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
1980 1
2002 1
2004 1
2005 1
2006 1
2010 1
2015 1
2021 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Page 1
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH, Yang CM, Yang CH, Hou YC, Chen TC. Huang CH, et al. Genes (Basel). 2021 Aug 19;12(8):1261. doi: 10.3390/genes12081261. Genes (Basel). 2021. PMID: 34440435 Free PMC article. Review.
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. ...By reviewing th …
Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with …
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q. Yi Z, et al. Exp Eye Res. 2021 Jul;208:108637. doi: 10.1016/j.exer.2021.108637. Epub 2021 May 26. Exp Eye Res. 2021. PMID: 34048777
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common form of inherited retinopathy. ...The obtained data in this study will be of value in counselling patients and designing future therapeut …
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common …
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Galvin JA, et al. Retina. 2005 Oct-Nov;25(7):919-29. doi: 10.1097/00006982-200510000-00016. Retina. 2005. PMID: 16205573
PURPOSE: To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis (LCA). METHODS: One hundred ten LCA patients were screened for various probable disease-causing gene sequence variations. ...Neurologic, i …
PURPOSE: To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis …
The differential diagnosis of visual disorders in patients presenting with marked symptoms but with no observable ocular abnormality.
Sherman J, Richter SJ, Epstein A. Sherman J, et al. Am J Optom Physiol Opt. 1980 Aug;57(8):516-22. doi: 10.1097/00006324-198008000-00005. Am J Optom Physiol Opt. 1980. PMID: 7006401 Review.
The conditions reviewed are Stargardt's macular degeneration, Leber's congenital amaurosis, albinism, foveal hypoplasia, retinitis pigmentosa, retrobulbar neuritis, amblyopia, and problems of psychogenic origin....
The conditions reviewed are Stargardt's macular degeneration, Leber's congenital amaurosis, albinism, foveal hypoplasia …
Visual improvement in Leber congenital amaurosis and the CRX genotype.
Koenekoop RK, Loyer M, Dembinska O, Beneish R. Koenekoop RK, et al. Ophthalmic Genet. 2002 Mar;23(1):49-59. doi: 10.1076/opge.23.1.49.2200. Ophthalmic Genet. 2002. PMID: 11910559
PURPOSE: In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. ...Perimetry revealed 60 degrees fields with the V4e target at ages 9 and 10 years, with a new 20 d …
PURPOSE: In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phe …
Ocular gene therapy: an evaluation of recombinant adeno-associated virus-mediated gene therapy interventions for the treatment of ocular disease.
Roy K, Stein L, Kaushal S. Roy K, et al. Hum Gene Ther. 2010 Aug;21(8):915-27. doi: 10.1089/hum.2010.041. Hum Gene Ther. 2010. PMID: 20384478 Review.
The success of three separate phase I clinical trials investigating a gene therapy intervention for the treatment of the retinal degenerative disorder Leber's congenital amaurosis (LCA) has unveiled the therapeutic potential of gene therapy …
The success of three separate phase I clinical trials investigating a gene therapy intervention for the treatment of the retinal dege …
Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.
Jin Y, Li S, Jiang Z, Sun L, Huang L, Zhang T, Liu X, Ding X. Jin Y, et al. Invest Ophthalmol Vis Sci. 2024 Mar 5;65(3):11. doi: 10.1167/iovs.65.3.11. Invest Ophthalmol Vis Sci. 2024. PMID: 38466290 Free PMC article.
Clinical information, genetic analysis, and comprehensive ophthalmic examinations including SS-OCT and SS-OCT angiography (SS-OCTA) were conducted. RESULTS: A total of 81.8% (9/11) of CRB1-eoRD presented as Leber congenital amaurosis (LCA). ...The insi …
Clinical information, genetic analysis, and comprehensive ophthalmic examinations including SS-OCT and SS-OCT angiography (SS-OCTA) were con …
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis.
Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, Cideciyan AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW. Jacobson SG, et al. Hum Gene Ther. 2006 Aug;17(8):845-58. doi: 10.1089/hum.2006.17.845. Hum Gene Ther. 2006. PMID: 16942444
Leber congenital amaurosis (LCA) is a molecularly heterogeneous disease group that leads to blindness. ...
Leber congenital amaurosis (LCA) is a molecularly heterogeneous disease group that leads to blindness. ...
Visual electrophysiological screening in diagnosing infants with congenital nystagmus.
Brecelj J, Stirn-Kranjc B. Brecelj J, et al. Clin Neurophysiol. 2004 Feb;115(2):461-70. doi: 10.1016/j.clinph.2003.10.011. Clin Neurophysiol. 2004. PMID: 14744589
RESULTS: In infants less than 1 year of age, retinal dysfunction was recognised in 36% of infants who had been diagnosed as Leber's congenital amaurosis, achromatopsia and retinal dystrophy; postretinal dysfunction was recognised in 32% of infants who had bee …
RESULTS: In infants less than 1 year of age, retinal dysfunction was recognised in 36% of infants who had been diagnosed as Leber's …
Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
Lorenz B, Tavares J, van den Born LI, Marques JP, Scholl HPN; EVICR.net Group. Lorenz B, et al. Ophthalmic Res. 2021;64(5):740-753. doi: 10.1159/000515688. Epub 2021 Mar 8. Ophthalmic Res. 2021. PMID: 33684911 Free article.
Fifty-nine percent of mutations were ACMG Class 4 and 5 (at least 1 allele), 82.8% reported previously and 17.2% novel. Referral diagnoses (the mean per center) were Leber congenital amaurosis (38.2%), early-onset severe retinal degeneration (16.8 …
Fifty-nine percent of mutations were ACMG Class 4 and 5 (at least 1 allele), 82.8% reported previously and 17.2% novel. Referral diag …
11 results