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Retinal dystrophy

Katie Weihbrecht, Wesley A Goar, Thomas Pak, Janelle E Garrison, Adam P DeLuca, Edwin M Stone, Todd E Scheetz, Val C Sheffield
Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone dystrophy with early macular involvement. BBS is an autosomal recessive, genetically heterogeneous, pleiotropic ciliopathy for which 21 causative genes have been discovered to date. In addition to retinal degeneration, the cardinal features of BBS include obesity, cognitive impairment, renal anomalies, polydactyly, and hypogonadism. Here, we review the genes, proteins, and protein complexes involved in BBS and the BBS model organisms available for the study of retinal degeneration...
September 2017: Medical Research Archives
Mioara-Laura Macovei, Maria-Alexandra Nica
The authors presented a clinical case of retinitis punctate albescens in a 26-year-old female patient, with a family history of typical retinitis pigmentosa (father) and bilateral cystoid macular edema treated with anti-VEGF (bevacizumab).
April 2017: Romanian Journal of Ophthalmology
Shujin Li, Mu Yang, Wenjing Liu, Yuqing Liu, Lin Zhang, Yeming Yang, Periasamy Sundaresan, Zhenglin Yang, Xianjun Zhu
BACKGROUND: Retinitis pigmentosa (RP) is a group of rare inherited retinal dystrophies that result in a progressive loss of vision. Molecular diagnosis of RP is difficult due to its phenotypic and genetic heterogeneities. AIMS: To investigate causative genetic mutations in a collection of RP cases: one Indian and two Chinese families with autosomal-recessive RP and two sporadic patients with RP. MATERIALS AND METHODS: A total of 163 genes, which have previously been found to be involved in inherited retinal disorders, were selected for targeted next-generation sequencing (NGS)...
February 2018: Genetic Testing and Molecular Biomarkers
Salvador López-Rubio, Oscar F Chacon-Camacho, Rodrigo Matsui, Dalia Guadarrama-Vallejo, Mirena C Astiazarán, Juan C Zenteno
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. Methods: Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included best-corrected visual acuity, electroretinography, Goldmann kinetic visual fields, and full-field electroretinography (ERG). In addition, imaging studies, such as optical coherence tomography (OCT), short-wave autofluorescence imaging, and quantitative analyses of hypofluorescence, were performed in each patient...
2018: Molecular Vision
Carmen Haro, Mary Luz Uribe, Cristina Quereda, Jesús Cruces, José Martín-Nieto
Purpose: Dystroglycanopathies are a heterogeneous group of recessive neuromuscular dystrophies that affect the muscle, brain and retina, and are caused by deficiencies in the O-glycosylation of α-dystroglycan. This post-translational modification is essential for the formation and maintenance of ribbon synapses in the retina. Fukutin and fukutin-related protein (FKRP) are two glycosyltransferases whose deficiency is associated with severe dystroglycanopathies. These enzymes carry out in vitro the addition of a tandem ribitol 5-phosphate moiety to the so-called core M3 phosphotrisaccharide of α-dystroglycan...
2018: Molecular Vision
Immanuel P Seitz, Jasleen K Jolly, M Dominik Fischer, Matthew P Simunovic
PURPOSE: The purpose of this study was to characterise alterations in colour discrimination in a cohort of patients with choroideremia prior to gene therapy, using a test previously validated for use in patients with retinal dystrophies. METHODS: We tested 20 eyes of 10 patients with a diagnosis of choroideremia and an age-matched cohort of 10 eyes of 10 normal controls using the "Cambridge Colour Test" (CCT), in which subjects are required to distinguish the gap in a C presented in one of 4 orientations in a Stilling-type array...
February 5, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
O Fakhoury, J Conrath, B Donnadieu, R Warrak, F Matonti
Monozygotic twins with glutathione synthetase deficiency, progressive retinal dystrophy and cystoid macular edema were followed for foveal changes on optical coherence tomography under different treatment modalities. The purpose of the study is to show the effect of topical dorzolamide in conjunction with systemic acetazolamide in terms of decreasing macular edema in this specific disease. The results showed that systemic acetazolamide alone or in combination with topical dorzolamide decreased CME in both patients for a certain period of time...
January 30, 2018: Journal Français D'ophtalmologie
Kamron N Khan, Anthony Robson, Omar A R Mahroo, Gavin Arno, Chris F Inglehearn, Monica Armengol, Naushin Waseem, Graham E Holder, Keren J Carss, Lucy F Raymond, Andrew R Webster, Anthony T Moore, Martin McKibbin, Maria M van Genderen, James A Poulter, Michel Michaelides
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype-phenotype correlations are currently recognised. We performed a retrospective review of electronic patient records to identify patients with macular dystrophy due to bi-allelic variants in CRB1. In total, seven unrelated individuals were identified. The median age at presentation was 21 years, with a median acuity of 0...
February 1, 2018: European Journal of Human Genetics: EJHG
Hanno Jörn Bolz
Within a few years, high-throughput sequencing (next-generation sequencing, NGS) has become a routine method in genetic diagnostics and has largely replaced conventional Sanger sequencing. The complexity of NGS data requires sound bioinformatic analysis: pinpointing the disease-causing variants may be difficult, and erroneous interpretations must be avoided. When looking at the group of retinal dystrophies as an example of eye disorders with extensive genetic heterogeneity, one can clearly say that NGS-based diagnostics yield important information for most patients and physicians, and that it has furthered our knowledge significantly...
February 1, 2018: Klinische Monatsblätter Für Augenheilkunde
Navid Hakim, Cristina Soare, Jamil Hakim
Walker-Warburg syndrome (WWS) is a disorder characterized by ocular and brain malformations, and congenital muscular dystrophy. Retinal malformations are common in WWS; however, bilateral retinal detachment is a rare occurrence. We present a case of a newborn baby delivered at 36+3 weeks, who was the first living child of consanguineous parents of Turkish origin. On antenatal anomaly scans, the fetus had hydrocephalus that had increased throughout pregnancy, and a diagnosis of hydrancephaly was made at 36 weeks of gestation...
2018: International Medical Case Reports Journal
Marion Schroeder, Ulrika Kjellström
Purpose: To assess retinal function in combination with the retinal structure in ABCA4-associated retinal degenerations. Moreover, to evaluate the possibility of predicting the natural course of these disorders. Methods: 34 patients with Stargardt disease or cone rod dystrophy carrying confirmed mutations in ABCA4 were selected from our retinitis pigmentosa (RP) register. Sequence analysis of the entire coding region of the ABCA4 gene was performed. The patients were subdivided into three groups based on their most recent visual fields...
2018: Molecular Vision
Krithika Anil, Gulcan Garip
BACKGROUND: Retinitis pigmentosa is a group of genetic progressive retinal dystrophies that may adversely affect daily life. Those with RP should develop adaptive coping strategies to manage their condition. This study investigates the relationship between engaging (ECS) and disengaging coping strategies (DCS), vision-related quality of life (VRQoL), and emotional health, in adults living at home with retinitis pigmentosa. METHOD: One hundred and five participants (70 female; meanage of 46...
January 30, 2018: BMC Ophthalmology
Elise Boulanger-Scemama, Jose-Alain Sahel, Saddek Mohand-Said, Aline Antonio, Christel Condroyer, Christina Zeitz, Isabelle Audo
PURPOSE: Autosomal dominant vitreoretinochoroidopathy is an extremely rare disease, which belongs to the BEST1-related disease spectrum. METHODS: Report of five patients with an initial diagnosis of atypical rod-cone dystrophy, for whom autosomal dominant vitreoretinochoroidopathy was retrospectively diagnosed on genetic results using targeted next-generation sequencing. Each patient had a comprehensive ophthalmic examination including multimodal retinal imaging and functional evaluation...
January 23, 2018: Retina
Jennifer Reiner, Laura Pisani, Wanqiong Qiao, Ram Singh, Yao Yang, Lisong Shi, Wahab A Khan, Robert Sebra, Ninette Cohen, Arvind Babu, Lisa Edelmann, Ethylin Wang Jabs, Stuart A Scott
Bardet-Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 20 genes have been implicated in BBS, and all are involved in primary cilia function. We report a 1-year-old male child from Guyana with obesity, postaxial polydactyly on his right foot, hypotonia, ophthalmologic abnormalities, and developmental delay, which together indicated a clinical diagnosis of BBS...
2018: NPJ Genomic Medicine
Marta de Castro-Miró, Raul Tonda, Gemma Marfany, Ricardo P Casaroli-Marano, Roser Gonzàlez-Duarte
AIMS: We aimed to accurately diagnose several retinitis pigmentosa (RP) patients with complex ocular phenotypes by combining massive sequencing genetic diagnosis and powerful clinical imaging techniques. METHODS: Whole-exome sequencing (WES) of selected patients from two RP families was undertaken. The variants identified were validated by Sanger sequencing and cosegregation analysis. Accurate clinical re-evaluation was performed using electrophysiological and visual field records as well as non-invasive imaging techniques, such as swept-source optical coherence tomography and fundus autofluorescence...
January 24, 2018: British Journal of Ophthalmology
Mary Ben L Apatoff, Jesse D Sengillo, Eugenia C White, Mathieu F Bakhoum, Alexander G Bassuk, Vinit B Mahajan, Stephen H Tsang
The mammalian retina, derived from neural ectoderm, has little regenerative potential. For conditions where irreversible retinal pigment epithelium or photoreceptor cell loss occurs, advanced techniques are required to restore vision. Inherited retinal dystrophies and some acquired conditions, such as age-related macular degeneration, have a similar end result of photoreceptor cell death leading to debilitating vision loss. These diseases stand to benefit from future regenerative medicine as dietary recommendations and current pharmacologic therapy only seek to prevent further disease progression...
January 23, 2018: Regenerative Medicine
N E Bechrakis, A Dimmer
The incidence of rhegmatogenous retinal detachment in the European population is approximately 10 cases per 100,000 inhabitants per year and reaches a peak in the 6th and 7th decades of life, mostly in atemporal association with posterior vitreous body detachment. Known risk factors include myopia and higher axial length of the eye, male gender, previous trauma and vitreoretinal degeneration or dystrophy. In recent years, an increase in the risk of rhegmatogenous retinal detachment following cataract surgery was also found, especially after capsule rupture and vitreous body loss...
January 19, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Ana Artero Castro, Dunja Lukovic, Pavla Jendelova, Slaven Erceg
Hereditary retinal dystrophies, specifically retinitis pigmentosa (RP) are clinically and genetically heterogeneous diseases affecting primarily retinal cells and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Understanding the pathogenicity behind these diseases has been largely precluded by the unavailability of affected tissue from patients, large genetic heterogeneity and animal models that do not faithfully represent some human diseases. A landmark discovery of human induced pluripotent stem cells (hiPSC) permitted the derivation of patient-specific cells...
January 18, 2018: Stem Cells
Michael F Marmor
PURPOSE: To analyze an unusual case of widespread chorioretinopathy after cardiac transplantation for its potential etiology and clinical significance. METHODS: Clinical examinations included widefield and macular color and fundus autofluorescence photography, spectral domain optical coherence tomography, fluorescein angiography and indocyanine green angiography, full-field electroretinography, and Goldmann visual fields. PATIENT: A 44-year-old Hispanic woman was referred to rule out retinitis pigmentosa...
January 16, 2018: Retinal Cases & Brief Reports
Neruban Kumaran, Caterina Ripamonti, Angelos Kalitzeos, Gary S Rubin, James W B Bainbridge, Michel Michaelides
Purpose: RPE65-associated Leber congenital amaurosis (RPE65-LCA) is a progressive severe retinal dystrophy with early profound dysfunction of rod photoreceptors followed by progressive cone photoreceptor degeneration. We aim to provide detailed information about how cone dysfunction affects color discrimination. Methods: Seven adults (aged 16-21) with RPE65-LCA underwent monocular color discrimination assessment using the Trivector and Ellipse versions of three computerized tests: Cambridge Colour Test (CCT), low vision version of the Cambridge Colour Test (lvvCCT), and the Universal Colour Discrimination Test (UCDT)...
January 1, 2018: Investigative Ophthalmology & Visual Science
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