Last Posted: Aug 03, 2021
- Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone Alessandro et al. American journal of medical genetics. Part A 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)
- Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
Shen Ren-Juan et al. Orphanet journal of rare diseases 2021 16(1) 278
- Partial recovery of visual function in a blind patient after optogenetic therapy
JA Sahel et al, Nature Medicine, May 24, 2021
- Molecular Genetics of Inherited Retinal Degenerations in Icelandic patients.
Thorsteinsson Daniel A et al. Clinical genetics 2021
- CNGB1-related rod-cone dystrophy: a mutation review and update.
Nassisi Marco et al. Human mutation 2021
- The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black Graeme C et al. Orphanet journal of rare diseases 2021 16(1) 142
- 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
- Deep Learning-Based Classification of Inherited Retinal Diseases Using Fundus Autofluorescence.
Miere Alexandra et al. Journal of clinical medicine 2020 Oct 9(10)
- Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
L Kuehlwein et al, JAMA Dermatology, October 15, 2020
- Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Goetz Kerry E et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Sep
- Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.
Mansfield Brian C et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug e31825
- Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou Michalis et al. American journal of ophthalmology 2020 Aug
- A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff Elena R et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
- The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study.
Sabbaghi Hamideh et al. Archives of Iranian medicine 2020 Jul 23(7) 445-454
- Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah Mital et al. Ophthalmic genetics 2020 Jun 1-7
- [Clinical practice guidelines for retinitis pigmentosa].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 295-299
- Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
JC Kapetanovic et al. Nature Medicine, February 24, 2020
- Gene editing prospects for treating inherited retinal diseases.
Benati Daniela et al. Journal of medical genetics 2019 Dec
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 the CDC Office of Public Health Genomics 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.