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Cone rod dystrophie

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https://www.readbyqxmd.com/read/27813202/mizuo-nakamura-phenomenon-in-cone-rod-dystrophy
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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...
August 26, 2016: 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
#14
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
https://www.readbyqxmd.com/read/27548899/identification-of-novel-mutations-in-the-lrr-cap-domain-of-c21orf2-in-japanese-patients-with-retinitis-pigmentosa-and-cone-rod-dystrophy
#15
Akiko Suga, Atsushi Mizota, Mitsuhiro Kato, Kazuki Kuniyoshi, Kazutoshi Yoshitake, William Sultan, Masashi Yamazaki, Yoshikazu Shimomura, Kazuho Ikeo, Kazushige Tsunoda, Takeshi Iwata
PURPOSE: C21orf2 encodes a ciliary protein related to syndromic and nonsyndromic retinal degeneration. The purpose of this study was to identify novel mutations of C21orf2 associated with syndromic autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) by using whole exome sequencing of a Japanese cohort. METHODS: Whole exome sequencing was performed on DNA from affected and healthy members from 147 families with retinal degenerations...
August 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27523285/long-term-clinical-follow-up-and-molecular-testing-for-diagnosis-of-the-first-tunisian-family-with-alstr%C3%A3-m-syndrome
#16
Amine Chakroun, Mariem Ben Said, Amine Ennouri, Imen Achour, Mouna Mnif, Mohamed Abid, Abdelmonem Ghorbel, Jan D Marshall, Jürgen K Naggert, Saber Masmoudi
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of sensory functions, resulting in visual and audiological impairment as well as metabolic disturbances. It is caused by recessively inherited mutations in the ALMS1 gene, which codes for a centrosomal/basal body protein. The purpose of this study was to investigate the genetic and clinical features of two Tunisian affected siblings with Alström syndrome. Detailed clinical examinations were performed including complete ophthalmic examination, serial audiograms and several biochemical and hormonal blood tests...
September 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27446487/cell-specific-promoters-enable-lipid-based-nanoparticles-to-deliver-genes-to-specific-cells-of-the-retina-in-vivo
#17
Yuhong Wang, Ammaji Rajala, Binrui Cao, Michelle Ranjo-Bishop, Martin-Paul Agbaga, Chuanbin Mao, Raju V S Rajala
Non-viral vectors, such as lipid-based nanoparticles (liposome-protamine-DNA complex [LPD]), could be used to deliver a functional gene to the retina to correct visual function and treat blindness. However, one of the limitations of LPD is the lack of cell specificity, as the retina is composed of seven types of cells. If the same gene is expressed in multiple cell types or is absent from one desired cell type, LPD-mediated gene delivery to every cell may have off-target effects. To circumvent this problem, we have tested LPD-mediated gene delivery using various generalized, modified, and retinal cell-specific promoters...
2016: Theranostics
https://www.readbyqxmd.com/read/27445454/evaluation-of-cone-function-by-a-handheld-non-mydriatic-flicker-electroretinogram-device
#18
Natsuko Nakamura, Kaoru Fujinami, Yoshinobu Mizuno, Toru Noda, Kazushige Tsunoda
PURPOSE: Full-field electroretinograms (ERGs) are used to evaluate retinal function in patients with various types of hereditary and acquired retinal diseases. However, ERG recordings require relatively invasive procedures, including pupillary dilation and the use of contact lens electrodes. Thus, it would be helpful to have a simpler and noninvasive screening method. The purpose of this study was to determine whether a new, handheld, portable ERG device, RETeval™, can be used to screen patients for cone dysfunction...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27442694/polydactyly-and-obesity-the-clinical-manifestation-of-ciliopathy-a-boy-with-bardet-biedl-syndrome
#19
Agnieszka Szmigielska, Grażyna Krzemień, Maria Roszkowska-Blaim, Ewa Obersztyn
UNLABELLED: The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of obesity. We present the case of a boy with pathological obesity and Bardet-Biedl syndrome (BBS). BBS is a ciliopathy, a heterogeneous group of rare disorders associated with defects in primary cilia...
April 2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27424008/bevacizumab-for-choroidal-neovascularisation-in-enhanced-s-cone-syndrome
#20
G K Broadhead, J R Grigg, P McCluskey, M Korsakova, A A Chang
INTRODUCTION: We present a case of enhanced S-cone syndrome (ESCS)-associated choroidal neovascularisation (CNV) treated successfully with intravitreal bevacizumab therapy. METHODS/CASE REPORT: A 14-year-old with a known retinal dystrophy presented with acute visual deterioration. Fluorescein angiography demonstrated CNV, and treatment was initiated with an anti-vascular endothelial growth factor (anti-VEGF) agent, with significant improvement in vision. Subsequent electroretinogram examination of the patient and her younger sister showed severely reduced rod responses with accentuated fast cone (S-cone only) response, confirming the diagnosis of ESCS as the underlying dystrophy...
July 16, 2016: Documenta Ophthalmologica. Advances in Ophthalmology
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