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Congenital ocular coloboma (disorder)

Known as: Coloboma, Ocular, coloboma eye, Coloboma, uveoretinal 
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
National Institutes of Health

Related topics

Related topics

50 relations
3C syndromeCOACH syndromeCOLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESSCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii

Narrower (25)

Alsing syndromeArima syndromeBaraitser Rodeck Garner syndromeBiemond syndrome II

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the… 
Highly Cited
2010
Highly Cited
2010
Estimating the Cost of Type 1 Diabetes in the U.S.: A Propensity Score Matching Method
Background Diabetes costs represent a large burden to both patients and the health care system. However, few studies that examine… 
Review
2007
Review
2007
Optical coherence tomography use in evaluation of the vitreoretinal interface: a review.
Highly Cited
2005
Highly Cited
2005
Modified osteo-odonto-keratoprosthesis for treatment of corneal blindness: long-term anatomical and functional outcomes in 181 cases.
OBJECTIVE To evaluate long-term anatomical and functional outcomes of a modified osteo-odonto-keratoprosthesis (OOKP) technique… 
Highly Cited
2005
Highly Cited
2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Background: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal… 
Highly Cited
2002
Highly Cited
2002
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity… 
Highly Cited
1999
Highly Cited
1999
Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1.
The Notch signaling pathway is an evolutionarily conserved intercellular signaling mechanism essential for embryonic development… 
Highly Cited
1989
Highly Cited
1989
Spectral reflectance of the human ocular fundus.
Reflectance spectra from discrete sites in the human ocular fundus were measured with an experimental reflectometer in the… 
Highly Cited
1979
Highly Cited
1979
Choanal atresia and associated multiple anomalies.
Highly Cited
1973
Highly Cited
1973
The conjunctival approach to the orbital floor and maxilla in congenital malformation and trauma.
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