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
1994 1
1997 1
1998 1
2008 1
2015 1
2017 1
2020 1
2021 1
2022 1
2023 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M, Pattnaik BR. Kabra M, et al. Int J Mol Sci. 2020 Sep 21;21(18):6925. doi: 10.3390/ijms21186925. Int J Mol Sci. 2020. PMID: 32967234 Free PMC article. Review.
Here, we review the role of different mutations in switching a "sensing" ion channel to "non-sensing," leading to ocular channelopathies like Leber's congenital amaurosis 16 (LCA16), cone dystrophy, congenital stationary night blindness (CSNB), …
Here, we review the role of different mutations in switching a "sensing" ion channel to "non-sensing," leading to ocular channelopathies lik …
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S. Aoun M, et al. Int J Mol Sci. 2021 Jul 5;22(13):7207. doi: 10.3390/ijms22137207. Int J Mol Sci. 2021. PMID: 34281261 Free PMC article. Review.
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. IRDs are cause …
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congeni …
Alström syndrome. Report of 22 cases and literature review.
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Russell-Eggitt IM, et al. Ophthalmology. 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. Ophthalmology. 1998. PMID: 9663233 Review.
Initially, a diagnosis of cone-rod dystrophy, achromatopsia, Leber's congenital amaurosis, or Bardet-Biedl syndrome may be made. ...CONCLUSIONS: A diagnosis of AS should be considered in infantile cone and rod retinal dystrophy, particularly if the weight is …
Initially, a diagnosis of cone-rod dystrophy, achromatopsia, Leber's congenital amaurosis, or Bardet-Biedl syndrome may …
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD. Sallum JMF, et al. Adv Ther. 2022 Mar;39(3):1179-1198. doi: 10.1007/s12325-021-02036-7. Epub 2022 Jan 30. Adv Ther. 2022. PMID: 35098484 Free PMC article. Review.
Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gene are often clinically diagnosed as retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA). This study aimed t …
Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gen …
The clinical evaluation of infantile nystagmus: What to do first and why.
Bertsch M, Floyd M, Kehoe T, Pfeifer W, Drack AV. Bertsch M, et al. Ophthalmic Genet. 2017 Jan-Feb;38(1):22-33. doi: 10.1080/13816810.2016.1266667. Ophthalmic Genet. 2017. PMID: 28177849 Free PMC article. Review.
RESULTS: A total of 284 charts were identified; 202 met inclusion criteria. The three most common causes were Albinism (19%), Leber Congenital Amaurosis (LCA; 14%), and Non-LCA retinal dystrophy (13%). ...The most common first test was MRI (74/202) with a dia …
RESULTS: A total of 284 charts were identified; 202 met inclusion criteria. The three most common causes were Albinism (19%), Leber …
Barriers for retinal gene therapy: separating fact from fiction.
Kumar-Singh R. Kumar-Singh R. Vision Res. 2008 Jul;48(16):1671-1680. doi: 10.1016/j.visres.2008.05.005. Epub 2008 Jun 18. Vision Res. 2008. PMID: 18565565 Free PMC article. Review.
Furthermore, AAV is known to generate limiting immune responses in humans despite the absence of similar immune responses in preclinical canine and murine studies. Three clinical trials to treat Leber's congenital amaurosis using AAV are under way. A clinical …
Furthermore, AAV is known to generate limiting immune responses in humans despite the absence of similar immune responses in preclinical can …
Skin ERGs: their effectiveness in paediatric visual assessment, confounding factors, and comparison with ERGs recorded using various types of corneal electrode.
Kriss A. Kriss A. Int J Psychophysiol. 1994 May;16(2-3):137-46. doi: 10.1016/0167-8760(89)90040-8. Int J Psychophysiol. 1994. PMID: 8089032 Review.
There are strong diagnostic advantages in recording the VEP concurrently with the skin ERG, particularly in young children. Examples of recordings in Leber's amaurosis, delayed visual maturation, albinism, optic nerve hypoplasia, achromatopsia add X-linked congen …
There are strong diagnostic advantages in recording the VEP concurrently with the skin ERG, particularly in young children. Examples of reco …
The retina: genetic studies of several retinopathies located on the short arm of chromosome 17.
Joshi AR, Mullen L, Small KW. Joshi AR, et al. Curr Opin Neurol. 1997 Feb;10(1):31-5. Curr Opin Neurol. 1997. PMID: 9099524 Review.
The short arm of chromosome 17 has emerged as a hot spot where several phenotypically distinct retinal disorders have been mapped in the past year. An autosomal dominant retinitis pigmentosa, Leber's congenital amaurosis, autosomal dominant cone degeneration, …
The short arm of chromosome 17 has emerged as a hot spot where several phenotypically distinct retinal disorders have been mapped in the pas …