Last Posted: Jun 20, 2023
- Phenotypic heterogeneity in family members of patients with retinitis pigmentosa.
Rajasekar Loheshwari Kuppuraj et al. Indian J Ophthalmol 2023 71(6) 2504-2511
- Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Tamar Ben Yosef et al. Mol Vis 2023 291-12
- Electronic medical records driven big data analytics in retinal diseases, report number 1: non-oncological retinal diseases in children and adolescents in India.
Komal Agarwal et al. International ophthalmology 2023
- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Janine Reurink et al. HGG advances 2023 4(2) 100181
- Perspectives on Evolving Gene Therapy for X-Linked Retinitis Pigmentosa.
Sabyasachi Sengupta et al. JAMA ophthalmology 2023 2
- Research trends in the field of retinitis pigmentosa from 2002 to 2021: a 20 years bibliometric analysis.
Lin Feng et al. International ophthalmology 2022
- Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese Paolo Enrico et al. Frontiers in genetics 2022 13914345
- Experiences of genetic testing among individuals with retinitis pigmentosa.
Krauss Emily et al. Ophthalmic genetics 2022 1-8
- Patients with Retinitis Pigmentosa May Have a Higher Risk of Developing Open-Angle Glaucoma.
Hung Man-Chen et al. Journal of ophthalmology 2022 20229719095
- Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
Dong Li et al. JAMA network open 2022 5(5) e229960
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- 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:Oct 1, 2023
- Page last updated:Dec 07, 2023
- Content source: