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Retinitis pigmentosa

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https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#1
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28730077/proteomic-profiling-of-early-degenerative-retina-of-rcs-rats
#2
Zhi-Hong Zhu, Yan Fu, Chuan-Huang Weng, Cong-Jian Zhao, Zheng-Qin Yin
AIM: To identify the underlying cellular and molecular changes in retinitis pigmentosa (RP). METHODS: Label-free quantification-based proteomics analysis, with its advantages of being more economic and consisting of simpler procedures, has been used with increasing frequency in modern biological research. Dystrophic RCS rats, the first laboratory animal model for the study of RP, possess a similar pathological course as human beings with the diseases. Thus, we employed a comparative proteomics analysis approach for in-depth proteome profiling of retinas from dystrophic RCS rats and non-dystrophic congenic controls through Linear Trap Quadrupole - orbitrap MS/MS, to identify the significant differentially expressed proteins (DEPs)...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28725290/the-discovery-of-the-flammer-syndrome-a-historical-and-personal-perspective
#3
REVIEW
Josef Flammer, Katarzyna Konieczka
This review describes the clinical and basic research that led to the description of Flammer syndrome. It is narrated from a personal perspective. This research was initiated by the observation of an increased long-term fluctuation of visual fields in a subgroup of glaucoma patients. As these patients had strikingly cold hands, peripheral blood flow was tested with a capillary microscopy, and vasospastic syndrome (VS) was diagnosed. Further studies on these patients revealed frequently weakened autoregulation of ocular blood flow and increased flow resistivity in retroocular vessels...
June 2017: EPMA Journal
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#4
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28720880/pattern-of-retinal-morphological-and-functional-decay-in-a-light-inducible-rhodopsin-mutant-mouse
#5
Claudia Gargini, Elena Novelli, Ilaria Piano, Martina Biagioni, Enrica Strettoi
Hallmarks of Retinitis Pigmentosa (RP), a family of genetic diseases, are a typical rod-cone-degeneration with initial night blindness and loss of peripheral vision, followed by decreased daylight sight and progressive visual acuity loss up to legal blindness. Great heterogeneity in nature and function of mutated genes, variety of mutations for each of them, variability in phenotypic appearance and transmission modality contribute to make RP a still incurable disease. Translational research relies on appropriate animal models mimicking the genetic and phenotypic diversity of the human pathology...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715844/effects-of-pathogenic-variations-in-the-human-rhodopsin-gene-hrho-on-the-predicted-accessibility-for-a-lead-candidate-ribozyme
#6
Beau R Froebel, Alexandria J Trujillo, Jack M Sullivan
Purpose: The mutation-independent strategy for hammerhead ribozyme (hhRz) or RNA interference (RNAi)-based gene therapeutics to treat autosomal dominant diseases is predicated on the hypothesis that a single therapeutic would equivalently suppress all/most of the diverse mutant mRNAs in patients with the disease phenotype. However, the hypothesis has not been formally tested. We address this through a comprehensive bioinformatics study of how mutations affect target mRNA structure accessibility for a single lead hhRz therapeutic (725GUC↓), designed against human rod rhodopsin mRNA (hRHO), for patients with hRHO mutations that cause autosomal dominant retinitis pigmentosa...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28709891/neuroprotective-effects-of-methyl-3-4-dihydroxybenzoate-in-a-mouse-model-of-retinitis-pigmentosa
#7
Jia Zhang, Di Xu, Huan Ouyang, Songhui Hu, Ang Li, Huanmin Luo, Ying Xu
Retinitis pigmentosa is a photoreceptor-degenerative disease that is currently untreatable and eventually causes blindness. Methyl 3,4 dihydroxybenzoate (MDHB) is a small molecule that exerts neuroprotective effect in vitro. The present study tests whether MDHB protects the retina of rd10 mice, a model of retinitis pigmentosa. MDHB or equal volume of vehicle was intraperitoneally injected in rd10 mice daily from postnatal day 12 (P12) to P26. Retinal morphology was evaluated by immunostaining, and retinal function by electroretinogram (ERG) and by visual behavior...
July 11, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28707069/variants-in-the-prpf8-gene-are-associated-with-glaucoma
#8
Shazia Micheal, Barend F Hogewind, Muhammad Imran Khan, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Farah Akhtar, Raheel Qamar, Carel B Hoyng, Anneke I den Hollander
Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma. Whole exome sequencing (WES) was performed on DNA of two affected individuals, and predicted pathogenic variants were evaluated for segregation in four affected and three unaffected Dutch family members by Sanger sequencing...
July 13, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28704921/eys-mutations-causing-autosomal-recessive-retinitis-pigmentosa-changes-of-retinal-structure-and-function-with-disease-progression
#9
David B McGuigan, Elise Heon, Artur V Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J Roman, Vaishnavi Batmanabane, Alexandra V Garafalo, Edwin M Stone, Anand Swaroop, Samuel G Jacobson
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure...
July 12, 2017: Genes
https://www.readbyqxmd.com/read/28703796/p75-ntr-antagonists-attenuate-photoreceptor-cell-loss-in-murine-models-of-retinitis-pigmentosa
#10
María Platón-Corchado, Pablo F Barcelona, Sean Jmaeff, Miguel Marchena, Alberto M Hernández-Pinto, Catalina Hernández-Sánchez, H Uri Saragovi, Enrique J de la Rosa
ProNGF signaling through p75(NTR) has been associated with neurodegenerative disorders. Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies that causes progressive photoreceptor cell degeneration and death, at a rate dependent on the genetic mutation. There are more than 300 mutations causing RP, and this is a challenge to therapy. Our study was designed to explore a common mechanism for p75(NTR) in the progression of RP, and assess its potential value as a therapeutic target. The proNGF/p75(NTR) system is present in the dystrophic retina of the rd10 RP mouse model...
July 13, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28696540/conserved-hydrophobic-residues-in-the-carp-%C3%AE-sheet-domain-of-cyclase-associated-protein-are-involved-in-actin-monomer-regulation
#11
Shohei Iwase, Shoichiro Ono
Cyclase-associated protein (CAP) is a multi-domain protein that promotes actin filament dynamics. The C-terminal region of CAP contains a CAP and X-linked retinitis pigmentosa 2 protein (CARP) domain (or a β-sheet domain), which binds to actin monomer and is essential for enhancing exchange of actin-bound nucleotides. However, how the CARP domain binds to actin is not clearly understood. Here, we report that conserved hydrophobic residues in the CARP domain play important roles in the function of CAP to regulate actin dynamics...
July 11, 2017: Cytoskeleton
https://www.readbyqxmd.com/read/28688563/a-novel-mutation-in-the-myo7a-gene-is-associated-with-usher-syndrome-type-1-in-a-chinese-family
#12
Xiaoguang He, Qi Peng, Siping Li, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jingqi Lin, Xiaomei Lu
OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. METHODS: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. RESULTS: The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28685406/leber-s-congenital-amaurosis-and-gene-therapy
#13
Brijesh Takkar, Pooja Bansal, Pradeep Venkatesh
Retinal blindness is an important cause of pediatric visual loss. Leber's congenital amaurosis (LCA) is one of these causes, often wrongly included in the spectrum of retinitis pigmentosa. The disease has become the center of research after initial reports of success in management with gene therapy. This review discusses in brief the clinical presentation and investigative modalities used in LCA. Further, the road to gene discovery and details of currently applied gene therapy are presented. LCA is one of the first successfully managed human diseases and offers an entirely new dimension in ocular therapeutics...
July 7, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28678594/visual-outcomes-in-japanese-patients-with-retinitis-pigmentosa-and-usher-syndrome-caused-by-ush2a-mutations
#14
Yasunori Nagase, Kentaro Kurata, Katsuhiro Hosono, Kimiko Suto, Akiko Hikoya, Hiroshi Nakanishi, Kunihiro Mizuta, Hiroyuki Mineta, Shinsei Minoshima, Yoshihiro Hotta
PURPOSE: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). METHODS: Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations...
July 5, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28677533/generation-of-a-human-ipsc-line-from-a-patient-with-retinitis-pigmentosa-caused-by-mutation-in-prpf8-gene
#15
Dunja Lukovic, Aranzazu Bolinches Amoros, Ana Artero Castro, Beatriz Pascual, Miguel Carballo, Imma Hernán, Slaven Erceg
The human iPSC cell line, RP2-FiPS4F1 (RCPFi001-A), derived from dermal fibroblasts from the patient with retinitis pigmentosa caused by the mutation of the gene PRPF8, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors.
May 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28676737/gene-therapy-in-a-large-animal-model-of-pde6a-retinitis-pigmentosa
#16
Freya M Mowat, Laurence M Occelli, Joshua T Bartoe, Kristen J Gervais, Ashlee R Bruewer, Janice Querubin, Astra Dinculescu, Sanford L Boye, William W Hauswirth, Simon M Petersen-Jones
Despite mutations in the rod phosphodiesterase 6-alpha (PDE6A) gene being well-recognized as a cause of human retinitis pigmentosa, no definitive treatments have been developed to treat this blinding disease. We performed a trial of retinal gene augmentation in the Pde6a mutant dog using Pde6a delivery by capsid-mutant adeno-associated virus serotype 8, previously shown to have a rapid onset of transgene expression in the canine retina. Subretinal injections were performed in 10 dogs at 29-44 days of age, and electroretinography and vision testing were performed to assess functional outcome...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28663330/gene-of-the-month-prpf31
#17
REVIEW
Anna M Rose, Rong Luo, Utsav K Radia, Shomi S Bhattacharya
Pre-mRNA splicing is an essential process in eukaryotic cells where the transcribed intronic sequences are removed, prior to translation into protein. PRPF31 is a ubiquitously expressed splicing factor, which aids in the assembly of the macromolecular spliceosome. Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa (adRP), a form of retinal degeneration that causes progressive visual impairment. Interestingly, mutations in PRPF31 are non-penetrant, with some mutation carriers being phenotypically unaffected...
June 29, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28660276/determining-the-contribution-of-retinotopic-discrimination-to-localization-performance-with-a-suprachoroidal-retinal-prosthesis
#18
Matthew A Petoe, Chris D McCarthy, Mohit N Shivdasani, Nicholas C Sinclair, Adele F Scott, Lauren N Ayton, Nick M Barnes, Robyn H Guymer, Penelope J Allen, Peter J Blamey
Purpose: With a retinal prosthesis connected to a head-mounted camera, subjects can perform low vision tasks using a combination of electrode discrimination and head-directed localization. The objective of the present study was to investigate the contribution of retinotopic electrode discrimination (perception corresponding to the arrangement of the implanted electrodes with respect to their position beneath the retina) to visual performance for three recipients of a 24-channel suprachoroidal retinal implant...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28653555/usher-s-syndrome-type-ii-a-comparative-study-of-genetic-mutations-and-vestibular-system-evaluation
#19
Giuseppe Magliulo, Giannicola Iannella, Silvia Gagliardi, Nicola Iozzo, Rocco Plateroti, Alessandro Mariottini, Francesca Torricelli
Objective Usher's syndrome type II (USH2) is characterized by moderate to profound congenital hearing loss, later onset of retinitis pigmentosa, and normal vestibular function. Recently, a study investigating the vestibular function of USH2 patients demonstrated a pathologic response to vestibular tests. In this cross-sectional study we performed vestibular tests of a group patients with genetic diagnosis of USH2 syndrome to demonstrate if vestibular damage is present in USH2 patients. Study Design Cross-sectional study...
June 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28644158/radiology-case-of-the-month-idiopathic-cd4-lymphocytopenia
#20
Chris Malone, Neel D Gupta, Amit Kothari, Enrique Palacios, Harold Neitzschman
A 39 year-old male with a history of diabetes, retinitis pigmentosa, and genital warts presented with intractable occipital headaches accompanied with nausea and vomiting. The patient had markedly depressed CD4 counts. Furthermore the patient tested negative for HIV and HTLV 1/2 and had normal immunoglobulin levels. During hospital course the patient underwent a lumbar puncture and multiple imaging exams, including both CT and MR. Except for occasional nausea and vomiting controlled by therapeutic lumbar punctures, phenergan, and dilaudid the patient's hospital course was uncomplicated...
May 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
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