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
1976 1
1977 1
1981 1
1982 3
1983 1
1984 1
1989 3
1991 2
1993 6
1994 4
1995 1
1996 1
1997 2
1998 4
1999 2
2000 2
2001 3
2002 5
2003 4
2004 1
2005 3
2006 4
2007 4
2008 7
2009 4
2010 4
2011 9
2012 14
2013 12
2014 10
2015 9
2016 9
2017 12
2018 11
2019 7
2020 14
2021 22
2022 18
2023 11
2024 7

Text availability

Article attribute

Article type

Publication date

Search Results

201 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Aniridia 3"
Page 1
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W, He XD, Yang ZT, Han DM, Sun Y, Chen YX, Han XT, Guo SC, Ma YT, Jin X, Yang HM, Gao Y, Wang ZS, Li JK, He W. Li W, et al. Invest Ophthalmol Vis Sci. 2023 Feb 1;64(2):5. doi: 10.1167/iovs.64.2.5. Invest Ophthalmol Vis Sci. 2023. PMID: 36729443 Free PMC article.
The genetic etiology of 6.76% (84/1243) of the trio was attributed to disease-causative DNMs, and the top 3 subgroups with the highest incidence of DNM were aniridia (n = 40%), Marfan syndrome/ectopia lentis (n = 38.78%), and retinoblastoma (n = 37.04%). The top 10 …
The genetic etiology of 6.76% (84/1243) of the trio was attributed to disease-causative DNMs, and the top 3 subgroups with the highes …
Congenital Aniridia and Ocular motility.
Alafaleq M, Sordello L, Bremond-Gignac D. Alafaleq M, et al. Am J Ophthalmol. 2023 Mar;247:145-151. doi: 10.1016/j.ajo.2022.11.003. Epub 2022 Nov 11. Am J Ophthalmol. 2023. PMID: 36375586
RESULTS: Strabismus was diagnosed in 150 patients; 73 were included in the study (28 males [38%] and 45 females [62%]), with a mean age of 11.02 years. The mean follow-up was 24 months. Thirty-six (49.3%) presented with familial aniridia, and 37 (50.7%) presented wi …
RESULTS: Strabismus was diagnosed in 150 patients; 73 were included in the study (28 males [38%] and 45 females [62%]), with a mean age of 1 …
Management of aniridia and iris defects: an update on iris prosthesis options.
Weissbart SB, Ayres BD. Weissbart SB, et al. Curr Opin Ophthalmol. 2016 May;27(3):244-9. doi: 10.1097/ICU.0000000000000253. Curr Opin Ophthalmol. 2016. PMID: 26871656 Review.
PURPOSE OF REVIEW: This review examines the advantages and limitations of the various iris prostheses as treatment for aniridia. RECENT FINDINGS: Multiple prosthetic iris devices have been developed for implantation in eyes with aniridia. However, none is currently …
PURPOSE OF REVIEW: This review examines the advantages and limitations of the various iris prostheses as treatment for aniridia. RECE …
Clinical phenocopies of albinism.
Dumitrescu AV, Pfeifer WL, Drack AV. Dumitrescu AV, et al. J AAPOS. 2021 Aug;25(4):220.e1-220.e8. doi: 10.1016/j.jaapos.2021.03.015. Epub 2021 Jul 17. J AAPOS. 2021. PMID: 34280564
Of the 8 patients, 4 manifested progressive, preschool-age-onset myopia. Other associated clinical features included hearing loss (3), seizures (1), abnormal chest x-ray (1) and easy bruising (2). During follow-up, additional clinical features and genetic testing proved th …
Of the 8 patients, 4 manifested progressive, preschool-age-onset myopia. Other associated clinical features included hearing loss (3) …
Transcription factors in disease.
Engelkamp D, van Heyningen V. Engelkamp D, et al. Curr Opin Genet Dev. 1996 Jun;6(3):334-42. doi: 10.1016/s0959-437x(96)80011-6. Curr Opin Genet Dev. 1996. PMID: 8791518 Review.
Although the mutational spectrum is variable, many of the reported cases involve clear loss-of-function mutations-such as Waardenburg syndrome type 1, aniridia and Rubinstein-Taybi syndrome-suggesting that the genetic mechanism involved in disease is haplo-insufficiency. . …
Although the mutational spectrum is variable, many of the reported cases involve clear loss-of-function mutations-such as Waardenburg syndro …
Clinical outcomes and visual prognostic factors in congenital aniridia.
Jacobson A, Mian SI, Bohnsack BL. Jacobson A, et al. BMC Ophthalmol. 2022 May 25;22(1):235. doi: 10.1186/s12886-022-02460-5. BMC Ophthalmol. 2022. PMID: 35614435 Free PMC article.
BACKGROUND: Evaluate outcomes and identify prognostic factors in congenital aniridia. METHODS: Retrospective interventional case series of patients with congenital aniridia treated between 2012-2020. ...Kaplan-Meier survival curves, Wilcoxon test, and univariate and …
BACKGROUND: Evaluate outcomes and identify prognostic factors in congenital aniridia. METHODS: Retrospective interventional case seri …
Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.
Magan T, Tanner A, Fajardo-Sanchez J, Lim KS, Goyal S, Rodrigues I, Amaya L, Trikha S, Kulkarni A, Hammond C, Lascaratos G, Yu-Wai-Man C. Magan T, et al. Eur J Ophthalmol. 2022 Sep;32(5):2920-2927. doi: 10.1177/11206721211073208. Epub 2022 Jan 10. Eur J Ophthalmol. 2022. PMID: 35001688 Free PMC article.
Sixteen eyes (39.0%) had one or more glaucoma surgery or laser procedures for advanced glaucoma, and the long-term follow-up was 12.8 3.6 years. There was a significant decrease in postoperative IOP (mmHg) at 3 months (16.5 1.6; p = 0.0067), 6 months (18.7 2.1; p = …
Sixteen eyes (39.0%) had one or more glaucoma surgery or laser procedures for advanced glaucoma, and the long-term follow-up was 12.8 3 …
Short- and Long-term Results of Glaucoma Valve Implantation for Aniridia-related Glaucoma: A Case Series and Literature Review.
Soyugelen Demirok G, Ekşioğlu Ü, Yakın M, Kaderli A, Kaderli ST, Örnek F. Soyugelen Demirok G, et al. Turk J Ophthalmol. 2019 Sep 3;49(4):183-187. doi: 10.4274/tjo.galenos.2019.07348. Turk J Ophthalmol. 2019. PMID: 31486604 Free PMC article. Review.
Mean IOP was 33.0012.11 (range 22-50) mmHg just before the GDD implantation with a mean of 3.51.2 medications. Mean IOP 1 month after implantation was 16.334.22 (range 12-24) mmHg with a mean of 1.50.8 medications; at 12 months, mean IOP was 19.504.76 (range 15-26) mmHg wi …
Mean IOP was 33.0012.11 (range 22-50) mmHg just before the GDD implantation with a mean of 3.51.2 medications. Mean IOP 1 month after …
Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30-year SIOP-RTSG experience.
Hol JA, Jongmans MCJ, Sudour-Bonnange H, Ramírez-Villar GL, Chowdhury T, Rechnitzer C, Pal N, Schleiermacher G, Karow A, Kuiper RP, de Camargo B, Avcin S, Redzic D, Wachtel A, Segers H, Vujanic GM, van Tinteren H, Bergeron C, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM; International Society of Pediatric Oncology Renal Tumor Study Group (SIOP-RTSG). Hol JA, et al. Cancer. 2021 Feb 15;127(4):628-638. doi: 10.1002/cncr.33304. Epub 2020 Nov 4. Cancer. 2021. PMID: 33146894 Free PMC article.
BACKGROUND: WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare contiguous gene deletion syndrome with a 45% to 60% risk of developing Wilms tumor (WT). ...Events (n = 6) did not include relapse, but contralateral tum …
BACKGROUND: WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare contiguous ge …
Pediatric glaucoma in aniridia in a population of Egyptian children.
Bayoumi N, Elsayed EN, Khalil AK. Bayoumi N, et al. J AAPOS. 2023 Aug;27(4):194.e1-194.e6. doi: 10.1016/j.jaapos.2023.06.005. Epub 2023 Jul 26. J AAPOS. 2023. PMID: 37499898
The mean intraocular pressure (IOP), corneal diameter, cup:disk ratio, and axial length on presentation were 16.4 10.3 mm Hg, 11.4 1.3 mm, 0.4 0.3, and 22.43 2.6 mm Hg. Of eyes with IOP and cup:disk ratio data at presentation, 23 (30%) were diagnosed with gla …
The mean intraocular pressure (IOP), corneal diameter, cup:disk ratio, and axial length on presentation were 16.4 10.3 mm Hg, 11.4 1. …
201 results