbreviationsBBSBardet-Biedl SyndromeCOScone outer segmentsDpfDays post fertilizationGNB1rod transducin β subunitGRK1rhodopsin kinaseJTBSJoubert SyndromeLCALeber Congenital AmaurosisMKSMeckel SyndromeNPHPnephronophthisisOKRoptokinetic responsePNApeanut agglutinin lectinROSrod outer segmentsRP2Retinitis Pigmentosa 2

scholarly journals Augmentation of CD47-SIRPα signaling protects cones in genetic models of retinal degeneration

2021 ◽  
Author(s):  
Sean K. Wang ◽  
Yunlu Xue ◽  
Constance L. Cepko
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Degeneration ◽  
Mouse Models ◽  
Treatment Strategy ◽  
Visual Function ◽  
Regulatory Protein ◽  
Gene Replacement ◽  
Retinal Diseases ◽  
Potential Treatment ◽  
Microglial Phagocytosis

ABSTRACTInherited retinal diseases such as retinitis pigmentosa (RP) can be caused by thousands of different mutations, a small number of which have been successfully treated with gene replacement. However, this approach has yet to scale and may be infeasible in many cases, highlighting the need for interventions that could benefit more patients. Here, we found that microglial phagocytosis is upregulated during cone degeneration in RP, suggesting that expression of “don’t eat me” signals such as CD47 might confer protection to cones. To test this, we delivered an adeno-associated viral (AAV) vector expressing CD47 on cones, which promoted cone survival in three mouse models of RP and preserved visual function. Cone rescue with CD47 required signal regulatory protein alpha (SIRPα) but not microglia or thrombospondin-1 (TSP1), suggesting that CD47 interacts with SIRPα on non-microglial cells to alleviate degeneration. These findings establish augmentation of CD47-SIRPα signaling as a potential treatment strategy for RP and possibly other forms of neurodegeneration.

Challenges in the Diagnostic Conceptualization of CRPS-1 (Formerly Conceptualized as RSD)

2006 ◽  
Vol 11 (2) ◽  
pp. 1-3, 9-12
Author(s):  
Robert J. Barth ◽  
Tom W. Bohr
Keyword(s):  
Clinical Practice ◽  
Complex Regional Pain Syndrome ◽  
Somatoform Disorders ◽  
International Association ◽  
Pain Syndrome ◽  
Somatoform Disorder ◽  
Syndrome Type ◽  
Previous Issue

Abstract From the previous issue, this article continues a discussion of the potentially confusing aspects of the diagnostic formulation for complex regional pain syndrome type 1 (CRPS-1) proposed by the International Association for the Study of Pain (IASP), the relevance of these issues for a proposed future protocol, and recommendations for clinical practice. IASP is working to resolve the contradictions in its approach to CRPS-1 diagnosis, but it continues to include the following criterion: “[c]ontinuing pain, which is disproportionate to any inciting event.” This language only perpetuates existing issues with current definitions, specifically the overlap between the IASP criteria for CRPS-1 and somatoform disorders, overlap with the guidelines for malingering, and self-contradiction with respect to the suggestion of injury-relatedness. The authors propose to overcome the last of these by revising the criterion: “[c]omplaints of pain in the absence of any identifiable injury that could credibly account for the complaints.” Similarly, the overlap with somatoform disorders could be reworded: “The possibility of a somatoform disorder has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a somatoform scenario.” The overlap with malingering could be addressed in this manner: “The possibility of malingering has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a malingering scenario.” The article concludes with six recommendations, and a sidebar discusses rating impairment for CRPS-1 (with explicit instructions not to use the pain chapter for this purpose).

Management of Complex Regional Pain Syndrome Type 1 with Barbiturate Coma Therapy -A case report-

2006 ◽  
Vol 19 (2) ◽  
pp. 213
Author(s):  
Tae Kyu Park ◽  
Kyung Ream Han ◽  
Dong Wook Shin ◽  
Young Joo Lee ◽  
Chan Kim
Keyword(s):  
Case Report ◽  
Complex Regional Pain Syndrome ◽  
Pain Syndrome ◽  
Syndrome Type ◽  
Barbiturate Coma
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