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
1947 1
1948 1
1953 1
1955 2
1962 3
1963 4
1964 5
1965 13
1966 6
1967 12
1968 14
1969 21
1970 14
1971 32
1972 15
1973 21
1974 31
1975 44
1976 39
1977 58
1978 48
1979 47
1980 47
1981 41
1982 52
1983 66
1984 57
1985 73
1986 50
1987 59
1988 48
1989 67
1990 95
1991 91
1992 91
1993 103
1994 117
1995 123
1996 121
1997 121
1998 152
1999 184
2000 165
2001 184
2002 151
2003 189
2004 211
2005 250
2006 258
2007 284
2008 303
2009 290
2010 315
2011 330
2012 357
2013 392
2014 428
2015 472
2016 489
2017 519
2018 517
2019 585
2020 630
2021 661
2022 679
2023 551
2024 269

Text availability

Article attribute

Article type

Publication date

Search Results

10,357 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital anomaly of eye"
Page 1
Approach to childhood glaucoma: A review.
Karaconji T, Zagora S, Grigg JR. Karaconji T, et al. Clin Exp Ophthalmol. 2022 Mar;50(2):232-246. doi: 10.1111/ceo.14039. Epub 2022 Jan 25. Clin Exp Ophthalmol. 2022. PMID: 35023613 Review.
This review will be based on the work of the childhood glaucoma research network (CGRN) and will focus on the diagnosis and management of the most common types of childhood glaucoma. These include primary congenital glaucoma (PCG) and juvenile open angle glaucoma (JOAG) as …
This review will be based on the work of the childhood glaucoma research network (CGRN) and will focus on the diagnosis and management of th …
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. ...
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dys …
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
FOXC1-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia/early delay and feeding disorders with structu …
FOXC1-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of …
Axenfeld-Rieger syndrome.
Seifi M, Walter MA. Seifi M, et al. Clin Genet. 2018 Jun;93(6):1123-1130. doi: 10.1111/cge.13148. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28972279 Review.
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes, including denta …
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anteri …
Peter's anomaly-A homeotic gene disorder.
Kylat RI. Kylat RI. Acta Paediatr. 2022 May;111(5):948-951. doi: 10.1111/apa.16260. Epub 2022 Jan 31. Acta Paediatr. 2022. PMID: 35044009 Review.
Peter's anomaly is a rare form of congenital anterior segment dysgenesis of the eye. Varying degrees of central corneal opacity and lenticulo-corneal or irido-corneal synechiae are the key hallmarks. The association of Peter's anomaly along with short …
Peter's anomaly is a rare form of congenital anterior segment dysgenesis of the eye. Varying degrees of central corneal …
Focal choroidal excavation: review of literature.
Verma S, Kumar V, Azad S, Bhayana AA, Surve A, Kumar S, Agarwal P, Chawla R, Venkatesh P. Verma S, et al. Br J Ophthalmol. 2021 Aug;105(8):1043-1048. doi: 10.1136/bjophthalmol-2020-316992. Epub 2020 Aug 11. Br J Ophthalmol. 2021. PMID: 32788327 Review.
These are mostly present in macular region without evidence of accompanying scleral ectasia or posterior staphyloma. Though initially considered to be congenital, increasing number of cases have been identified in association with other choroidal pathologies such as centra …
These are mostly present in macular region without evidence of accompanying scleral ectasia or posterior staphyloma. Though initially consid …
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV. Reis LM, et al. Genes (Basel). 2023 Oct 17;14(10):1948. doi: 10.3390/genes14101948. Genes (Basel). 2023. PMID: 37895297 Free PMC article.
Axenfeld-Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities. ...Anterior segment anomalies are not currently associated with USP9X, yet our cases demonstrate ARA, congenital glaucoma, corneal neo …
Axenfeld-Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities. . …
Optic Disc Pit Maculopathy: A Review.
Kalogeropoulos D, Ch'ng SW, Lee R, Elaraoud I, Purohit M, Felicida V, Mathew M, Ajith-Kumar N, Sharma A, Mitra A. Kalogeropoulos D, et al. Asia Pac J Ophthalmol (Phila). 2019 May-Jun;8(3):247-255. doi: 10.22608/APO.2018473. Asia Pac J Ophthalmol (Phila). 2019. PMID: 31179667 Free article. Review.
Optic disc pit (ODP) is a rare congenital anomaly of the optic disc that can be associated with maculopathy leading to progressive visual deterioration. ...
Optic disc pit (ODP) is a rare congenital anomaly of the optic disc that can be associated with maculopathy leading to progres …
Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment.
Nischal KK. Nischal KK. Cornea. 2015 Oct;34 Suppl 10:S24-34. doi: 10.1097/ICO.0000000000000552. Cornea. 2015. PMID: 26352876 Review.
Iridocorneal adhesions (Peters anomaly 1) are often avascular, whereas keratolenticular adhesions (Peters anomaly 2) are usually vascularized. Children with a known molecular diagnosis can have iridocorneal adhesion in one eye and keratolenticular adhesion in …
Iridocorneal adhesions (Peters anomaly 1) are often avascular, whereas keratolenticular adhesions (Peters anomaly 2) are usual …
Congenital eye anomalies: More mosaic than thought?
Ohuchi H, Sato K, Habuta M, Fujita H, Bando T. Ohuchi H, et al. Congenit Anom (Kyoto). 2019 May;59(3):56-73. doi: 10.1111/cga.12304. Epub 2018 Aug 21. Congenit Anom (Kyoto). 2019. PMID: 30039880 Review.
In this review, we first look at the development of the eye, and we highlight seminal reports regarding archetypal gene defects underlying three developmental ocular disorders in humans: (1) holoprosencephaly (HPE), with cyclopia being exhibited in the most severe cases; ( …
In this review, we first look at the development of the eye, and we highlight seminal reports regarding archetypal gene defects under …
10,357 results
You have reached the last available page of results. Please see the User Guide for more information.