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Retinitis pigmentosa

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https://www.readbyqxmd.com/read/28542454/controlled-delivery-of-tauroursodeoxycholic-acid-from-biodegradable-microspheres-slows-retinal-degeneration-and-vision-loss-in-p23h-rats
#1
Laura Fernández-Sánchez, Irene Bravo-Osuna, Pedro Lax, Alicia Arranz-Romera, Victoria Maneu, Sergio Esteban-Pérez, Isabel Pinilla, María Del Mar Puebla-González, Rocío Herrero-Vanrell, Nicolás Cuenca
Successful drug therapies for treating ocular diseases require effective concentrations of neuroprotective compounds maintained over time at the site of action. The purpose of this work was to assess the efficacy of intravitreal controlled delivery of tauroursodeoxycholic acid (TUDCA) encapsulated in poly(D,L-lactic-co-glycolic acid) (PLGA) microspheres for the treatment of the retina in a rat model of retinitis pigmentosa. PLGA microspheres (MSs) containing TUDCA were produced by the O/W emulsion-solvent evaporation technique...
2017: PloS One
https://www.readbyqxmd.com/read/28539581/peripherin-2-and-rom-1-have-opposing-effects-on-rod-outer-segment-targeting-of-retinitis-pigmentosa-linked-peripherin-2-mutants
#2
Sybille Böhm, Lisa M Riedmayr, O N Phuong Nguyen, Andreas Gießl, Toni Liebscher, Elisabeth S Butz, Christian Schön, Stylianos Michalakis, Christian Wahl-Schott, Martin Biel, Elvir Becirovic
Mutations in the photoreceptor outer segment (OS) specific peripherin-2 lead to autosomal dominant retinitis pigmentosa (adRP). By contrast, mutations in the peripherin-2 homolog Rom-1 cause digenic RP in combination with certain heterozygous mutations in peripherin-2. The mechanisms underlying the differential role of peripherin-2 and Rom-1 in RP pathophysiology remained elusive so far. Here, focusing on two adRP-linked peripherin-2 mutants, P210L and C214S, we analyzed the binding characteristics, protein assembly, and rod OS targeting of wild type (per(WT)), mutant peripherin-2 (per(MT)), or Rom-1 complexes, which can be formed in patients heterozygous for peripherin-2 mutations...
May 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28539347/valproic-acid-for-a-treatment-of-retinitis-pigmentosa-reasons-for-optimism-and-caution
#3
Levi Todd, Christopher Zelinka
No abstract text is available yet for this article.
May 24, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28533336/a-coding-variant-in-the-gene-bardet-biedl-syndrome-4-bbs4-is-associated-with-a-novel-form-of-canine-progressive-retinal-atrophy
#4
Tracy Chew, Bianca Haase, Roslyn Bathgate, Cali E Willet, Maria K Kaukonen, Lisa J Mascord, Hannes T Lohi, Claire M Wade
Progressive retinal atrophy is a common cause of blindness in the dog and affects over 100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis pigmentosa, the canine disorder is clinically and genetically heterogeneous and the underlying cause remains unknown for many cases. We use a positional candidate gene approach to identify putative variants in the Hungarian Puli breed using genotyping data of 14 family-based samples (CanineHD BeadChip array, Illumina) and whole genome sequencing data of two proband and two parental samples (Illumina HiSeq 2000)...
May 22, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28532361/electrical-stimulation-of-the-retina-to-produce-artificial-vision
#5
James D Weiland, Steven T Walston, Mark S Humayun
Retinal prostheses aim to restore vision to blind individuals suffering from retinal diseases such as retinitis pigmentosa and age-related macular degeneration. These devices function by electrically stimulating surviving retinal neurons, whose activation is interpreted by the brain as a visual percept. Many prostheses are currently under development. They are categorized as epiretinal, subretinal, and suprachoroidal prostheses on the basis of the placement of the stimulating microelectrode array. Each can activate ganglion cells through direct or indirect stimulation...
October 14, 2016: Annual Review of Vision Science
https://www.readbyqxmd.com/read/28523457/retinal-pigmentary-changes-in-chronic-uveitis-mimicking-retinitis-pigmentosa
#6
D Damla Sevgi, Samaneh Davoudi, Jason Comander, Lucia Sobrin
PURPOSE: To present retinal pigmentary changes mimicking retinitis pigmentosa (RP) as a finding of advanced uveitis. METHODS: We retrospectively reviewed charts of patients without a family history of inherited retinal degenerations who presented with retinal pigment changes and signs of past or present intraocular inflammation. Comprehensive eye examination including best-corrected visual acuity, slit-lamp examination and dilated fundus examination was performed on all patients in addition to color fundus photography, optical coherence tomography, fluorescein angiography (FA), and full-field electroretinogram testing...
May 18, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28522267/synthesis-of-novel-acyl-selenoureido-benzensulfonamides-as-carbonic-anhydrase-i-ii-vii-and-ix-inhibitors
#7
Andrea Angeli, Fabrizio Carta, Gianluca Bartolucci, Claudiu T Supuran
A novel series of acyl selenoureido benzensulfonamides was evaluated as carbonic anhydrase (CA, EC 4.2.1.1) inhibitors against the human (h) isoforms hCA I, II, VII and IX, which are involved in a variety of diseases such as glaucoma, retinitis pigmentosa, epilepsy and tumors etc. These compounds showed excellent inhibitory activity for these isoforms, with several low nanomolar derivatives identified against all of them. Furthermore, the selenoureido group may provide an antioxidant activity to these enzyme inhibitors...
May 9, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28521807/case-report-a-novel-frameshift-mutation-in-the-mitochondrial-cytochrome-c-oxidase-ii-gene-causing-mitochondrial-disorder
#8
Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala, Kari Majamaa
BACKGROUND: Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise intolerance, sensorineural hearing impairment, retinitis pigmentosa, cataract and lactic acidosis...
May 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28515276/assembly-of-the-u5-snrnp-component-prpf8-is-controlled-by-the-hsp90-r2tp-chaperones
#9
Anna Malinová, Zuzana Cvačková, Daniel Matějů, Zuzana Hořejší, Claire Abéza, Franck Vandermoere, Edouard Bertrand, David Staněk, Céline Verheggen
Splicing is catalyzed by the spliceosome, a complex of five major small nuclear ribonucleoprotein particles (snRNPs). The pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome. Using quantitative proteomics, we identified assembly intermediates containing PRPF8, EFTUD2, and SNRNP200 in association with the HSP90/R2TP complex, its ZNHIT2 cofactor, and additional proteins. HSP90 and R2TP bind unassembled U5 proteins in the cytoplasm, stabilize them, and promote the formation of the U5 snRNP...
May 17, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28512428/type-3-neovascularization-associated-with-retinitis-pigmentosa
#10
Jihene Sayadi, Alexandra Miere, Eric H Souied, Salomon Y Cohen
PURPOSE: To report a case of type 3 neovascular lesion in a patient with retinitis pigmentosa (RP) complicated by macular edema. CASE REPORT: A 78-year-old man with a long follow-up for RP was referred for painless visual acuity decrease in the right eye. Best-corrected visual acuity was 20/125 in the right eye and 20/40 in the left. Fundus examination showed typical RP and macular edema in both eyes. In the right eye, spectral domain optical coherence tomography revealed a marked cystic macular edema associated with disruption of the Bruch membrane/retinal pigment epithelium complex overlying a pigmentary epithelium detachment, with a vascular structure which appeared to originate from the deep capillary plexus and to be connected with the subretinal pigment epithelium space...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28512305/mutation-screening-in-genes-known-to-be-responsible-for-retinitis-pigmentosa-in-98-small-han-chinese-families
#11
Lulin Huang, Qi Zhang, Xin Huang, Chao Qu, Shi Ma, Yao Mao, Jiyun Yang, You Li, Yuanfeng Li, Chang Tan, Peiquan Zhao, Zhenglin Yang
Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mutation databases that contain both clinical and genetic information are largely insufficient. In this study, we recruited 98 small Han Chinese families clinically diagnosed as RP, including of 22 dominant, 19 recessive, 52 sporadic, and five X-linked...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28511857/posterior-microphthalmos-retinitis-pigmentosa-and-optic-disc-drusen-with-white-dots-a-case-report
#12
P Plaza, O Iturralde, C Abascal
OBJECTIVE: To present the case of a patient with a posterior microphthalmos-optic disc drusen-retinitis pigmentosa syndrome associated, for the first time, with white dots in the posterior pole. METHODOLOGY: The posterior microphthalmos, retinitis pigmentosa and optic disc drusen syndrome was described for the first time in literature in 1991. Later, it was associated with a pattern of foveal thickening and/or foveoschisis. Different forms of mutations on chromosomes 11 and 14 have been identified as being responsible for the appearance of this syndrome, but the inheritance pattern is unknown...
May 13, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28511025/co-inheritance-of-the-membrane-frizzled-related-protein-ocular-phenotype-and-glycogen-storage-disease-type-ib
#13
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli
AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region...
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28510639/toward-an-elucidation-of-the-molecular-genetics-of-inherited-retinal-degenerations
#14
G Jane Farrar, Matthew Carrigan, Adrian Dockery, Sophia Millington Ward, Arpad Palfi, Naomi Chadderton, Marian Humphries, Anna Sophia Kiang, Paul F Kenna, Pete Humphries
While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive, X-linked recessive, and more rarely in digenic or mitochondrial modes. Today, it is recognized that IRDs, as a group, represent one of the most genetically diverse of hereditary conditions - at least 260 genes having been implicated, with 70 genes identified in the most common IRD, retinitis pigmentosa (RP)...
May 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28509138/juvenile-nephronophthisis-and-dysthyroidism-a-rare-association
#15
Fateme Shamekhi Amiri, Ariana Kariminejad
Nephronophthisis, an autosomal recessive kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. A 27-year-old male was presented with gait imbalance, sever pruritus since 10 days prior time of admission. In past medical history, he had bilateral cataract, torsional nystagmus, and bilateral optic nerve atrophy since 2 years of age. He was also mentioned history of multinodular goiter with dysfunctional thyroid state since 2 years before admission...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28509123/serum-calcitriol-levels-in-a-patient-with-x-linked-hypophosphatemia-complicated-by-autosomal-dominant-polycystic-kidney-disease
#16
Satomi Kajita, Takehisa Yamamoto, Naoko Tsugawa, Hirohumi Nakayama, Takuo Kubota, Toshimi Michigami, Keiichi Ozono
Serum calcitriol [1,25(OH)2D] levels are low normal in the presence of hypophosphatemia in X-linked dominant hypophosphatemic rickets (XLH) due to elevated serum fibroblast growth factor 23 (FGF23) levels. We report a peculiar finding of markedly elevated serum 1,25(OH)2D levels in a patient with XLH complicated by autosomal dominant polycystic kidney disease (ADPKD) and retinitis pigmentosa (RP). She was diagnosed with XLH, ADPKD and RP at the age of 5, 13 and 15 years, respectively. After the diagnosis of ADPKD, the 1,25(OH)2D levels increased up to 282 pg/mL treated with a pharmacological dose of 1αOHD3 (1αOHD3)...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28503441/applications-of-crispr-cas9-in-retinal-degenerative-diseases
#17
REVIEW
Ying-Qian Peng, Luo-Sheng Tang, Shigeo Yoshida, Ye-Di Zhou
Gene therapy is a potentially effective treatment for retinal degenerative diseases. Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) system has been developed as a new genome-editing tool in ophthalmic studies. Recent advances in researches showed that CRISPR/Cas9 has been applied in generating animal models as well as gene therapy in vivo of retinitis pigmentosa (RP) and leber congenital amaurosis (LCA). It has also been shown as a potential attempt for clinic by combining with other technologies such as adeno-associated virus (AAV) and induced pluripotent stem cells (iPSCs)...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28498263/cochlear-implantation-in-patients-with-usher-syndrome-type-iia-increases-performance-and-quality-of-life
#18
Bas P Hartel, Josephine W I van Nierop, Wendy J Huinck, Liselotte J C Rotteveel, Emmanuel A M Mylanus, Ad F Snik, Henricus P M Kunst, Ronald J E Pennings
OBJECTIVES: Usher syndrome type IIa (USH2a) is characterized by congenital moderate to severe hearing impairment and retinitis pigmentosa. Hearing rehabilitation starts in early childhood with the application of hearing aids. In some patients with USH2a, severe progression of hearing impairment leads to insufficient speech intelligibility with hearing aids and issues with adequate communication and safety. Cochlear implantation (CI) is the next step in rehabilitation of such patients...
May 11, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28497078/joubert-syndrome-misleading-presentation-of-two-cases-as-pseudo-tumor-cerebri-and-literature-review
#19
Farrokh Seylanian Toosi, Samineh Boloursaz, Bita Abbasi, Reza Hekmat, Reihaneh Mortazavi Ardestani, Mina Mohajerzadeh
Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transplant years ago without the true diagnosis of the disorder. Brain imaging revealed the classic "molar tooth sign" appearance, and clinical evaluation established the diagnosis for both of the siblings. Imaging should be done to evaluate the neuroradiological findings of Joubert syndrome...
2017: Journal of Renal Injury Prevention
https://www.readbyqxmd.com/read/28493650/pro-survival-redox-signalling-in-progesterone-mediated-retinal-neuroprotection
#20
Ana M Ruiz Lopez, Sarah L Roche, Alice C Wyse Jackson, Jennifer N Moloney, Ashleigh M Byrne, Thomas G Cotter
Retinitis pigmentosa (RP) is a group of hereditary retinal diseases, characterised by photoreceptor cell loss. Despite a substantial understanding of the mechanisms leading to cell death, an effective therapeutic strategy is sought. Our laboratory has previously demonstrated the neuroprotective properties of Norgestrel, a progesterone analogue, in the degenerating retina, mediated in part by the neurotrophic factor basic fibroblast growth factor (bFGF). In other retinal studies, we have also presented a pro-survival role for reactive oxygen species (ROS), downstream of bFGF...
May 11, 2017: European Journal of Neuroscience
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