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Cone rod dystrophie

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
Christina Zeitz, Cécile Méjécase, Mathilde Stévenard, Christelle Michiels, Isabelle Audo, Michael F Marmor
Autosomal dominant congenital stationary night blindness (adCSNB) is rare and results from altered phototransduction giving a Riggs type of electroretinogram (ERG) with loss of the rod a-wave and small b-waves. These patients usually have normal vision in light. Only few mutations in genes coding for proteins of the phototransduction cascade lead to this condition; most of these gene defects cause progressive rod-cone dystrophy. Mutation analysis of an adCSNB family with a Riggs-type ERG revealed a novel variant (c...
2018: BioMed Research International
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
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
Yuichi Kawamura, Akiko Suga, Takuro Fujimaki, Kazutoshi Yoshitake, Kazushige Tsunoda, Akira Murakami, Takeshi Iwata
The macula is a unique structure in higher primates, where cone and rod photoreceptors show highest density in the fovea and the surrounding area, respectively. The hereditary macular dystrophies represent a heterozygous group of rare disorders characterized by central visual loss and atrophy of the macula and surrounding retina. Here we report an atypical absence of ON-type bipolar cell response in a Japanese patient with autosomal dominant macular dystrophy (adMD). To identify a causal genetic mutation for the adMD, we performed whole-exome sequencing (WES) on four affected and four-non affected members of the family for three generations, and identified a novel p...
May 14, 2018: Journal of Human Genetics
José-Alain Sahel, Thierry Léveillard
Retinal degenerative diseases are a major cause of untreatable blindness due to a loss of photoreceptors. Recent advances in genetics and gene therapy for inherited retinal dystrophies (IRDs) showed that therapeutic gene transfer holds a great promise for vision restoration in people with currently incurable blinding diseases. Due to the huge genetic heterogeneity of IRDs that represents a major obstacle for gene therapy development, alternative therapeutic approaches are needed. This review focuses on the rescue of cone function as a therapeutic option for maintaining central vision in rod-cone dystrophies...
2018: Advances in Experimental Medicine and Biology
Dragana Trifunović, Eleni Petridou, Antonella Comitato, Valeria Marigo, Marius Ueffing, François Paquet-Durand
Photoreceptor cell death in inherited retinal degeneration is accompanied by over-activation of histone deacetylases (HDAC). Excessive HDAC activity is found both in primary rod degeneration (such as in the rd10 mouse) and in primary cone death, including the cone photoreceptor function loss 1 (cpfl1) mouse. We evaluated the potential of pharmacological HDAC inhibition to prevent photoreceptor degeneration in primary rod and cone degeneration. We show that a single in vivo treatment of cpfl1 mice with the HDAC inhibitor trichostatin A (TSA) resulted in a significant protection of cpfl1 mutant cones...
2018: Advances in Experimental Medicine and Biology
Maria Iribarne, Ichiro Masai
Humans with mutations in the phototransduction pathway develop forms of retinal degeneration, such as retinitis pigmentosa, cone dystrophy, or Leber congenital amaurosis. Similarly, numerous phototransduction mutant animal models resemble retinal degeneration. In our lab, using a zebrafish model, we study cone-specific phototransduction mutants. cGMP is the second messenger in the phototransduction pathway, and abnormal cGMP levels are associated with photoreceptor death. Rd1, a rod-specific phosphodiesterase 6 (Pde6) subunit mutant in mice, is one of the most widely used animal models for retinal degeneration...
2018: Advances in Experimental Medicine and Biology
Hwa Sun Kim, Shun-Ping Huang, Eun-Jin Lee, Cheryl Mae Craft
When visual arrestin 1 (ARR1, S-antigen, 48 KDa protein) was genetically knocked out in mice (original Arr1 -/- , designated Arr1 -/-A ), rod photoreceptors degenerated in a light-dependent manner. Subsequently, a light-independent cone dystrophy was identified with minimal rod death in ARR1 knockout mice (Arr1 -/-A Arr4 +/+ , designated Arr1 -/-B ), which were F2 littermates from breeding the original Arr1 -/-A and cone arrestin knockout 4 (Arr4 -/- ) mice. To resolve the genetic and phenotypic differences between the two ARR1 knockouts, we performed Affymetrix™ exon array analysis to focus on the potential differential gene expression profile and to explore the molecular and cellular pathways leading to this observed susceptibility to cone dystrophy in Arr1 -/-B compared to Arr1 -/-A or control Arr1 +/+ Arr4 +/+ (wild type [WT])...
2018: Advances in Experimental Medicine and Biology
Keiko Miyadera
The gene/mutation discovery approaches for inherited retinal diseases (RDs) in the dog model have seen considerable development over the past 25 years. Initial attempts were focused on candidate genes, followed by genome-wide approaches including linkage analysis and DNA-chip-based genome-wide association study. Combined, there are as many as 32 mutations in 27 genes that have been associated with canine retinal diseases to date. More recently, next-generation sequencing has become one of the key methods of choice...
2018: Advances in Experimental Medicine and Biology
Cécile Fortuny, John G Flannery
The clinical success of gene replacement therapies in recent years has served as a proof of concept for the treatment of inherited retinal degenerations using adeno-associated virus (AAV) as viral vector. However, inherited retinal degenerative diseases showcase a broad genetic and mechanistic heterogeneity, challenging the development of mutation-specific therapies for each specific mutation. Mutation-independent approaches must be developed to slow down retinal degeneration regardless of the underlying genetic mutation and onset of the disease...
2018: Advances in Experimental Medicine and Biology
Meng-Che Tsai, Hui-Wen Yu, Tsunglin Liu, Yen-Yin Chou, Yuan-Yow Chiou, Peng-Chieh Chen
Alström syndrome (AS) is a rare autosomal recessive disorder that shares clinical features with other ciliopathy-related diseases. Genetic mutation analysis is often required in making differential diagnosis but usually costly in time and effort using conventional Sanger sequencing. Herein we describe a Taiwanese patient presenting cone-rod dystrophy and early-onset obesity that progressed to diabetes mellitus with marked insulin resistance during adolescence. Whole exome sequencing of the patient's genomic DNA identified a novel frameshift mutation in exons 15 (c...
2018: Frontiers in Genetics
Daiki Kubota, Kiyoko Gocho, Sachiko Kikuchi, Keiichiro Akeo, Masahiro Miura, Kunihiko Yamaki, Hiroshi Takahashi, Shuhei Kameya
BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations...
May 2, 2018: Ophthalmic Genetics
Satoshi Katagiri, Katsuhiro Hosono, Takaaki Hayashi, Kentaro Kurata, Kei Mizobuchi, Tomokazu Matsuura, Kazutoshi Yoshitake, Takeshi Iwata, Tadashi Nakano, Yoshihiro Hotta
Purpose: To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy. Methods: Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). Disease-causing gene variants were identified with whole exome sequencing (WES), with identified candidates confirmed with direct sequencing. Results: WES identified compound heterozygous RPE65 variants in both patients...
2018: Molecular Vision
Luiz H Lima, Claudio Zett, Vinícius Kniggendorf, Bruna Marianelli, Ricardo A P de Carvalho, Michel E Farah, Juliana M F Sallum
PURPOSE: To evaluate the expansion of the hyperautofluorescent ring and the retinal structure changes over time in cone-rod dystrophy (CRD) patients, using fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT). METHODS: Retrospective case series study. Six eyes of three CRD patients with a parafoveal hyperautofluorescent ring were studied. The diagnosis of CRD was established by the presence of the implicit time shift at 30-Hz flicker and prevalent decrease of photopic over scotopic responses on electroretinography...
April 19, 2018: Ophthalmic Genetics
Ifat Sher, Adi Tzameret, Sara Peri-Chen, Victoria Edelshtain, Michael Ioffe, Alon Sayer, Ludmila Buzhansky, Ehud Gazit, Ygal Rotenstreich
The retinoid cycle enzymes regenerate the visual chromophore 11-cis retinal to enable vision. Mutations in the genes encoding the proteins of the retinoid cycle are the leading cause for recessively inherited retinal dystrophies such as retinitis pigmentosa, Leber congenital amaurosis, congenital cone-rod dystrophy and fundus albipunctatus. Currently there is no treatment for these blinding diseases. In previous studies we demonstrated that oral treatment with the 9-cis-β-carotene rich Dunaliella Bardawil algae powder significantly improved visual and retinal functions in patients with retinitis pigmentosa and fundus albipunctatus...
April 17, 2018: Scientific Reports
Isabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Said El Shamieh, José-Alain Sahel, Christina Zeitz
MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. We present here a comprehensive review of all reported MERTK disease causing variants with the associated phenotype. In addition, we provide further data and insights of a large cohort of 1,195 inherited retinal dystrophies (IRD) index cases applying state-of-the-art genotyping techniques and summarize current knowledge...
April 16, 2018: Human Mutation
Jocelyn Lam, Bradley Sifrig, Hoon Jung
Purpose: We report an unusual case of rapid and severe anterior capsular contraction associated with secondary intraocular lens (IOL) dislocation following cataract surgery in a patient with unspecified rod-cone dystrophy. Case Report: A 68-year-old woman with a history of uncharacterized bilateral rod-cone dystrophy presented with blurry vision 1 month after cataract surgery. Best corrected visual acuity was 20/40 in the operative eye. Slit-lamp exam showed severe anterior capsular phimosis limiting view of the fundus...
January 2018: Case Reports in Ophthalmology
Sanne K Verbakel, Ramon A C van Huet, Camiel J F Boon, Anneke I den Hollander, Rob W J Collin, Caroline C W Klaver, Carel B Hoyng, Ronald Roepman, B Jeroen Klevering
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20-30% of patients with RP also have an associated non-ocular condition. RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, reflecting the principal dysfunction of rod photoreceptors; central vision loss occurs later in life due to cone dysfunction...
March 27, 2018: Progress in Retinal and Eye Research
Maria L Stunkel, Scott E Brodie, Artur V Cideciyan, Wanda L Pfeifer, Elizabeth L Kennedy, Edwin M Stone, Samuel G Jacobson, Arlene V Drack
PURPOSE: GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progress to mild retinitis pigmentosa. DESIGN: Retrospective case series. METHODS: Multicenter study of 5 patients (3 male, 2 female). RESULTS: All patients presented with night blindness since childhood...
June 2018: American Journal of Ophthalmology
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