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1. Full Text Retinal dystrophies
: functional genomics to gene therapy
by Bock, Gregory and Chader, Gerry and Goode, Jamie and Novartis Foundation and Foundation Fighting Blindness
2004, 1. Aufl., Novartis Foundation symposium, ISBN 0470853573, Volume 255, 228
Retinal dystrophies are the major causes of incurable blindness in the Western world. Our insight into their aetiology has improved remarkably over the past... 
Retinal degeneration | Gene therapy | Congresses
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2. Full Text Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
by Russell, Stephen and Bennett, Jean and Wellman, Jennifer A and Chung, Daniel C and Yu, Zi-Fan and Tillman, Amy and Wittes, Janet and Pappas, Julie and Elci, Okan and McCague, Sarah and Cross, Dominique and Marshall, Kathleen A and Walshire, Jean and Kehoe, Taylor L and Reichert, Hannah and Davis, Maria and Raffini, Leslie and George, Lindsey A and Hudson, F Parker and Dingfield, Laura and Zhu, Xiaosong and Haller, Julia A and Sohn, Elliott H and Mahajan, Vinit B and Pfeifer, Wanda and Weckmann, Michelle and Johnson, Chris and Gewaily, Dina and Drack, Arlene and Stone, Edwin and Wachtel, Katie and Simonelli, Francesca and Leroy, Bart P and Wright, J Fraser and High, Katherine A and Maguire, Albert M
The Lancet, ISSN 0140-6736, 08/2017, Volume 390, Issue 10097, pp. 849 - 860
Phase 1 studies have shown potential benefit of gene replacement in -mediated inherited retinal dystrophy. This phase 3 study assessed the efficacy and safety... 
MEDICINE, GENERAL & INTERNAL | LEBER CONGENITAL AMAUROSIS | CANINE MODEL | VISION | ADENOASSOCIATED VIRUS | VISUAL FUNCTION | RPE65 MUTATIONS | GENE-THERAPY | IDENTIFICATION | RETINITIS-PIGMENTOSA | BLINDNESS | Retinal degeneration | Care and treatment | Analysis | Studies | Congenital diseases | Clinical trials | Retina | Photoreceptors | Eye diseases | Dystrophy | Mutation | Gene therapy | Children & youth | Index Medicus | Abridged Index Medicus
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3. Best's vitelliform macular dystrophy
by Godel, Victor
1986, ISBN 9788787473934, Volume 175., 31
Book
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4. Full Text Retinal Dystrophy Gene Atlas
by Thiran Jayasundera [and Six Others
06/2018, ISBN 3319108670, 250
Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which... 
Retinal degeneration | Retinal degeneration-Genetic aspects-Atlases | Medicine & Public Health | Ophthalmology
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5. Full Text Gene therapy for retinal dystrophy
by Sahel, José Alain and Dalkara, Deniz
Nature Medicine, ISSN 1078-8956, 2019, Volume 25, Issue 2, pp. 198 - 199
Counteracting splice defects in the CEP290 gene using RNA antisense oligonucleotides or Cas9-mediated gene editing is a therapeutic strategy for Leber... 
MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | Leber Congenital Amaurosis | Genetic Therapy | Oligonucleotides, Antisense | Pedigree | Humans | Retinal Dystrophies - genetics | Cilia | Complications and side effects | Usage | Care and treatment | Analysis | Blindness | Retinal degeneration | Genetic aspects | Children | Gene therapy | Health aspects | Risk factors | Oligonucleotides | Antisense RNA | Retina | Antisense oligonucleotides | Dystrophy | Ribonucleic acid--RNA | Genetic modification | Index Medicus
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6. Full Text Vitelliform Macular Dystrophy
by Spaide, Richard F and Noble, Kenneth and Morgan, Alexander and Freund, K. Bailey
Ophthalmology, ISSN 0161-6420, 2006, Volume 113, Issue 8, pp. 1392 - 1400.e4
To investigate and integrate the photographic, angiographic, and tomographic findings from a group of patients with various stages of vitelliform macular... 
CENTRAL SEROUS CHORIORETINOPATHY | OXIDATION | LIPOFUSCIN | A2E | GENE | OPTICAL COHERENCE TOMOGRAPHY | FUNDUS AUTOFLUORESCENCE | MEMBRANE | OPHTHALMOLOGY | VMD2 | FLUOROPHORE | Macula Lutea | Retinal Diseases - diagnosis | Angiography | Tomography, Optical Coherence | Humans | Middle Aged | Fluorescence | Male | Retinal Diseases - classification | Photography | Adolescent | Adult | Female | Retrospective Studies | Retinal Diseases - physiopathology | Child | Fundus Oculi | Index Medicus
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7. Full Text Central Areolar Choroidal Dystrophy
by Boon, Camiel J.F., MD|Klevering, B. Jeroen, MD, PhD|Cremers, Frans P.M., PhD|Zonneveld-Vrieling, Marijke N.|Theelen, Thomas, MD, PhD|Den Hollander, Anneke I., PhD|Hoyng, Carel B., MD, PhD
Ophthalmology, ISSN 0161-6420, 2009, Volume 116, Issue 4, pp. 771 - 782.e1
Objective To describe the clinical characteristics, follow-up data and molecular genetic background in a large group of patients with central areolar choroidal... 
Ophthalmology | RETINAL DEGENERATION | PHENOTYPIC VARIATION | CONE-ROD DYSTROPHY | FUNDUS AUTOFLUORESCENCE | OPHTHALMOLOGY | MACULAR DEGENERATION | R172W MUTATION | RDS GENE | PERIPHERIN/RDS GENE | RETINITIS-PIGMENTOSA | ARG195LEU MUTATION | Haplotypes | Electrooculography | Retinal Degeneration - diagnosis | Follow-Up Studies | Humans | Middle Aged | Male | Founder Effect | Retinal Pigment Epithelium - pathology | DNA Mutational Analysis | Retinal Cone Photoreceptor Cells - pathology | Intermediate Filament Proteins - genetics | Polymerase Chain Reaction | Adult | Female | Choroid Diseases - physiopathology | Retrospective Studies | Color Perception Tests | Choroid Diseases - genetics | Microsatellite Repeats | Fluorescein Angiography | Electroretinography | Peripherins | Retinal Degeneration - genetics | Tomography, Optical Coherence | Retinal Degeneration - physiopathology | Nerve Tissue Proteins - genetics | Membrane Glycoproteins - genetics | Photography | Age of Onset | Aged | Polymorphism, Single Nucleotide | Mutation | Choroid Diseases - diagnosis | Index Medicus
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8. Full Text Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy A case report of an Indian family
by Gupta, S and Chaurasia, A and Pathak, E and Mishra, R and Chaudhry, VN and Chaudhry, P and Mukherjee, A and Mutsuddi, M
MEDICINE, ISSN 0025-7974, 07/2017, Volume 96, Issue 30, pp. e7490 - e7490
Rationale: Genetic elucidation of cone-dominated retinal dystrophies in Indian subcontinent is much needed to identify and catalog underlying genetic defects.... 
MEDICINE, GENERAL & INTERNAL | homozygous by descent | cone dystrophy | CNGB3 | protein modeling | whole exome sequencing | GATED CHANNEL | SUBUNIT | PREDICTION | Frameshift Mutation | Retinal Degeneration - genetics | Humans | Cyclic Nucleotide-Gated Cation Channels - genetics | Models, Molecular | Retinal Degeneration - physiopathology | India | Exome | Homozygote | Adolescent | Female | Child | Cyclic Nucleotide-Gated Cation Channels - metabolism | Siblings | Electroretinography | Usage | Research | Exome sequencing | Index Medicus | Abridged Index Medicus
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9. Retinal dystrophies and degenerations
by Newsome, David A
1988, ISBN 9780881671865, xiv, 382
Retinal degeneration
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10. Full Text Nonsyndromic Early‐Onset Cone‐Rod Dystrophy and Limb‐Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF
by Lazar, Csilla H and Kimchi, Adva and Namburi, Prasanthi and Mutsuddi, Mousumi and Zelinger, Lina and Beryozkin, Avigail and Ben‐Simhon, Shiran and Obolensky, Alexey and Ben‐Neriah, Ziva and Argov, Zohar and Pikarsky, Eli and Fellig, Yakov and Marks‐Ohana, Devorah and Ratnapriya, Rinki and Banin, Eyal and Sharon, Dror and Swaroop, Anand
Human Mutation, ISSN 1059-7794, 09/2015, Volume 36, Issue 9, pp. 836 - 841
Genetic analysis of clinical phenotypes in consanguineous families is complicated by coinheritance of large DNA regions carrying independent variants. Here, we... 
DYSF | retinal degeneration | vision loss | pleiotropic phenotypes | ALMS1 | photoreceptor | Vision loss | Retinal degeneration | Pleiotropic phenotypes | Photoreceptor | IQCB1 | PHENOTYPE | ALSTROM-SYNDROME | MIYOSHI MYOPATHY | OBESITY | GENE | DNA | GENETICS & HEREDITY | GENERATION | SPECTRUM | DYSFERLIN | Muscular Dystrophies, Limb-Girdle - diagnosis | Genetic Association Studies | Membrane Proteins - genetics | Humans | Dysferlin | Retinitis Pigmentosa - genetics | Male | Muscle, Skeletal - metabolism | Retinitis Pigmentosa - diagnosis | Muscle Proteins - genetics | Proteins - genetics | Phenotype | DNA Mutational Analysis | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Female | Consanguinity | Muscle, Skeletal - pathology | Mutation | Retina - pathology | Genetic research | Genetic aspects | RNA | Muscular dystrophy | Genotype & phenotype | Index Medicus
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11. Full Text Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size
by Statland, Jeffrey M and Sacconi, Sabrina and Farmakidis, Constantine and Donlin-Smith, Colleen M and Chung, Mina and Tawil, Rabi
Neurology, ISSN 0028-3878, 03/2013, Volume 80, Issue 13, pp. 1247 - 1250
Objective: To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular... 
MUSCULAR-DYSTROPHY | MENTAL-RETARDATION | ABNORMALITIES | CLINICAL NEUROLOGY | DISEASE | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Muscle Contraction - genetics | Humans | Middle Aged | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Mutation - genetics | Retinal Telangiectasis - genetics | Chromosomes, Human, Pair 4 | Retinal Telangiectasis - complications | Muscular Dystrophy, Facioscapulohumeral - complications | Retinal Telangiectasis - epidemiology | Adult | Female | Registries | Muscular Dystrophies - physiopathology | Tandem Repeat Sequences - genetics | Index Medicus | Abridged Index Medicus | Life Sciences | Development Biology | 191 | 185
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12. Full Text Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?
by Hendriks, Michelle and Verhoeven, Virginie J.M and Buitendijk, Gabriëlle H.S and Polling, Jan Roelof and Meester-Smoor, Magda A and Meester-Smoor, Magda and Hofman, Albert and van Huet, Ramon A and Klevering, B. Jeroen and Bax, Nathalie M and Lambertus, Stanley and Klaver, Caroline C.W and Hoyng, Carel B and Oomen, Clasien J and van Zelst-Stams, Wendy A and Cremers, Frans P and Plomp, Astrid S and van Schooneveld, Mary J and van Genderen, Mies M and Schuil, José and Boonstra, F. Nienke and Schlingemann, Reinier O and Bergen, Arthur A and Pierrache, Laurence and van den Born, L. Ingeborgh and Boon, Camiel J and Pott, Jan W.R and van Leeuwen, Redmer and Kroes, Hester Y and de Jong-Hesse, Yvonne and Kamermans, Maarten and Ingeborgh van den Born, L and RD500 Consortium and RD5000 Consortium
American Journal of Ophthalmology, ISSN 0002-9394, 10/2017, Volume 182, pp. 81 - 89
It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are... 
BIPOLAR CELLS | FUNDUS-ALBIPUNCTATUS | GENE | MYOPIA | SUSCEPTIBILITY | MACULAR DYSTROPHY | OPHTHALMOLOGY | MUTATIONS | CONE | RETINITIS-PIGMENTOSA | STATIONARY NIGHT BLINDNESS | Retinal Bipolar Cells - pathology | Humans | Middle Aged | Eye Diseases, Hereditary - diagnosis | Male | Retinal Photoreceptor Cell Outer Segment - pathology | Synapses - pathology | Case-Control Studies | DNA Mutational Analysis | Myopia - diagnosis | Adult | Female | Eye Proteins - genetics | Hyperopia - etiology | Eye Diseases, Hereditary - complications | Risk Factors | Hyperopia - diagnosis | Mutation - genetics | Myopia - etiology | Eye Diseases, Hereditary - genetics | Retinal Dystrophies - diagnosis | Calcium Channels, L-Type - genetics | Retinal Photoreceptor Cell Inner Segment - pathology | Retinal Dystrophies - complications | Retinal Dystrophies - genetics | Calcium-Binding Proteins - genetics | Eye | Genetic aspects | Refractive errors | Consortia | Case studies | Congenital diseases | Disease | Cellular biology | Genes | Photoreceptors | Retina | Physiology | Mutation | Ophthalmology | Index Medicus | Abridged Index Medicus
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13. Full Text Vitelliform Macular Dystrophy
by Katz, Matthew S. J and Walsh, Erin K and Medow, Norman B
JAMA Ophthalmology, ISSN 2168-6165, 09/2014, Volume 132, Issue 9, pp. 1098 - 1098
Retinal Pigment Epithelium - metabolism | Vitelliform Macular Dystrophy - metabolism | Choroidal Neovascularization - pathology | Lipofuscin - metabolism | Humans | Vitelliform Macular Dystrophy - diagnosis | OPHTHALMOLOGY | Index Medicus | Abridged Index Medicus
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14. Full Text Reticular Pseudodrusen in Sorsby Fundus Dystrophy
by Gliem, Martin, MD|Müller, Philipp L., MD|Mangold, Elisabeth, MD|Bolz, Hanno J., MD|Stöhr, Heidi, PhD|Weber, Bernhard H.F., PhD|Holz, Frank G., MD|Charbel Issa, Peter, MD, DPhil
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 8, pp. 1555 - 1562
Purpose To investigate the association of reticular pseudodrusen (RPD) with Sorsby fundus dystrophy (SFD). Design Prospective, monocenter, cross-sectional case... 
Ophthalmology | EYES | METALLOPROTEINASES-3 | OPHTHALMOLOGY | MACULAR DEGENERATION | TISSUE INHIBITOR | SUBRETINAL DRUSENOID DEPOSITS | BRUCHS MEMBRANE | PREVALENCE | MORPHOMETRIC-ANALYSIS | GEOGRAPHIC-ATROPHY | TIMP3 GENE | Optical Imaging | Prevalence | Prospective Studies | Bruch Membrane - pathology | Humans | Middle Aged | Coloboma - genetics | Male | Young Adult | Multimodal Imaging | Retinal Drusen - etiology | Retinal Pigment Epithelium - pathology | Retinal Drusen - diagnosis | Adult | Female | Coloboma - complications | Fluorescein Angiography | Tissue Inhibitor of Metalloproteinase-3 - genetics | Cross-Sectional Studies | Tomography, Optical Coherence | Ophthalmoscopy | Microscopy, Confocal | Brachydactyly - genetics | Aged | Mutation | Brachydactyly - complications | Index Medicus
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15. Full Text Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood–Onset Retinal Dystrophy
by Weleber, Richard G., MD|Pennesi, Mark E., MD, PhD|Wilson, David J., MD|Kaushal, Shalesh, MD, PhD|Erker, Laura R., PhD|Jensen, Lauren, MS, RN|McBride, Maureen T., BS|Flotte, Terence R., MD|Humphries, Margaret, RN|Calcedo, Roberto, PhD|Hauswirth, William W., PhD|Chulay, Jeffrey D., MD|Stout, J. Timothy, MD, PhD
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 7, pp. 1606 - 1620
Purpose To provide an initial assessment of the safety of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in adults and children... 
Ophthalmology | CANINE MODEL | VISION | ELECTRORETINOGRAPHY | SAFETY | ROD | TRANSLUCENT | OPHTHALMOLOGY | RPE65 MUTATIONS | HUMAN CONE | PHOTORECEPTORS | DEGENERATION | Electroretinography | Dependovirus - genetics | Visual Fields - physiology | Leber Congenital Amaurosis - physiopathology | Humans | Male | Retinal Degeneration - etiology | Leber Congenital Amaurosis - genetics | Young Adult | cis-trans-Isomerases - genetics | Retinal Degeneration - therapy | Quality of Life | Adult | Female | Genetic Vectors | Child | Leber Congenital Amaurosis - therapy | Visual Acuity - physiology | Injections, Intraocular | Genetic Therapy - methods | Prevention | Care and treatment | Genetic disorders | Genetic vectors | Analysis | Blindness | Retinal degeneration | Gene therapy | Index Medicus
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16. Full Text In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
by Cornelis, S.S and Bax, N.M and Zernant, J and Allikmets, R and Fritsche, L.G and Dunnen, J.T. den and Ajmal, M and Hoyng, C.B and Cremers, F.P.M
Human Mutation, ISSN 1059-7794, 2017, Volume 38, Issue 4, pp. 400 - 408
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive (ar) Stargardt... 
retinal dystrophy | meta‐analysis | in silico prediction | genotype‐phenotype correlation | ABCA4 | mild variants | meta-analysis | genotype-phenotype correlation | GENOTYPE | RECESSIVE RETINITIS-PIGMENTOSA | PHENOTYPE | STARGARDT-DISEASE GENE | CONE-ROD DYSTROPHY | TRANSPORTER GENE | GENETICS & HEREDITY | MUTATIONS | BINDING | ASSOCIATION | REVEALS | Severity of Illness Index | Phenotype | ATP-Binding Cassette Transporters - genetics | Computer Simulation | Gene Frequency | Humans | Alleles | Retinal Dystrophies - pathology | Genotype | Mutation | Retinal Dystrophies - genetics | Retinal degeneration | Analysis | Eye diseases | Genetic disorders | Meta-analysis