Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 1
2018 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Page 1
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
Kumaran N, Moore AT, Weleber RG, Michaelides M. Kumaran N, et al. Br J Ophthalmol. 2017 Sep;101(9):1147-1154. doi: 10.1136/bjophthalmol-2016-309975. Epub 2017 Jul 8. Br J Ophthalmol. 2017. PMID: 28689169 Free PMC article. Review.
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and marked …
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypical …
Gene therapy for RPE65-related retinal disease.
Miraldi Utz V, Coussa RG, Antaki F, Traboulsi EI. Miraldi Utz V, et al. Ophthalmic Genet. 2018 Dec;39(6):671-677. doi: 10.1080/13816810.2018.1533027. Epub 2018 Oct 18. Ophthalmic Genet. 2018. PMID: 30335549 Review.
Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also re …
Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. …