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
1995 1
1999 2
2002 2
2003 1
2004 1
2006 1
2007 3
2008 3
2009 2
2010 6
2011 2
2012 7
2013 6
2014 1
2015 4
2016 1
2017 1
2018 5
2019 4
2020 9
2021 6
2022 6
2023 9
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

70 results

Results by year

Filters applied: . Clear all
Page 1
Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I. Thomas MG, et al. Br J Ophthalmol. 2022 May;106(5):593-599. doi: 10.1136/bjophthalmol-2020-316348. Epub 2020 Nov 4. Br J Ophthalmol. 2022. PMID: 33148537 Review.
This is a characteristic feature for example in albinism, aniridia, prematurity, foveal hypoplasia with optic nerve decussation defects with or without anterior segment dysgenesis without albinism (FHONDA) and optic nerve hypoplasia. ...The outer segment thic …
This is a characteristic feature for example in albinism, aniridia, prematurity, foveal hypoplasia with optic nerve decussation defects with …
Primary congenital glaucoma: An iridotrabeculodysgenesis?
Sihota R, Mahalingam K, Maurya AK, Sharma A, Bukke AN, Dada T. Sihota R, et al. Indian J Ophthalmol. 2024 Mar 1;72(3):328-334. doi: 10.4103/IJO.IJO_370_23. Epub 2023 Dec 15. Indian J Ophthalmol. 2024. PMID: 38099353 Free PMC article.
PURPOSE: To analyze primary congenital glaucoma (PCG) anterior chamber and angle anomalies over 360 as possible biomarkers of severity and prognosis. METHODS: A cross-sectional observational study was conducted analyzing anterior segment anomalies of PCG patients over 4 ye …
PURPOSE: To analyze primary congenital glaucoma (PCG) anterior chamber and angle anomalies over 360 as possible biomarkers of severity and p …
Glaucoma With Crouzon Syndrome.
Alshamrani AA, Al-Shahwan S. Alshamrani AA, et al. J Glaucoma. 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. J Glaucoma. 2018. PMID: 29557836
BACKGROUND: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis. OBSERVATION: A 10-year-old female patient with Crouzon syndrome and congenit …
BACKGROUND: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FG …
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q. Wang P, et al. Invest Ophthalmol Vis Sci. 2023 Mar 1;64(3):19. doi: 10.1167/iovs.64.3.19. Invest Ophthalmol Vis Sci. 2023. PMID: 36892533 Free PMC article. Review.
Ocular phenotypes of the patients with potential pathogenic variants in MAB21L1 were summarized, and the genotype-phenotype correlation was analyzed through a comprehensive literature review. RESULTS: Three heterozygous missense variants in MAB21L1, predicted to be damagin …
Ocular phenotypes of the patients with potential pathogenic variants in MAB21L1 were summarized, and the genotype-phenotype correlation was …
Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.
Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM. Procopio R, et al. Genes (Basel). 2023 Mar 17;14(3):738. doi: 10.3390/genes14030738. Genes (Basel). 2023. PMID: 36981008 Free PMC article.
IMPORTANCE: The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and glaucoma. ...EVIDENCE REVIEW: A licensed, certified genetic counselor (RP) u …
IMPORTANCE: The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment …
Demographics and histopathological characteristics of enucleated microphthalmic globes.
Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY. Alkatan HM, et al. Sci Rep. 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. Sci Rep. 2022. PMID: 35347187 Free PMC article.
Many papers have been published pertaining to the clinical manifestations and management of this condition; however, few reports have reported detailed histopathological findings, which are the focus of this study, in addition to highlighting the basic demographics in these cases …
Many papers have been published pertaining to the clinical manifestations and management of this condition; however, few reports have report …
Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.
Gauthier AC, Wiggs JL. Gauthier AC, et al. Exp Eye Res. 2020 Jan;190:107893. doi: 10.1016/j.exer.2019.107893. Epub 2019 Dec 11. Exp Eye Res. 2020. PMID: 31836490 Free PMC article. Review.
While all the early-onset glaucoma genes cause severe disease, considerable phenotypic variability is observed among mutations carriers. In particular, FOXC1 genetic variants are associated with a broad range of phenotypes including multiple forms of glaucoma and also syst …
While all the early-onset glaucoma genes cause severe disease, considerable phenotypic variability is observed among mutations carrie …
Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
Villalba MF, Li CM, Pakravan P, Bademci G, Chang TCP. Villalba MF, et al. Am J Ophthalmol. 2023 Jul;251:90-103. doi: 10.1016/j.ajo.2023.02.025. Epub 2023 Mar 10. Am J Ophthalmol. 2023. PMID: 36906093
DESIGN: Comparison of commercial genetic testing panels. METHODS: This observational study gathered publicly available information on NGS-MGP from 5 commercial laboratories for the following: cataracts, glaucoma, anterior segment dysgenesis (ASD), micr …
DESIGN: Comparison of commercial genetic testing panels. METHODS: This observational study gathered publicly available information on …
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A. Choi A, et al. Eur J Hum Genet. 2015 Mar;23(3):337-41. doi: 10.1038/ejhg.2014.119. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939590 Free PMC article.
We used exome sequencing to study a non-consanguineous family with two children who had anterior segment dysgenesis, sclerocornea, microphthalmia, hypotonia and developmental delays. ...We conclude that PXDN sequencing should be considered in microphthalmia w …
We used exome sequencing to study a non-consanguineous family with two children who had anterior segment dysgenesis, sc …
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Rraku E, Kerstjens-Frederikse WS, Swertz MA, Dijkhuizen T, van Ravenswaaij-Arts CMA, Engwerda A. Rraku E, et al. Orphanet J Rare Dis. 2023 Mar 24;18(1):68. doi: 10.1186/s13023-023-02670-0. Orphanet J Rare Dis. 2023. PMID: 36964621 Free PMC article. Review.
RESULTS: The total group shared a common phenotype characterised by ocular anterior segment dysgenesis, vision problems, brain malformations, congenital defects of the cardiac septa and valves, mild to moderate hearing impairment, eye movement abnormalities, …
RESULTS: The total group shared a common phenotype characterised by ocular anterior segment dysgenesis, vision problems …
70 results