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1. Retinitis pigmentosa
by Heckenlively, John R
1988, ISBN 0397506562, xiv, 269
Retinitis Pigmentosa
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2. Full Text Treatment With 9-cis β-Carotene–Rich Powder in Patients With Retinitis Pigmentosa : A Randomized Crossover Trial
by Rotenstreich, Ygal and Belkin, Michael and Sadetzki, Siegal and Chetrit, Angela and Ferman-Attar, Gili and Sher, Ifat and Harari, Ayelet and Shaish, Aviv and Harats, Dror
JAMA Ophthalmology, ISSN 2168-6165, 08/2013, Volume 131, Issue 8, pp. 985 - 992
IMPORTANCE Retinitis pigmentosa (RP) is the leading cause of incurable inherited blindness in the developed world, with an estimated prevalence of 1 in 3500... 
LUNG-CANCER | LEBER CONGENITAL AMAUROSIS | RPE65(-/-) MICE | ROD | MOUSE MODEL | RETINAL DISEASES | DOUBLE-BLIND | 9-CIS-BETA-CAROTENE | OPHTHALMOLOGY | ALGA DUNALIELLA-BARDAWIL | 9-CIS-RETINOIC ACID | Visual Fields - physiology | beta Carotene - therapeutic use | Humans | Middle Aged | Male | Young Adult | Light | Adult | Female | Retinitis Pigmentosa - physiopathology | Visual Acuity - physiology | Electroretinography | beta Carotene - blood | Powders | Double-Blind Method | Administration, Oral | Retinitis Pigmentosa - drug therapy | Dark Adaptation - physiology | Treatment Outcome | beta Carotene - administration & dosage | Vitamins - therapeutic use | Cross-Over Studies | Retina - physiology | Chlorophyta | Aged | Vitamins - administration & dosage | Care and treatment | Usage | Retinitis pigmentosa | Analysis | Clinical trials | Placebos | Beta carotene | Index Medicus | Abridged Index Medicus
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3. Full Text Next-generation genetic testing for retinitis pigmentosa
by Neveling, K and Collin, R.W.J and Gilissen, C and Huet, R.A. van and Visser, L and Kwint, M.P and Gijsen, S.J and Zonneveld, M.N and Wieskamp, N and Ligt, J. de and Siemiatkowska, A.M and Hoefsloot, L.H and Buckley, M.F and Kellner, U and Branham, K.E and Hollander, A.I. den and Hoischen, A and Hoyng, C and Klevering, B.J and Born, L.I. van den and Veltman, J.A and Cremers, F.P and Scheffer, H
Human Mutation, ISSN 1059-7794, 2012, Volume 33, Issue 6, pp. 963 - 972
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes... 
DNA diagnostics | NGS | Retinitis pigmentosa | Blindness | Clinical molecular diagnostics | RETINAL DEGENERATION | MENTAL-RETARDATION | MICROARRAY | blindness | MISSENSE MUTATIONS | LEBER CONGENITAL AMAUROSIS | CONE-ROD DYSTROPHY | DNA | ABCA4 ABCR GENE | DISEASE | GENETICS & HEREDITY | retinitis pigmentosa | clinical molecular diagnostics | PROTEIN FUNCTION | Computational Biology - methods | Reproducibility of Results | Humans | Retinitis Pigmentosa - genetics | Genotype | Male | Retinitis Pigmentosa - diagnosis | Genetic Variation | Phenotype | Pedigree | Alleles | Female | Mutation | High-Throughput Nucleotide Sequencing - methods | Quality Control | Index Medicus
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4. HEREDITARY ATYPICAL RETINITIS PIGMENTOSA: CASE REPORT
by Omoti, A.E
HEREDITARY ATYPICAL RETINITIS PIGMENTOSA: CASE REPORT, 12/2005
This report presents four generations of hereditary atypical (pericentric) retinitis pigmentosa in an Itsekiri family of Warri, Delta state of Nigeria. The... 
Pigmentolyse Rétinite, héréditaire, atypique | Retinitis pigmentosa, hereditary, atypical
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5. Full Text Prevalence, Age at Diagnosis, Mortality and Cause of Death in Retinitis Pigmentosa in Korea - A Nationwide Population-based Study
by Na, Kun-Hoo|Kim, Hyun Jung|Kim, Kyoung Hoon|Han, Seungjin|Kim, Patrick|Hann, Hoo Jae|Ahn, Hyeong Sik
American Journal of Ophthalmology, ISSN 0002-9394, 2017, Volume 176, pp. 157 - 165
Abstract Purpose To determine the prevalence and mortality of retinitis pigmentosa (RP) patients in Korea. Design Population-based retrospective cohort study... 
Ophthalmology | VISUAL-ACUITY | RPGR MUTATIONS | DEPRESSION | FAMILIES | OPHTHALMOLOGY | BEIJING EYE | PEOPLE | CHINESE | SUICIDE | HEALTH | IMPAIRMENT | Risk Assessment - methods | Age Distribution | Prevalence | Follow-Up Studies | Humans | Middle Aged | Child, Preschool | Retinitis Pigmentosa - epidemiology | Infant | Male | Incidence | Young Adult | Time Factors | Aged, 80 and over | Adult | Female | Registries | Retrospective Studies | Republic of Korea - epidemiology | Child | Infant, Newborn | Population Surveillance - methods | Diagnostic Techniques, Ophthalmological | Survival Rate - trends | Retinitis Pigmentosa - diagnosis | Adolescent | Sex Distribution | Cause of Death - trends | Aged | Retinitis pigmentosa | Medicine, Preventive | Health aspects | Preventive health services | Medicine, Experimental | Medical research | Health insurance | Disease | Mortality | Health services utilization | Medical diagnosis | Patients | Data bases | Studies | Psychological aspects | Visual impairment | Socioeconomic factors | Registration | Suicides & suicide attempts | Population | Mutation | Health risk assessment | Age | Index Medicus | Abridged Index Medicus
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6. Full Text Visual Prognosis in USH2A -Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa
by Pierrache, Laurence H.M., MD|Hartel, Bas P., MD|van Wijk, Erwin, PhD|Meester-Smoor, Magda A., PhD|Cremers, Frans P.M., PhD|de Baere, Elfride, MD, PhD|de Zaeytijd, Julie, MD|van Schooneveld, Mary J., MD, PhD|Cremers, Cor W.R.J., MD, PhD|Dagnelie, Gislin, PhD|Hoyng, Carel B., MD, PhD|Bergen, Arthur A., PhD|Leroy, Bart P., MD, PhD|Pennings, Ronald J.E., MD, PhD|van den Born, L. Ingeborgh, MD, PhD|Klaver, Caroline C.W., MD, PhD
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 5, pp. 1151 - 1160
Purpose USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied... 
Ophthalmology | Vision, Low - physiopathology | Visual Fields - physiology | Prognosis | Follow-Up Studies | Genetic Association Studies | Blindness - physiopathology | Extracellular Matrix Proteins - genetics | Humans | Middle Aged | Retinitis Pigmentosa - genetics | Male | Usher Syndromes - genetics | DNA Mutational Analysis | Adolescent | Adult | Female | Aged | Mutation | Usher Syndromes - physiopathology | Retinitis Pigmentosa - physiopathology | Visual Acuity - physiology | Medical colleges | Retinitis pigmentosa | Epidemiology | Medical genetics | Index Medicus
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7. Full Text A Retinitis Pigmentosa GTPase Regulator (RPGR)-Deficient Mouse Model for X-Linked Retinitis Pigmentosa (RP3)
by Dong-Hyun Hong and Basil S. Pawlyk and Jingzi Shang and Michael A. Sandberg and Eliot L. Berson and Tiansen Li
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2000, Volume 97, Issue 7, pp. 3649 - 3654
The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide... 
Retinal rods | Biological Sciences | Exons | Retinitis pigmentosa | Antibodies | Photoreceptors | Retina | Mice | Cone opsins | Regulator genes | Cilia | LOCALIZATION | NUCLEOTIDE-EXCHANGE FACTOR | FAMILIES | MULTIDISCIPLINARY SCIENCES | MUTATION | A-WAVE | RPGR GENE | RCC1 | EXPRESSION | HOMOLOGY | PHOTOTRANSDUCTION | Photoreceptor Cells, Vertebrate - ultrastructure | Mice, Inbred C57BL | Retinitis Pigmentosa - genetics | Male | DNA Primers | Microscopy, Electron | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Base Sequence | X Chromosome | Female | Photoreceptor Cells, Vertebrate - metabolism | Eye Proteins | Disease Models, Animal | Genetic Linkage | Analysis | Causes of | Biochemistry | Research | Nucleotides | Gene expression | Guanine | Neurology | Disease | Rodents | Genes | retinitis pigmentosa GTPase regulator | opsins | Index Medicus
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8. Full Text NGS-based Molecular diagnosis of 105 eyeGENE ® probands with Retinitis Pigmentosa
by Ge, Zhongqi and Bowles, Kristen and Goetz, Kerry and Scholl, Hendrik P. N and Wang, Feng and Wang, Xinjing and Xu, Shan and Wang, Keqing and Wang, Hui and Chen, Rui
Scientific Reports, ISSN 2045-2322, 12/2015, Volume 5, Issue 1, pp. 18287 - 18287
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE (R)) was established in an effort to facilitate basic and clinical research of... 
RETINAL DEGENERATION | RHODOPSIN GENE | LEBER CONGENITAL AMAUROSIS | USH2A GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | MACULAR DYSTROPHY | SYNDROME TYPE-II | BETA-SUBUNIT | ROD PHOSPHODIESTERASE | MUTATION SPECTRUM | Antigens, Neoplasm - genetics | Genetic Testing | Genetic Association Studies | Receptors, Glutamate - genetics | Humans | Child, Preschool | Retinitis Pigmentosa - genetics | Male | Retinitis Pigmentosa - diagnosis | Inheritance Patterns | Molecular Diagnostic Techniques | Phenotype | Pedigree | Female | High-Throughput Nucleotide Sequencing | Receptors, G-Protein-Coupled - genetics | Mutation | Neoplasm Proteins - genetics | Child | Cohort Studies | Eye | Genotyping | Retinitis pigmentosa | Phenotyping | Retina | Retinitis | Heredity | Genetic screening | Index Medicus
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9. Full Text Retinitis Pigmentosa
by Rehman, Habib ur
The New Zealand medical journal, ISSN 0028-8446, 05/2015, Volume 128, Issue 1415, pp. 54 - 55
Describes a case of the hereditary disorder of the retina. Source: National Library of New Zealand Te Puna Matauranga o Aotearoa, licensed by the Department of... 
Retinitis pigmentosa | Female | Aged | Fundus Oculi | Retinitis Pigmentosa - pathology | Humans | Index Medicus
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10. Full Text Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy
by Pinto, Wladimir Bocca Vieira de Rezende and Souza, Paulo Victor Sgobbi de and Pinheiro, Jhonatan Rafael Siqueira and Okamoto, Karine Yoshiye Kajiyama and Enokihara, Mílvia Maria Simões e Silva and Oliveira, Acary Souza Bulle
Neurology, ISSN 0028-3878, 09/2015, Volume 85, Issue 12, pp. 1087 - 1087
A 21-year-old man presented with a 4-year history of seizures, visual hallucinations, cognitive decline, and gait impairment. Neurologic examination revealed... 
CLINICAL NEUROLOGY | Lafora Disease - diagnosis | Young Adult | Retinitis Pigmentosa - complications | Humans | Myoclonic Epilepsies, Progressive - complications | Male | Lafora Disease - complications | Myoclonic Epilepsies, Progressive - diagnosis | Retinitis Pigmentosa - diagnosis | Index Medicus | Abridged Index Medicus
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11. Full Text PRPF4 mutations cause autosomal dominant retinitis pigmentosa
by Chen, Xue and Liu, Yuan and Sheng, Xunlun and Tam, Pancy O. S and Zhao, Kanxing and Chen, Xuejuan and Rong, Weining and Liu, Yani and Liu, Xiaoxing and Pan, Xinyuan and Chen, Li Jia and Zhao, Qingshun and Vollrath, Douglas and Pang, Chi Pui and Zhao, Chen
Human Molecular Genetics, ISSN 0964-6906, 06/2014, Volume 23, Issue 11, pp. 2926 - 2939
Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors, exhibits significant genetic heterogeneity. Several genes associated... 
OVERLAP EXTENSION | YEAST | DEFECTS | GENE | ZEBRAFISH MODEL | U4/U6 SNRNPS | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPLICEOSOME | GENETICS & HEREDITY | POLYMERASE CHAIN-REACTION | IDENTIFICATION | SPLICING FACTOR | Amino Acid Sequence | Promoter Regions, Genetic | Down-Regulation | Humans | Middle Aged | Molecular Sequence Data | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Male | Mutation, Missense | Ribonucleoprotein, U4-U6 Small Nuclear - metabolism | Young Adult | Sequence Alignment | Genes, Dominant | Pedigree | Ribonucleoprotein, U4-U6 Small Nuclear - genetics | Adolescent | Ribonucleoprotein, U4-U6 Small Nuclear - chemistry | Adult | Female | Aged | Child | Index Medicus
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12. Full Text Four-Year Placebo-Controlled Trial of Docosahexaenoic Acid in X-Linked Retinitis Pigmentosa (DHAX Trial): A Randomized Clinical Trial
by Hoffman, Dennis R and Hughbanks-Wheaton, Dianna K and Pearson, N. Shirlene and Fish, Gary E and Spencer, Rand and Takacs, Alison and Klein, Martin and Locke, Kirsten G and Birch, David G
JAMA Ophthalmology, ISSN 2168-6165, 07/2014, Volume 132, Issue 7, pp. 866 - 873
IMPORTANCE: X-linked retinitis pigmentosa is a severe inherited retinal degenerative disease with a frequency of 1 in 100 000 persons. Because no cure is... 
SUPPLEMENTATION | DISEASES | THERAPY | DYSTROPHY | SAFETY | FAMILIES | RHODOPSIN | OPHTHALMOLOGY | MUTATIONS | VITAMIN-A TREATMENT | RPGR | Humans | Male | Chromatography, Gas | Young Adult | Capsules | Genetic Diseases, X-Linked - drug therapy | Adult | Child | Retinitis Pigmentosa - physiopathology | Genetic Diseases, X-Linked - physiopathology | Docosahexaenoic Acids - therapeutic use | Electroretinography | Double-Blind Method | Administration, Oral | Retinitis Pigmentosa - drug therapy | Erythrocyte Membrane - metabolism | Retinal Cone Photoreceptor Cells - physiology | Treatment Outcome | Docosahexaenoic Acids - administration & dosage | Disease Progression | Genetic Diseases, X-Linked - diagnosis | Retinitis Pigmentosa - diagnosis | Docosahexaenoic Acids - blood | Retinal Rod Photoreceptor Cells - physiology | Adolescent | Usage | Retinitis pigmentosa | Causes of | Research | Diagnosis | Health aspects | Omega-3 fatty acids | Index Medicus | Abridged Index Medicus
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13. Full Text Activated mTORC1 promotes long-term cone survival in retinitis pigmentosa mice
by Venkatesh, Aditya and Ma, Shan and Le, Yun Z and Hall, Michael N and Rüegg, Markus A and Punzo, Claudio
Journal of Clinical Investigation, ISSN 0021-9738, 04/2015, Volume 125, Issue 4, pp. 1446 - 1458
Retinitis pigmentosa (RP) is an inherited photoreceptor degenerative disorder that results in blindness. The disease is often caused by mutations in genes that... 
RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | DIFFUSIBLE FACTOR | RD MOUSE | INCREASED EXPRESSION | GENE | ROD | MOUSE MODEL | CRE RECOMBINASE | NULL-CELLS | CELL-DEATH | PTEN Phosphohydrolase - physiology | Mechanistic Target of Rapamycin Complex 1 | Mice, Mutant Strains | Retinal Cone Photoreceptor Cells - pathology | NADP - physiology | Regulatory-Associated Protein of mTOR | TOR Serine-Threonine Kinases - physiology | Caspase 2 - physiology | Insulin - pharmacology | PTEN Phosphohydrolase - deficiency | Cell Survival | Mice, Inbred C57BL | Retinitis Pigmentosa - genetics | Mice, Knockout | Multiprotein Complexes - physiology | Animals | Caspase 2 - deficiency | Retinitis Pigmentosa - therapy | Adaptor Proteins, Signal Transducing - deficiency | Glucose - metabolism | Signal Transduction - physiology | Mice | Models, Neurological | Retinal Cone Photoreceptor Cells - metabolism | Retinitis Pigmentosa - pathology | Insulin - therapeutic use | Retinal Rod Photoreceptor Cells - pathology | Apoptosis | Cellular proteins | Retinitis pigmentosa | Cones (Photoreceptors) | Abnormalities | Development and progression | Genetic aspects | Health aspects | Photoreceptors | Metabolism | Gene expression | Phosphatase | Feedback | Index Medicus | Abridged Index Medicus | Genetics | Neuroscience | Ophthalmology
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14. Full Text Retinitis Pigmentosa: Genes and Disease Mechanisms
by Francesco Parmeggiani and Francesco S. Sorrentino and Diego Ponzin and Vanessa Barbaro and Stefano Ferrari and Enzo Di Iorio
Current Genomics, ISSN 1389-2029, 06/2011, Volume 12, Issue 4, pp. 238 - 249
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and characterized by abnormalities of the photoreceptors (rods and... 
Syndromic retinitis pigmentosa | Mutations | Non-syndromic retinitis pigmentosa | X-linked | Retina | Recessive | Dominant | RETINAL DEGENERATION | VISUAL CYCLE | dominant | BIOCHEMISTRY & MOLECULAR BIOLOGY | non-syndromic retinitis pigmentosa | RPE65 | mutations | THERAPY | MESSENGER-RNA | retina | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | RHODOPSIN | LEBERS CONGENITAL AMAUROSIS | recessive | retinal degeneration | Retinitis pigmentosa | X chromosome | Data processing | Bardet-Biedl syndrome | Rods | Hereditary diseases | Eye | Reviews | Cones | Photoreceptors | Mutation | retinal pigment epithelium
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15. Full Text Treatment Possibilities for Retinitis Pigmentosa
by Jacobson, Samuel G and Cideciyan, Artur V
The New England Journal of Medicine, ISSN 0028-4793, 10/2010, Volume 363, Issue 17, pp. 1669 - 1671
A study involving mouse models of retinitis pigmentosa examines one of four possible approaches to its treatment in humans. Retinitis pigmentosa, a term coined... 
MEDICINE, GENERAL & INTERNAL | Genetic Therapy | Humans | Retinitis Pigmentosa - drug therapy | Retinal Cone Photoreceptor Cells - physiology | Prostheses and Implants | Retinitis Pigmentosa - genetics | Cell Transplantation | Carrier Proteins - genetics | Halorhodopsins - metabolism | Retina - cytology | Retinitis Pigmentosa - therapy | Eye Proteins - genetics | Dietary Supplements | cis-trans-Isomerases | Care and treatment | Genetic aspects | Gene mutations | Retinitis pigmentosa | Analysis | Retina | Genetic engineering | Transplants & implants | Gene therapy | Eyes & eyesight | Light | Index Medicus | Abridged Index Medicus
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16. Full Text Dominant ARL3-related retinitis pigmentosa
by Holtan, Josephine Prener and Teigen, Knut and Aukrust, Ingvild and Bragadóttir, Ragnheiður and Houge, Gunnar
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 124 - 128
Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant,... 
retinitis pigmentosa | retinal dystrophy | autofluorescence | ARL3
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17. Full Text Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases
by Martin-Merida, Inmaculada and Avila-Fernandez, Almudena and Del Pozo-Valero, Marta and Blanco-Kelly, Fiona and Zurita, Olga and Perez-Carro, Raquel and Aguilera-Garcia, Domingo and Riveiro-Alvarez, Rosa and Arteche, Ana and Trujillo-Tiebas, Ma Jose and Tahsin-Swafiri, Saoud and Rodriguez-Pinilla, Elvira and Lorda-Sanchez, Isabel and Garcia-Sandoval, Blanca and Corton, Marta and Ayuso, Carmen
Ophthalmology, ISSN 0161-6420, 2019, Volume 126, Issue 8, pp. 1181 - 1188
Purpose: We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reported to date. Design: Case series.... 
VITAMIN-E-DEFICIENCY | HETEROGENEITY | DIAGNOSIS | GENE | GUIDELINES | PHENOTYPIC VARIABILITY | OPHTHALMOLOGY | MUTATIONS | ATAXIA | ASSOCIATION | SPANISH FAMILIES | Retinitis pigmentosa | Analysis
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