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https://www.readbyqxmd.com/read/28056120/clinical-characterization-of-cngb1-related-autosomal-recessive-retinitis-pigmentosa
#1
Sarah Hull, Marcella Attanasio, Gavin Arno, Keren Carss, Anthony G Robson, Dorothy A Thompson, Vincent Plagnol, Michel Michaelides, Graham E Holder, Robert H Henderson, F Lucy Raymond, Anthony T Moore, Andrew R Webster
Importance: There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. Objective: To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1. Design, Setting, and Participants: In this case series, 10 patients from 9 families underwent full ophthalmologic examination...
January 5, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28053051/rom1-converts-y141c-prph2-associated-pattern-dystrophy-to-retinitis-pigmentosa
#2
Shannon M Conley, Michael W Stuck, Jamie N Watson, Muna I Naash
Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD). PRPH2-associated disease is often characterized by a phenotypic variability even within families carrying the same mutation, raising interest in potential modifiers. PRPH2 oligomerizes with its homologue rod outer segment (OS) membrane protein 1 (ROM1), and non-pathogenic PRPH2/ROM1 mutations, when present together, lead to digenic RP...
January 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28044389/in-silico-functional-meta-analysis-of-5-962-abca4-variants-in-3-928-retinal-dystrophy-cases
#3
Stéphanie S Cornelis, Nathalie M Bax, Jana Zernant, Rando Allikmets, Lars G Fritsche, Johan T den Dunnen, Muhammad Ajmal, Carel B Hoyng, Frans P M Cremers
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive Stargardt disease (STGD1) and cone-rod dystrophy (arCRD). The clinical outcome to a large degree depends on the severity of the variants. To provide an accurate prognosis and to select patients for novel treatments, functional significance assessment of non-truncating ABCA4 variants is important. We collected all published ABCA4 variants from 3,931 retinal dystrophy cases in a Leiden Open Variation Database, and compared their frequency in 3,270 Caucasian IRD cases with 33,370 non-Finnish European control individuals...
January 3, 2017: Human Mutation
https://www.readbyqxmd.com/read/28004468/first-2-cases-with-thiamine-responsive-megaloblastic-anemia-in-the-czech-republic-a-rare-form-of-monogenic-diabetes-mellitus-a-novel-mutation-in-the-thiamine-transporter-slc19a2-gene-intron-1-mutation-c-204-2t-g
#4
Renata Pomahačová, Jana Zamboryová, Josef Sýkora, Petra Paterová, Karel Fiklík, Tomáš Votava, Zdeňka Černá, Petr Jehlička, Václav Lád, Ivan Šubrt, Jiří Dort, Eva Dortová
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with TRMA first diagnosed in the Czech Republic and in central Europe being confirmed by sequencing of the THTR-1 gene SLC19A2. Both subjects are compound heterozygotes with 3 different mutations in the SLC19A2 gene...
December 22, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/28002560/clinical-characteristics-mutation-spectrum-and-prevalence-of-%C3%A3-land-eye-disease-incomplete-congenital-stationary-night-blindness-in-denmark
#5
Marianne N Hove, Kevser Z Kilic-Biyik, Alana Trotter, Karen Grønskov, Birgit Sander, Michael Larsen, Joseph Carroll, Torben Bech-Hansen, Thomas Rosenberg
Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27930654/whole-organism-developmental-expression-profiling-identifies-rab-28-as-a-novel-ciliary-gtpase-associated-with-the-bbsome-and-intraflagellar-transport
#6
Victor L Jensen, Stephen Carter, Anna A W M Sanders, Chunmei Li, Julie Kennedy, Tiffany A Timbers, Jerry Cai, Noemie Scheidel, Breandán N Kennedy, Ryan D Morin, Michel R Leroux, Oliver E Blacque
Primary cilia are specialised sensory and developmental signalling devices extending from the surface of most eukaryotic cells. Defects in these organelles cause inherited human disorders (ciliopathies) such as retinitis pigmentosa and Bardet-Biedl syndrome (BBS), frequently affecting many physiological and developmental processes across multiple organs. Cilium formation, maintenance and function depend on intracellular transport systems such as intraflagellar transport (IFT), which is driven by kinesin-2 and IFT-dynein motors and regulated by the Bardet-Biedl syndrome (BBS) cargo-adaptor protein complex, or BBSome...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27813202/mizuo-nakamura-phenomenon-in-cone-rod-dystrophy
#7
Vinod Kumar, Neha Goel, Ullattil K Bhaskaran, Itika Garg
No abstract text is available yet for this article.
November 3, 2016: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/27792813/asymmetrical-functional-deficits-of-on-and-off-retinal-processing-in-the-mdx3cv-mouse-model-of-duchenne-muscular-dystrophy
#8
Tina I Tsai, Mirella Telles Salgueiro Barboni, Balázs Vince Nagy, Michel J Roux, Alvaro Rendon, Dora Fix Ventura, Jan Kremers
Purpose: The dystrophin mouse mutant mdx3Cv exhibits scotopic electroretinograpic (ERG) abnormalities, which resemble clinical changes observed in Duchenne muscular dystrophy (DMD) patients. In the present study, ERGs obtained from mdx3Cv and their wild-type littermates under scotopic, mesopic, and photopic conditions were analyzed to provide further insight on the affected retinal pathways, and to compare them with human data. Methods: Electroretinograms of mdx3Cv (n = 9) and age-matched C57BL/6J mice (n = 10) included the scotopic full-field flash (for outer retinal deficits in rod pathway), scotopic threshold response (for inner retinal integrity), photopic flash, sinusoidal flicker (for outer retinal deficits in cone pathway), mesopic rapid-on/-off sawtooth flicker, and photopic long-duration flash measurements (for separate ON-/OFF-responses under different conditions)...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27734943/identification-of-the-photoreceptor-transcriptional-co-repressor-samd11-as-novel-cause-of-autosomal-recessive-retinitis-pigmentosa
#9
M Corton, A Avila-Fernández, L Campello, M Sánchez, B Benavides, M I López-Molina, L Fernández-Sánchez, R Sánchez-Alcudia, L R J da Silva, N Reyes, E Martín-Garrido, O Zurita, P Fernández-San José, R Pérez-Carro, F García-García, J Dopazo, B García-Sandoval, N Cuenca, C Ayuso
Retinitis pigmentosa (RP), the most frequent form of inherited retinal dystrophy is characterized by progressive photoreceptor degeneration. Many genes have been implicated in RP development, but several others remain to be identified. Using a combination of homozygosity mapping, whole-exome and targeted next-generation sequencing, we found a novel homozygous nonsense mutation in SAMD11 in five individuals diagnosed with adult-onset RP from two unrelated consanguineous Spanish families. SAMD11 is ortholog to the mouse major retinal SAM domain (mr-s) protein that is implicated in CRX-mediated transcriptional regulation in the retina...
October 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27732723/homozygosity-for-a-recessive-loss-of-function-mutation-of-the-nrl-gene-is-associated-with-a-variant-of-enhanced-s-cone-syndrome
#10
Hadas Newman, Sergiu C Blumen, Itzhak Braverman, Rana Hanna, Beatrice Tiosano, Ido Perlman, Tamar Ben-Yosef
Purpose: To investigate the genetic basis for severe visual complaints by Bukharan Jewish patients with oculopharyngeal muscular dystrophy (OPMD). Methods: Polymerase chain reaction amplification and direct sequencing were used to test for NRL, PABPN1, and NR2E3 mutations. Complete ophthalmic examination included best-corrected visual acuity, biomicroscopic examination, optical coherence tomography, and fundus autofluorescence. Detailed electroretinography (ERG) testing was conducted including expanded International Society for Clinical Electrophysiology of Vision protocol for light-adapted and dark-adapted conditions, measurements of S-cone function, and ON-OFF light-adapted ERG...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27682439/reduced-metabolic-function-and-structural-alterations-in-inherited-retinal-dystrophies-investigating-the-effect-of-peripapillary-vessel-oxygen-saturation-and-vascular-diameter-on-the-retinal-nerve-fibre-layer-thickness
#11
Rossiana I Bojinova, Cengiz Türksever, Andreas Schötzau, Christophe Valmaggia, Daniel F Schorderet, Margarita G Todorova
PURPOSE: To evaluate the relationship between the peripapillary metabolic alterations [retinal vessel Oximetry (RO)] and the structural findings [retinal vessel diameter and retinal nerve fibre layer thickness (RNFL)] in patients with inherited retinal dystrophies (IRD). METHODS: Patients with IRD [24 patients with rod-cone dystrophy (RCD), 15 patients with cone-rod dystrophy, 13 patients with inherited maculopathy] and 18 age-matched controls, who underwent RO imaging and spectral domain optical coherence tomography, were included...
September 29, 2016: Acta Ophthalmologica
https://www.readbyqxmd.com/read/27668495/regressive-retinal-flecks-in-crx-mutated-early-onset-retinal-dystrophy
#12
Maria Vittoria Cicinelli, Maria Pia Manitto, Maurizio Battaglia Parodi, Francesco Bandello
PURPOSE: To describe a peculiar flecked-retina phenotype in a young female affected by early-onset retinal dystrophy due to a heterozygous mutation in the cone-rod transcription factor CRX gene. CASE REPORT: A 5-year-old girl presented with poor vision and nystagmus from the first month after birth. Opththalmologic examination at baseline revealed an altered foveal reflex, epiretinal membrane, and yellow fleck-like retinal deposits in the mid- and extreme periphery bilaterally that disappeared after 3 years of follow-up...
October 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/27627988/cep78-is-mutated-in-a-distinct-type-of-usher-syndrome
#13
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen
BACKGROUND: Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite a dozen of genes involved in Usher syndrome having been identified, the genetic basis remains unknown in 20-30% of patients. In this study, we aimed to identify the novel disease-causing gene of a distinct subtype of Usher syndrome. METHODS: Ophthalmic examinations and hearing tests were performed on patients with Usher syndrome in two consanguineous families...
September 14, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27623334/reevaluation-of-the-retinal-dystrophy-due-to-recessive-alleles-of-rgr-with-the-discovery-of-a-cis-acting-mutation-in-cdhr1
#14
Gavin Arno, Sarah Hull, Keren Carss, Arundhati Dev-Borman, Christina Chakarova, Kinga Bujakowska, Ingeborgh van den Born, Anthony G Robson, Graham E Holder, Michel Michaelides, Frans P M Cremers, Eric Pierce, F Lucy Raymond, Anthony T Moore, Andrew R Webster
PURPOSE: Mutation of RGR, encoding retinal G-protein coupled receptor was originally reported in association with retinal dystrophy in 1999. A single convincing recessive variant segregated perfectly in one family of five affected and two unaffected siblings. At least one further individual, homozygous for the same variant has since been reported. The aim of this report was to reevaluate the findings in consideration of data from a whole genome sequencing (WGS) study of a large cohort of retinal dystrophy families...
September 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27608171/arreye-a-customized-platform-for-high-resolution-copy-number-analysis-of-coding-and-noncoding-regions-of-known-and-candidate-retinal-dystrophy-genes-and-retinal-noncoding-rnas
#15
Caroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, Miriam Bauwens, Thalia Van Laethem, Sarah De Jaegere, Wouter Steyaert, Tom Sante, Björn Menten, Bart P Leroy, Frauke Coppieters, Elfride De Baere
PURPOSE: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina-expressed noncoding RNAs (ncRNAs). METHODS: arrEYE contains probes for the full genomic region of 106 known iRD genes, including those implicated in retinitis pigmentosa (RP) (the most frequent iRD), cone-rod dystrophies, macular dystrophies, and an additional 60 candidate iRD genes and 196 ncRNAs...
September 8, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27605748/metabolic-syndrome-in-childhood-rare-case-of-alstrom-syndrome-with-blindness
#16
Afzal Ahmad, Benedicta D'Souza, Charu Yadav, Ashish Agarwal, Anand Kumar, M Nandini, Vivian D'Souza, A M Poornima, Nutan Kamath
Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks...
October 2016: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/27588451/mutations-in-cep78-cause-cone-rod-dystrophy-and-hearing-loss-associated-with-primary-cilia-defects
#17
Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Beryl Royer-Bertrand, Martial K Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani V Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre P Moulin, Frans P M Cremers, Ronald Roepman, Yvan Arsenijevic, Miltiadis K Tsilimbaris, Sten Andréasson, Carlo Rivolta
Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease retinitis pigmentosa, because cone photoreceptors degenerate at a higher rate than rod photoreceptors, causing severe deficiency of central vision. After exome analysis of a cohort of individuals with CRD, we identified biallelic mutations in the orphan gene CEP78 in three subjects from two families: one from Greece and another from Sweden...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27583828/phenotype-and-progression-of-retinal-degeneration-associated-with-nullizigosity-of-abca4
#18
Ana Fakin, Anthony G Robson, Kaoru Fujinami, Anthony T Moore, Michel Michaelides, John Pei-Wen Chiang, Graham E Holder, Andrew R Webster
PURPOSE: We describe the phenotypes associated with nullizigosity and nine splicing mutations in the ABCA4 gene. METHODS: The study included 19 patients with biallelic null mutations (Group A, nullizygous), 27 with splicing mutations in the homozygous state or in trans with a null mutation (Group B), and 20 with p.G1961E in trans with a null mutation (Group C, control). Ages at onset and visual acuities were determined from medical histories. Area of decreased autofluorescence within a 30° × 30° fundus autofluorescence (FAF) image was measured with the Region Finder (N = 58)...
September 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27571427/posterior-polar-annular-choroidal-dystrophy-a-case-series
#19
Tamara L Lenis, Michael A Klufas, Sandeep Randhawa, Mithlesh Sharma, David Sarraf
PURPOSE: To describe the multimodal imaging findings of posterior polar annular choroidal dystrophy (PPACD). METHODS: Retrospective case series of 2 patients diagnosed with PPACD. Spectral-domain optical coherence tomography, fundus autofluorescence, and fluorescein angiography findings of PPACD are described. Electroretinography results are also presented. RESULTS: Both patients presented with bilateral peripapillary atrophy extending to involve the temporal arcades in an annular, foveal sparing pattern...
January 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27554115/mutations-in-the-polyglutamylase-gene-ttll5-expressed-in-photoreceptor-cells-and-spermatozoa-are-associated-with-cone-rod-degeneration-and-reduced-male-fertility
#20
Nicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, Hoai Viet Tran, Pietro Farinelli, Sara Balzano, Beryl Royer-Bertrand, Mohammed E El-Asrag, Olivier Bonny, Christos Ikonomidis, Yan Litzistorf, Konstantinos Nikopoulos, Georgia Yioti, Maria Stefaniotou, Martin McKibbin, Jamie Ellingford, Adam P Booth, Graeme Black, Carmel Toomes, Chris F Inglehearn, Carel B Hoyng, Nathalie Bax, Caroline C W Klaver, Alberta A Thiadens, Fabien Murisier, Daniel F Schorderet, Manir Ali, Frans P M Cremers, Sten Andréasson, Francis L Munier, Carlo Rivolta
Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polyglutamylase-encoding gene TTLL5, in eight patients from six families. The two male patients carrying truncating TTLL5 variants also suffered from a substantial reduction in sperm motility and infertility, whereas those carrying missense changes were fertile...
August 22, 2016: Human Molecular Genetics
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