Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

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3. RPE65 -Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study
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4. Gucy2f zebrafish knockdown – a model for Gucy2d-related leber congenital amaurosis
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6. Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy
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7. Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosis
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8. Post-Vitrectomy Endophthalmitis in Victoria, Australia
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15. Retinal Disease in Rpe65-Deficient Mice: Comparison to Human Leber Congenital Amaurosis Due to RPE65 Mutations
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17. Gene Therapy Regenerates Protein Expression in Cone Photoreceptors in Rpe65R91W/R91W Mice
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24. Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes
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25. Can Gene Therapy Transform the Treatment Landscape of Posterior Segment Eye Diseases? A Comprehensive Review of Recent Advancements
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26. Assessment of hazard risk associated with the intravenous use of viral vectors in rodents.
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28. Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections
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29. Mutation K42E in Dehydrodolichol Diphosphate Synthase (DHDDS) Causes Recessive Retinitis Pigmentosa
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30. Altered Expression of Retinal Molecular Markers in the Canine RPE65 Model of Leber Congenital Amaurosis
    Maria Hernández, Susan E. Pearce-Kelling, Francisco David Rodriguez, Gustavo David Aguirre, Elena Vecino · 2010 · Investigative Ophthalmology & Visual Science
31. Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
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32. Evaluation of tolerance to lentiviral LV-RPE65 gene therapy vector after subretinal delivery in non-human primates.
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33. New frontiers of retinal therapeutic intervention: a critical analysis of novel approaches
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34. Progress and challenges in CRISPR-mediated therapeutic genome editing for monogenic diseases
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35. Leber’s congenital amaurosis and the role of gene therapy in congenital retinal disorders
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36. Multiple gene therapy as a tool for regulating the expression of molecules involved in neovascular age-related macular degeneration
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37. A de novo missense mutation in MPP2 confers an increased risk of Vogt–Koyanagi–Harada disease as shown by trio-based whole-exome sequencing
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38. Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene
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39. Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3
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40. Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
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41. Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function
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42. Electronic restoration of vision in those with photoreceptor degenerations
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43. Investor Outlook: Focus on Upcoming LCA2 Gene Therapy Phase III Results
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44. Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies
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45. A Novel Experimental Mouse Model of Retinal Detachment: Complete Functional and Histologic Recovery of the Retina
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46. AAV-Mediated Gene Therapy in Mouse Models of Recessive Retinal Degeneration
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47. Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec
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48. Treatment Potential for LCA5 -Associated Leber Congenital Amaurosis
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49. Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy
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50. RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
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51. Retinal gene therapy: current progress and future prospects
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52. Childhood blindness incidence and aetiologies trends in Israel 2014–2020: what should we focus on?
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53. Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis
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54. Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa
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55. Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function
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57. Subretinal Injection of Voretigene Neparvovec-rzyl in a Patient With RPE65 -Associated Leber's Congenital Amaurosis
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58. Gene Therapy for Rare Diseases: Summary of a National Institutes of Health Workshop, September 13, 2012
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