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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1946 1
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1964 1
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1966 5
1967 7
1968 8
1969 10
1970 7
1971 8
1972 4
1973 11
1974 18
1975 15
1976 13
1977 18
1978 19
1979 25
1980 18
1981 18
1982 20
1983 17
1984 17
1985 16
1986 9
1987 10
1988 13
1989 14
1990 16
1991 16
1992 22
1993 16
1994 20
1995 15
1996 26
1997 29
1998 28
1999 27
2000 31
2001 45
2002 31
2003 46
2004 49
2005 44
2006 57
2007 62
2008 57
2009 49
2010 58
2011 58
2012 80
2013 88
2014 81
2015 84
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2023 35
2024 21

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1,957 results

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Quoted phrase not found in phrase index: "Abnormal anterior eye segment morphology"
Page 1
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.
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated …
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic fe …
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, i …
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the ant …
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM. Meuwissen ME, et al. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.
COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities, indicated as "COL4A1 mutation-related disorders." Genetic counseling is challenging because of broad phenotypic variatio …
COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular …
Anterior segment dysgenesis: Insights into the genetics and pathogenesis.
Kaushik S, Dubey S, Choudhary S, Ratna R, Pandav SS, Khan AO. Kaushik S, et al. Indian J Ophthalmol. 2022 Jul;70(7):2293-2303. doi: 10.4103/ijo.IJO_3223_21. Indian J Ophthalmol. 2022. PMID: 35791109 Free PMC article. Review.
The fundamental pathophysiology of all childhood glaucoma is impaired outflow through the trabecular meshwork. Anterior segment Dysgeneses (ASD) are a group of non-acquired ocular anomalies associated with glaucoma, characterized by developmental abnormalities …
The fundamental pathophysiology of all childhood glaucoma is impaired outflow through the trabecular meshwork. Anterior segment …
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
Ma AS, Grigg JR, Jamieson RV. Ma AS, et al. Hum Genet. 2019 Sep;138(8-9):899-915. doi: 10.1007/s00439-018-1935-7. Epub 2018 Sep 21. Hum Genet. 2019. PMID: 30242500 Review.
Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. ...We also highlight phenotype …
Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld …
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. ...
Peter's anomaly is a rare form of congenital anterior segment dysgenesis of the eye. Varying degrees of central …
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 …
Simple microphthalmos.
Weiss AH, Kousseff BG, Ross EA, Longbottom J. Weiss AH, et al. Arch Ophthalmol. 1989 Nov;107(11):1625-30. doi: 10.1001/archopht.1989.01070020703032. Arch Ophthalmol. 1989. PMID: 2818284
Anterior segment length was normal in most patients while posterior segment length was at least 2 SDs below the mean in all patients, indicating that disproportionate reduction in posterior segment length accounted for the microphthalmos. The normal va …
Anterior segment length was normal in most patients while posterior segment length was at least 2 SDs below the mean in …
Diagnosis and treatment of microspherophakia.
Yu X, Chen W, Xu W. Yu X, et al. J Cataract Refract Surg. 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. J Cataract Refract Surg. 2020. PMID: 32694307
As a rare congenital disease, microspherophakia (MSP) is characterized by small and spherically shaped crystalline lenses. ...
As a rare congenital disease, microspherophakia (MSP) is characterized by small and spherically shaped crystalline lenses. ...
1,957 results