Leber Congenital Amaurosis
What's New
Last Posted: Jul 19, 2022
- Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese Paolo Enrico et al. Frontiers in genetics 2022 13914345 - Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Sallum Juliana M F et al. Advances in therapy 2022 - Gene therapy: perspectives from young adults with Leber's congenital amaurosis.
Napier Melanie P et al. Eye (London, England) 2021 - Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun Manar et al. International journal of molecular sciences 2021 22(13) - Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.
Mack Heather G et al. BMJ open 2021 11(6) e048361 - Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations.
Jacobson Samuel G et al. iScience 2021 24(5) 102409 - Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu Luyao et al. Ophthalmic genetics 2021 1-10 - Gene therapy for inherited retinal diseases: progress and possibilities.
Hu Monica L et al. Clinical & experimental optometry 2021 1-11 - Current Clinical Applications of in vivo Gene Therapy with AAVs.
Mendell Jerry R et al. Molecular therapy : the journal of the American Society of Gene Therapy 2020 Dec - Focused Update on AAV-Based Gene Therapy Clinical Trials for Inherited Retinal Degeneration.
Fuller-Carter Paula I et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2020 Nov
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: