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
2019 1
2020 2
2021 2
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ, Chiang WJ, Kroeger H, Bi CX, Chao DL, Skowronska-Krawczyk D, Mastey RR, Tsang SH, Chea L, Kim K, Lambert SR, Grandjean JM, Baumann B, Audo I, Kohl S, Moore AT, Wiseman RL, Carroll J, Lin JH. Lee EJ, et al. JCI Insight. 2020 Apr 9;5(7):e136041. doi: 10.1172/jci.insight.136041. JCI Insight. 2020. PMID: 32271167 Free PMC article. Clinical Trial.
Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting from infancy; furthermore, ACHM is associated with bilateral foveal hypoplasia and absent or severely reduced cone photoreceptor function on electroretinography. ...
Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting from infancy; furthermore, ACHM is associated with bi …
Expanding the phenotype of mucopolysaccharidosis type II retinopathy.
Kowalski T, Ruddle JB, de Jong G, Mack HG. Kowalski T, et al. Ophthalmic Genet. 2021 Oct;42(5):631-636. doi: 10.1080/13816810.2021.1938141. Epub 2021 Jul 12. Ophthalmic Genet. 2021. PMID: 34251974
One patient had bilateral foveoschisis and the other had mild foveal hypoplasia. Electroretinography showed a negative response in the patient with foveoschisis and reduced amplitudes in the patient with foveal hypoplasia.Conclusions: These two patient …
One patient had bilateral foveoschisis and the other had mild foveal hypoplasia. Electroretinography showed a negative respons …
Artificial iris implantation in congenital aniridia: A systematic review.
Romano D, Bremond-Gignac D, Barbany M, Rahman A, Mauring L, Semeraro F, Cursiefen C, Lagali N, Romano V. Romano D, et al. Surv Ophthalmol. 2023 Jul-Aug;68(4):794-808. doi: 10.1016/j.survophthal.2022.11.001. Epub 2022 Nov 12. Surv Ophthalmol. 2023. PMID: 36379301 Free article.
Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular morbidities such as cataract, keratopathy, optic nerve and foveal hypoplasia, and nystagmus. The iris …
Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existin …
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
Currant H, Hysi P, Fitzgerald TW, Gharahkhani P, Bonnemaijer PWM, Senabouth A, Hewitt AW; UK Biobank Eye and Vision Consortium; International Glaucoma Genetics Consortium; Atan D, Aung T, Charng J, Choquet H, Craig J, Khaw PT, Klaver CCW, Kubo M, Ong JS, Pasquale LR, Reisman CA, Daniszewski M, Powell JE, Pébay A, Simcoe MJ, Thiadens AAHJ, van Duijn CM, Yazar S, Jorgenson E, MacGregor S, Hammond CJ, Mackey DA, Wiggs JL, Foster PJ, Patel PJ, Birney E, Khawaja AP. Currant H, et al. PLoS Genet. 2021 May 12;17(5):e1009497. doi: 10.1371/journal.pgen.1009497. eCollection 2021 May. PLoS Genet. 2021. PMID: 33979322 Free PMC article.
We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were associated. We additionally associate these three loci with visual acuity. In contrast to the Mendelian causes of severe foveal h …
We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were …
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.
Gao X, Liu T, Cheng X, Dai A, Liu W, Li R, Zhang M. Gao X, et al. Mol Med Rep. 2020 Jan;21(1):240-248. doi: 10.3892/mmr.2019.10813. Epub 2019 Nov 12. Mol Med Rep. 2020. PMID: 31746431 Free PMC article. Clinical Trial.
A total of 18 family members (nine affected patients and nine normal subjects) from Hainan, China, were recruited to the present study in December 2017. A detailed clinical ophthalmic examination was performed for all participants, including a visual acuity test, anterior …
A total of 18 family members (nine affected patients and nine normal subjects) from Hainan, China, were recruited to the present study in De …
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium. Zobor D, et al. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427. Invest Ophthalmol Vis Sci. 2017. PMID: 28159970
PURPOSE: The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. METHODS: Thirty-six patients (age 7-56 years) with complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examine …
PURPOSE: The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a …