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Cone rod dystrophie

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https://www.readbyqxmd.com/read/28586915/specific-alleles-of-cln7-mfsd8-a-protein-that-localizes-to-photoreceptor-synaptic-terminals-cause-a-spectrum-of-nonsyndromic-retinal-dystrophy
#1
Kamron N Khan, Mohammed E El-Asrag, Cristy A Ku, Graham E Holder, Martin McKibbin, Gavin Arno, James A Poulter, Keren Carss, Tejaswi Bommireddy, Saghar Bagheri, Benjamin Bakall, Hendrik P Scholl, F Lucy Raymond, Carmel Toomes, Chris F Inglehearn, Mark E Pennesi, Anthony T Moore, Michel Michaelides, Andrew R Webster, Manir Ali
Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study. Methods: Affected patients and their family members were recruited in ophthalmic clinics at each center where they were examined by retinal imaging and detailed electrophysiology...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28586144/co-occurrence-of-jalili-syndrome-and-muscular-overgrowth
#2
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Rafal Ploski, Maciej R Krawczynski
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28566787/acute-flaccid-paraparesis-cauda-equina-syndrome-in-a-patient-with-bardet-biedl-syndrome
#3
Vibhu Krishnan Viswanathan, Rishi Mugesh Kanna, Ajoy Prasad Shetty, S Rajasekaran
Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis...
May 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28542676/detailed-clinical-phenotype-and-molecular-genetic-findings-in-cln3-associated-isolated-retinal-degeneration
#4
Cristy A Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert Kayton, Douglas Weeks, Glenn W Anderson, Ryan Geraets, Camille Parker, David A Pearce, Michel Michaelides, Robert E MacLaren, Anthony G Robson, Graham E Holder, Elise Heon, F Lucy Raymond, Anthony T Moore, Andrew R Webster, Mark E Pennesi
Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported...
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28511423/bardet-biedl-syndrome-a-report-of-two-cases-with-otolaryngologic-symptoms
#5
Mahendra K Singh, Shrinkhal, Sidharth Pradhan, Priyanko Chakraborty
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28510482/rod-outer-segment-development-influences-aav-mediated-photoreceptor-transduction-after-subretinal-injection
#6
Lolita Petit, Shan Ma, Shun-Yun Cheng, Guangping Gao, Claudio Punzo
Vectors based on the adeno-associated virus (AAV) are currently the preferred tools for delivering genes to photoreceptors (PR) in small and large animals. AAVs have been applied successfully in various models of PR dystrophies. However, unknown barriers still limit AAV's efficient application in several forms of severe PR degenerations, due to insufficient transgene expression and/or treated cells at the time of injection. Optimizations of PR gene therapy strategies will likely benefit from the identification of the cellular factors that influence PR transduction...
May 16, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28495838/usher-syndrome-type-1-associated-cadherins-shape-the-photoreceptor-outer-segment
#7
Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit
Usher syndrome type 1 (USH1) causes combined hearing and sight defects, but how mutations in USH1 genes lead to retinal dystrophy in patients remains elusive. The USH1 protein complex is associated with calyceal processes, which are microvilli of unknown function surrounding the base of the photoreceptor outer segment. We show that in Xenopus tropicalis, these processes are connected to the outer-segment membrane by links composed of protocadherin-15 (USH1F protein). Protocadherin-15 deficiency, obtained by a knockdown approach, leads to impaired photoreceptor function and abnormally shaped photoreceptor outer segments...
June 5, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28488341/next-generation-sequencing-targeted-disease-panel-in-rod-cone-retinal-dystrophies-in-m%C3%A4-ori-and-polynesian-reveals-novel-changes-and-a-common-founder-mutation
#8
Andrea L Vincent, Nandoun Abeysekera, Katherine A van Bysterveldt, Verity F Oliver, Jamie M Ellingford, Stephanie Barton, Graeme Cm Black
IMPORTANCE: This study identifies unique genetic variation observed in a cohort of Māori and Polynesian patients with rod-cone retinal dystrophies using a targeted Next Generation Sequencing (NGS) retinal disease gene panel BACKGROUND: With over 250 retinal disease genes identified, genetic diagnosis is still only possible in 60-70% of individuals, and even less within unique ethnic groups. DESIGN: Prospective genetic testing in patients with rod-cone retinal dystrophies identified from the New Zealand Inherited Retinal Disease (IRD) Database, PARTICIPANTS: Sixteen Patients of Māori and Polynesian ancestry...
May 9, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28460050/ift81-as-a-candidate-gene-for-nonsyndromic-retinal-degeneration
#9
Rachayata Dharmat, Wei Liu, Zhongqi Ge, Zixi Sun, Lizhu Yang, Yumei Li, Keqing Wang, Kandace Thomas, Ruifang Sui, Rui Chen
Purpose: IFT81, a core component of the IFT-B complex, involved in the bidirectional transport of ciliary proteins, has been recently implicated in syndromic ciliopathies. However, none of the IFT-B core complex proteins have been associated with nonsyndromic retinal dystrophies. Given the importance of ciliary transport in photoreceptor function and structural maintenance, we sought to investigate the impact of IFT (intraflagellar transport) mutations in nonsyndromic retinopathies. Methods: Whole exome sequencing was performed on 50 cone-rod dystrophy (CRD) patients that were previously screened for mutations in known retinal disease genes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28457383/kidney-transplantation-in-alstr%C3%A3-m-syndrome-case-report
#10
L Poli, G Arroyo, M Garofalo, E Choppin de Janvry, G Intini, A Saracino, R Pretagostini, F Della Pietra, P B Berloco
The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. End-stage renal disease can occur as early as the late teens and is the leading cause of death...
May 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28456785/targeted-next-generation-sequencing-identified-novel-mutations-in-rpgrip1-associated-with-both-retinitis-pigmentosa-and-leber-s-congenital-amaurosis-in-unrelated-chinese-patients
#11
Hui Huang, Ying Wang, Huishuang Chen, Yanhua Chen, Jing Wu, Pei-Wen Chiang, Ning Fan, Yan Su, Jianlian Deng, Dongna Chen, Yang Li, Xinxin Zhang, Mengxin Zhang, Shengran Liang, Santasree Banerjee, Ming Qi, Xuyang Liu
As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28451987/erg-and-other-discriminators-between-advanced-hydroxychloroquine-retinopathy-and-retinitis-pigmentosa
#12
Archana A Nair, Michael F Marmor
PURPOSE: To study whether the ERG and other clinical findings help to distinguish between advanced hydroxychloroquine (HCQ) retinopathy and pericentral or diffuse retinitis pigmentosa (RP) with similar fundus appearance. METHODS: We conducted a retrospective analysis of patients with advanced HCQ retinopathy (n = 11), pericentral RP (n = 8) and diffuse RP (n = 8). Pericentral RP was defined as having limited fundus damage and relatively normal flicker ERG time-to-peak...
June 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28442884/cone-dystrophy-or-macular-dystrophy-associated-with-novel-autosomal-dominant-guca1a-mutations
#13
Gaël Manes, Sonia Mamouni, Emilie Hérald, Anne-Claire Richard, Audrey Sénéchal, Karim Aouad, Béatrice Bocquet, Isabelle Meunier, Christian P Hamel
PURPOSE: Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). The purpose of this study is to report on two novel mutations and the patients' clinical features. METHODS: Clinical investigations included visual acuity and visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and full-field and multifocal electroretinogram (ERG) recordings...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28398482/cerkl-gene-knockout-disturbs-photoreceptor-outer-segment-phagocytosis-and-causes-rod-cone-dystrophy-in-zebrafish
#14
Shanshan Yu, Chang Li, Lincoln Biswas, Xuebin Hu, Fei Liu, James Reilly, Xiliang Liu, Ying Liu, Yuwen Huang, Zhaojing Lu, Shanshan Han, Lei Wang, Jing Yu Liu, Tao Jiang, Xinhua Shu, Fulton Wong, Zhaohui Tang, Mugen Liu
In humans, CERKL mutations cause widespread retinal degeneration: early dysfunction and loss of rod and cone photoreceptors in the outer retina and, progressively, death of cells in the inner retina. Despite intensive efforts, the function of CERKL remains obscure and studies in animal models have failed to clarify the disease mechanism of CERKL mutations. To address this gap in knowledge, we have generated a stable CERKL knockout zebrafish model by TALEN technology and a 7bp deletion in CERKL cDNA that caused the premature termination of CERKL...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28388261/a-novel-likely-pathogenic-variant-in-the-rab28-gene-in-a-korean-patient-with-cone-rod-dystrophy
#15
Ga-In Lee, Chung Lee, Sam Subramanian, Nayoung K D Kim, Chang-Seok Ki, Woong-Yang Park, Byoung Joon Kim, Sang Jin Kim
No abstract text is available yet for this article.
April 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28378834/ablation-of-eys-in-zebrafish-causes-mislocalisation-of-outer-segment-proteins-f-actin-disruption-and-cone-rod-dystrophy
#16
Zhaojing Lu, Xuebin Hu, Fei Liu, Dinesh C Soares, Xiliang Liu, Shanshan Yu, Meng Gao, Shanshan Han, Yayun Qin, Chang Li, Tao Jiang, Daji Luo, An-Yuan Guo, Zhaohui Tang, Mugen Liu
Mutations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however, the function of EYS and the molecular mechanisms of how these mutations cause retinal degeneration are still unclear. Because EYS is absent in mouse and rat, and the structure of the retina differs substantially between humans and Drosophila, we utilised zebrafish as a model organism to study the function of EYS in the retina. We constructed an EYS-knockout zebrafish-line by TALEN technology which showed visual impairment at an early age, while the histological and immunofluorescence assays indicated the presence of progressive retinal degeneration with a cone predominately affected pattern...
April 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28369829/genome-wide-linkage-and-sequence-analysis-challenge-ccdc66-as-a-human-retinal-dystrophy-candidate-gene-and-support-a-distinct-nmnat1-related-fundus-phenotype
#17
Arif O Khan, Birgit S Budde, Peter Nürnberg, Amit Kawalia, Steffen Lenzner, Hanno J Bolz
To uncover the genotype underlying early-onset cone-rod dystrophy and central nummular macular atrophic lesion in two siblings from an endogamous Arab family, we performed targeted next-generation sequencing (NGS) of 44 retinal dystrophy genes, whole-exome sequencing (WES) and genome-wide linkage analysis. Targeted NGS and WES in the index patient highlighted two homozygous variants, a CCDC66 frameshift deletion and a novel missense NMNAT1 variant, c.500G>A (p.Asn167Ser). Linkage and segregation analysis excluded the CCDC66 variant and confirmed the NMNAT1 mutation...
March 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28358949/myopia-and-late-onset-progressive-cone-dystrophy-associate-to-lvava-mvava-exon-3-interchange-haplotypes-of-opsin-genes-on-chromosome-x
#18
Orsolya Orosz, István Rajta, Attila Vajas, Lili Takács, Adrienne Csutak, Mariann Fodor, Bence Kolozsvári, Miklós Resch, Katalin Sényi, Balázs Lesch, Viktória Szabó, András Berta, István Balogh, Gergely Losonczy
Purpose: Rare interchange haplotypes in exon 3 of the OPN1LW and OPN1MW opsin genes cause X-linked myopia, color vision defect, and cone dysfunction. The severity of the disease varies on a broad scale from nonsyndromic high myopia to blue cone monochromatism. Here, we describe a new genotype-phenotype correlation attributed to rare exon 3 interchange haplotypes simultaneously present in the long- and middle-wavelength sensitive opsin genes (L- and M-opsin genes). Methods: A multigenerational family with X-linked high myopia and cone dystrophy was investigated...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28355663/-genotype-phenotype-correlations-in-patients-with-crb1-mutations
#19
C Papadopoulou Laiou, M N Preising, H J Bolz, B Lorenz
Background Mutations in the CRB1 gene were identified in patients with early-onset severe retinal dystrophy (EOSRD), childhood-onset and juvenile-onset rod-cone dystrophy. This study describes the phenotypic spectrum of disease-causing CRB1-mutations in the first two decades of life. Materials and Methods Eight patients, aged three months to 20 years, underwent a full comprehensive ophthalmological examination including best corrected visual acuity testing (BCVA), color vision testing, funduscopy, spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) recording...
March 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28355658/-next-generation-sequencing-a-quantum-leap-in-ophthalmology-research-and-diagnostics
#20
H J Bolz
Many eye diseases have a genetic basis, and most can be caused by mutations in many different genes (extensive genetic heterogeneity). The retinal dystrophies are a good example: More than 200 genes have been identified for the isolated forms (Leber's congenital amaurosis, retinitis pigmentosa, cone-rod dystrophy, congenital stationary night blindness), and for syndromes that comprise additional dysfunctions or malformations of extraocular tissues and organs. Selecting genes for diagnostic testing has been difficult, and their analysis with the hitherto predominant DNA sequencing method (Sanger sequencing) has been extremely laborious: The phenotype rarely indicates the affected gene, and the contributions of the particular genes to the disease (e...
March 2017: Klinische Monatsblätter Für Augenheilkunde
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