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Retinal dystrophy

Mark A P Fajgenbaum, Nick Kopsachilis, Emma J Hollick
PURPOSE: To report surgical outcomes and endothelial cell density (ECD) trends up to 2 years post-operatively in the first cohort of eyes undergoing Descemet's membrane endothelial keratoplasty (DMEK) for low-to-moderate risk indications at our UK centre. Tight corneal sutures were used to ensure high intraoperative pressure from intracameral air for 10-min and to maintain a good post-operative air fill. Outcomes were compared to a prior series at our unit of similar eyes having Descemet's stripping endothelial keratoplasty (DSEK)...
June 19, 2018: Eye
Ian M MacDonald, Paul A Sieving
PURPOSE: To test the effect of docosahexanoic acid (DHA) dietary supplementation on macular function in patients with Stargardt disease. MATERIALS AND METHODS: A single center, double-masked, randomized placebo-controlled trial of 11 subjects (2 males, 9 females) with Stargardt disease in a crossover design (NCT00060749). Six participants were randomized to two sequences of three month periods of DHA supplementation (2000 mg/day) followed by three months of placebo...
June 18, 2018: Ophthalmic Genetics
Karim Ben M'Barek, Walter Habeler, Olivier Goureau, Christelle Monville
No abstract text is available yet for this article.
May 2018: Médecine Sciences: M/S
Basel Turki Baarah, Raed Ali Shatnawi, Ahmed Essa Khatatbeh
PURPOSE: To report the causes of permanent severe visual impairment and blindness among Jordanian blind people. MATERIALS AND METHODS: This study was conducted on 1422 legally blind or worse vision people of all ages who attended the ophthalmic division of a medical committee for evaluation of disabled persons from July 2013 through November 2014. They were divided into two age groups: adult group (998 cases) and childhood group (<16 years, 424 cases). Patients presented reports from their ophthalmologists detailing their eye examination including best-corrected visual acuity, slit-lamp examinations, and if applicable, intraocular pressure, dilated ophthalmoscopy, and visual field and the primary cause of visual impairment...
January 2018: Middle East African Journal of Ophthalmology
Shilei Jia, Jun Yang, Tingyan He, Weibin Li, Xianze Luo, Yanyan Huang, Chengrong Li
OBJECTIVE: To explore the clinical characteristics of a patient with Sensenbrenner syndrome (also called cranioectodermal dysplasia type 3) caused by mutation of intraflagellar transport (IFT) 43 gene. METHODS: The clinical data of the patient was retrospectively analyzed. The target genes was the patient were captured and subjected to next generation sequencing. Suspected mutations were verified through Sanger sequencing. RESULTS: The patient, a-13 year-and-5-month-old girl, was admitted for anemia and renal dysfunction for 8 months...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Peter M Quinn, C Henrique Alves, Jan Klooster, Jan Wijnholds
The mammalian apical-basal determinant Crumbs homolog-1 (CRB1) plays a crucial role in retinal structure and function by the maintenance of adherens junctions between photoreceptors and Müller glial cells. Patients with mutations in the CRB1 gene develop retinal dystrophies, including early-onset retinitis pigmentosa and Leber congenital amaurosis. Previously, we showed that Crb1 knockout mice developed a slow-progressing retinal phenotype at foci in the inferior retina, whiles specific ablation of Crb2 in immature photoreceptors lead to an early-onset phenotype throughout the retina...
June 8, 2018: Human Molecular Genetics
Christine L Xu, Galaxy Y Cho, Jesse D Sengillo, Karen S Park, Vinit B Mahajan, Stephen H Tsang
In recent years, there has been accelerated growth of clustered regularly interspaced short palindromic repeats (CRISPR) genome surgery techniques. Genome surgery holds promise for diseases for which a cure currently does not exist. In the field of ophthalmology, CRISPR offers possibilities for treating inherited retinal dystrophies. The retina has little regenerative potential, which makes treatment particularly difficult. For such conditions, CRISPR genome surgery methods have shown great potential for therapeutic applications in animal models of retinal dystrophies...
2018: Frontiers in Cell and Developmental Biology
Mark E Pennesi, Richard G Weleber, Paul Yang, Chris Whitebirch, Beverly Thean, Terence R Flotte, Margaret Humphries, Elvira Chegarnov, Kathleen N Beasley, Jt Timothy Stout, Jeffrey David Chulay
PURPOSE: We previously reported results at 2 years after subretinal injection of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in 8 adults and 4 children with retinal degeneration caused by RPE65 mutations. We now report results at 5 years after treatment in 11 of these subjects. METHODS: Subjects received a subretinal injection of rAAV2-CB-hRPE65 in the poorer-seeing eye, at either of two dose levels, and were followed for 5 years after treatment...
June 5, 2018: Human Gene Therapy
Marcos Rubio-Fernández, Mary Luz Uribe, Javier Vicente-Tejedor, Francisco Germain, Cristina Susín-Lara, Cristina Quereda, Lluis Montoliu, Pedro de la Villa, José Martín-Nieto, Jesús Cruces
Hypoglycosylation of α-dystroglycan (α-DG) resulting from deficiency of protein O-mannosyltransferase 1 (POMT1) may cause severe neuromuscular dystrophies with brain and eye anomalies, named dystroglycanopathies. The retinal involvement of these disorders motivated us to generate a conditional knockout (cKO) mouse experiencing a Pomt1 intragenic deletion (exons 3-4) during the development of photoreceptors, mediated by the Cre recombinase expressed from the cone-rod homeobox (Crx) gene promoter. In this mouse, retinal α-DG was unglycosylated and incapable of binding laminin...
June 4, 2018: Scientific Reports
Koji M Nishiguchi, Yu Yokoyama, Hiroshi Kunikata, Toshiaki Abe, Toru Nakazawa
BACKGROUND/AIMS: To investigate the relationship between aqueous flare, visual function and macular structures in retinitis pigmentosa (RP). METHODS: Clinical data from 123 patients with RP (227 eyes), 35 patients with macular dystrophy (68 eyes) and 148 controls (148 eyes) were analysed. The differences in aqueous flare between clinical entities and the correlation between aqueous flare (measured with a laser flare cell meter) versus visual acuity, visual field area (Goldmann perimetry) and macular thickness (optical coherence tomography) in patients with RP were determined...
June 1, 2018: British Journal of Ophthalmology
Ander Anasagasti, Maitane Ezquerra-Inchausti, Olatz Barandika, Maider Muñoz-Culla, María M Caffarel, David Otaegui, Adolfo López de Munain, Javier Ruiz-Ederra
Purpose: The aim of this study was to identify differentially expressed microRNAs (miRNAs) that might play an important role in the etiology of retinal degeneration in a genetic mouse model of retinitis pigmentosa (rd10 mice) at initial stages of the disease. Methods: miRNAs-mRNA interaction networks were generated for analysis of biological pathways involved in retinal degeneration. Results: Of more than 1900 miRNAs analyzed, we selected 19 miRNAs on the basis of (1) a significant differential expression in rd10 retinas compared with control samples and (2) an inverse expression relationship with predicted mRNA targets involved in biological pathways relevant to retinal biology and/or degeneration...
May 1, 2018: Investigative Ophthalmology & Visual Science
Norman Waugh, Emma Loveman, Jill Colquitt, Pamela Royle, Jian Lee Yeong, Geraldine Hoad, Noemi Lois
BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of visual loss in older people. Advanced AMD takes two forms, neovascular (wet) and atrophic (dry). Stargardt disease (STGD) is the commonest form of inherited macular dystrophy. OBJECTIVE: To carry out a systematic review of treatments for dry AMD and STGD, and to identify emerging treatments where future NIHR research might be commissioned. DESIGN: Systematic review...
May 2018: Health Technology Assessment: HTA
Simona Torriano, Nejla Erkilic, David Baux, Nicolas Cereso, Valerie De Luca, Isabelle Meunier, Mariya Moosajee, Anne-Francoise Roux, Christian P Hamel, Vasiliki Kalatzis
Inherited retinal dystrophies (IRDs) are caused by mutations in over 200 genes, resulting in a range of therapeutic options. Translational read-through inducing drugs (TRIDs) offer the possibility of treating multiple IRDs regardless of the causative gene. TRIDs promote ribosomal misreading of premature stop codons, which results in the incorporation of a near-cognate amino acid to produce a full-length protein. The IRD choroideremia (CHM) is a pertinent candidate for TRID therapy, as nonsense variants cause 30% of cases...
May 29, 2018: Scientific Reports
Katsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, Satoshi Katagiri, Hirotomo Saitsu, Kentaro Kurata, Daisuke Miyamichi, Akiko Hikoya, Kei Mizobuchi, Tadashi Nakano, Shinsei Minoshima, Maki Fukami, Hiroyuki Kondo, Miho Sato, Takaaki Hayashi, Noriyuki Azuma, Yoshihiro Hotta
Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy (IRD). The present study reports the mutation spectra and frequency of known LCA and IRD-associated genes in 34 Japanese families with LCA (including three families that were previously reported). A total of 74 LCA- and IRD-associated genes were analysed via targeted-next generation sequencing (TS), while recently discovered LCA-associated genes, as well as known variants not able to be screened using this approach, were evaluated via additional Sanger sequencing, long-range polymerase chain reaction, and/or copy number variation analyses...
May 29, 2018: Scientific Reports
Xue Chen, Xunlun Sheng, Yani Liu, Zili Li, Xiantao Sun, Chao Jiang, Rui Qi, Shiqin Yuan, Xuhui Wang, Ge Zhou, Yanyan Zhen, Ping Xie, Qinghuai Liu, Biao Yan, Chen Zhao
BACKGROUND: Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy presenting remarkable genetic heterogeneity. Genetic annotations would help with better clinical assessments and benefit gene therapy, and therefore should be recommended for RP patients. This report reveals the disease causing mutations in two RP pedigrees with confusing inheritance patterns using whole exome sequencing (WES). METHODS: Twenty-five participants including eight patients from two families were recruited and received comprehensive ophthalmic evaluations...
May 29, 2018: Journal of Translational Medicine
William A Pearce, Rui Chen, Nieraj Jain
PURPOSE: To describe the clinical features of a unique pigmentary maculopathy noted in the setting of chronic exposure to pentosan polysulfate sodium (PPS), a therapy for interstitial cystitis (IC). DESIGN: Retrospective case series. PARTICIPANTS: Six adult patients evaluated by a single clinician between May 1, 2015, and October 1, 2017. METHODS: Patients were identified by query of the electronic medical record system...
May 22, 2018: Ophthalmology
Peter Charbel Issa, Peggy Reuter, Laura Kühlewein, Johannes Birtel, Martin Gliem, Anke Tropitzsch, Katherine L Whitcroft, Hanno J Bolz, Kenji Ishihara, Robert E MacLaren, Susan M Downes, Akio Oishi, Eberhart Zrenner, Susanne Kohl, Thomas Hummel
Importance: Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause. Objective: To report olfactory function and the retinal phenotype in patients with biallelic mutations in CNGB1, a gene coding for a signal transduction channel subunit expressed in rod photoreceptors and olfactory sensory neurons. Design, Setting, and Participants: This case series was conducted from August 2015 through July 2017...
May 24, 2018: JAMA Ophthalmology
Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population. STUDY DESIGN: Evaluation of diagnostic technology, Prospective, Clinical and experimental study...
May 21, 2018: Japanese Journal of Ophthalmology
A Pascarella, G Ferrandino, S C Credendino, C Moccia, F D'Angelo, B Miranda, C D'Ambrosio, P Bielli, O Spadaro, M Ceccarelli, A Scaloni, C Sette, M De Felice, G De Vita, E Amendola
DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, while heterozygous mutations represent candidate pathogenic events for myeloproliferative disorders. Despite widespread expression and involvement in human diseases, DNAJC17 function is still poorly understood. Herein, we have investigated its function through high-throughput transcriptomic and proteomic approaches...
May 17, 2018: Scientific Reports
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela, Rafal Ploski, Malgorzata Rydzanicz, Maciej Sykulski, Jaroslaw Kociecki, Nicole Weisschuh, Susanne Kohl, Saskia Biskup, Bernd Wissinger, Maciej R Krawczynski
Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells. Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL)...
2018: Molecular Vision
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