| P2093 | author name string | Samuel G Jacobson | |
| | Artur V Cideciyan | |
| P2860 | cites work | Seeing the Light after 25 Years of Retinal Gene Therapy | Q89462050 |
| | Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect | Q90596716 |
| | Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models | Q90981501 |
| | Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290 | Q91332592 |
| | Case 15-2009: a man with coma after cardiac arrest | Q95802924 |
| | Positional cloning of the gene associated with X-linked juvenile retinoschisis | Q24317256 |
| | Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy | Q24317514 |
| | Vision 1 year after gene therapy for Leber's congenital amaurosis | Q24607981 |
| | Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial | Q24608049 |
| | Safety and efficacy of gene transfer for Leber's congenital amaurosis | Q24634724 |
| | Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis | Q24678616 |
| | Photoreceptor Sensory Cilium: Traversing the Ciliary Gate | Q26778955 |
| | Systematic Review of Randomized Clinical Trials on Safety and Efficacy of Pharmacological and Nonpharmacological Treatments for Retinitis Pigmentosa | Q26784596 |
| | CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies | Q27301023 |
| | Biology and therapy of inherited retinal degenerative disease: insights from mouse models | Q28084726 |
| | Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination | Q28191585 |
| | Melanopsin-expressing ganglion cells in primate retina signal colour and irradiance and project to the LGN | Q28235603 |
| | Effect of gene therapy on visual function in Leber's congenital amaurosis | Q28277981 |
| | Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype | Q28292007 |
| | Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis | Q28298481 |
| | Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis | Q28305398 |
| | Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. | Q50947743 |
| | Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. | Q50998128 |
| | Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. | Q52532886 |
| | BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. | Q52728747 |
| | Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years | Q57210096 |
| | A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration | Q57456377 |
| | Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes | Q58377991 |
| | The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene | Q64121646 |
| | Relation of optical coherence tomography to microanatomy in normal and rd chickens | Q77518892 |
| | Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration | Q89054563 |
| | Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial | Q30277652 |
| | Human cone photoreceptor dependence on RPE65 isomerase | Q30480075 |
| | Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy | Q30498337 |
| | The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. | Q30499095 |
| | Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years | Q30537764 |
| | Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. | Q32186770 |
| | Retinitis pigmentosa: defined from a molecular point of view | Q33534644 |
| | Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. | Q33622429 |
| | Characterization of outer retinal morphology with high-speed, ultrahigh-resolution optical coherence tomography | Q33755559 |
| | Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success | Q33771032 |
| | Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. | Q33888425 |
| | Rod-derived cone viability factor for treating blinding diseases: from clinic to redox signaling | Q33960294 |
| | Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy | Q33992484 |
| | Genes and mutations causing retinitis pigmentosa | Q34346276 |
| | Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy | Q34373332 |
| | Improvement and decline in vision with gene therapy in childhood blindness. | Q34474831 |
| | Molecular genetics of Leber congenital amaurosis | Q34641603 |
| | The cellular origins of the outer retinal bands in optical coherence tomography images | Q34667862 |
| | Leber congenital amaurosis: genes, proteins and disease mechanisms | Q34796759 |
| | Pseudo-fovea formation after gene therapy for RPE65-LCA. | Q34999841 |
| | Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy | Q35132187 |
| | Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. | Q35518971 |
| | Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. | Q35768517 |
| | Improvement in vision: a new goal for treatment of hereditary retinal degenerations | Q35805426 |
| | Long-term effect of gene therapy on Leber's congenital amaurosis | Q35836291 |
| | Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1. | Q36074089 |
| | AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation | Q36077787 |
| | Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients | Q36252686 |
| | Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. | Q36509898 |
| | Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. | Q36545533 |
| | Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement | Q36598421 |
| | AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis. | Q36635482 |
| | Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants | Q36709692 |
| | Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model | Q36746902 |
| | Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness | Q36825024 |
| | Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics | Q36937189 |
| | Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290 | Q36944797 |
| | Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness | Q37236123 |
| | Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations | Q37317693 |
| | Combined rod and cone transduction by adeno-associated virus 2/8. | Q37404344 |
| | The influence of intrinsically-photosensitive retinal ganglion cells on the spectral sensitivity and response dynamics of the human pupillary light reflex. | Q37480948 |
| | Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene. | Q37641855 |
| | Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait | Q37704937 |
| | The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders | Q37767242 |
| | Non-syndromic retinal ciliopathies: translating gene discovery into therapy | Q38030482 |
| | Proposed lexicon for anatomic landmarks in normal posterior segment spectral-domain optical coherence tomography: the IN•OCT consensus. | Q38206323 |
| | Engineering adeno-associated viruses for clinical gene therapy | Q38212776 |
| | Insights gained from gene therapy in animal models of retGC1 deficiency | Q38214595 |
| | Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. | Q38676926 |
| | Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency. | Q38899558 |
| | Photoreceptor Cilia and Retinal Ciliopathies | Q39176551 |
| | Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions | Q39423311 |
| | Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290. | Q39480239 |
| | Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa | Q39909289 |
| | Normal central retinal function and structure preserved in retinitis pigmentosa. | Q39942382 |
| | Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis | Q40134387 |
| | Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. | Q40180144 |
| | Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis | Q40292682 |
| | CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. | Q40369908 |
| | Ultrastructure of connecting cilia in different forms of retinitis pigmentosa | Q41117982 |
| | Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. | Q41643474 |
| | CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. | Q42051635 |
| | Gene therapy restores vision in a canine model of childhood blindness | Q43590733 |
| | Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures | Q45238349 |
| | Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection | Q45417238 |
| | Retinal optogenetic therapies: clinical criteria for candidacy | Q45886746 |
| | Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration | Q48594838 |
| | Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations | Q48827784 |
| | Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies | Q49344878 |
| P275 | copyright license | Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International | Q24082749 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 5 | |
| P921 | main subject | Leber congenital amaurosis | Q1811132 |
| P304 | page(s) | 1680-1695 | |
| P577 | publication date | 2019-04-01 | |
| P1433 | published in | Investigative Ophthalmology Visual Science | Q6060707 |
| P1476 | title | Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision | |
| P478 | volume | 60 | |