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Coloboma of optic disc

Known as: Optic disc coloboma, Coloboma of optic nerve, OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL 
A cleft of the optic nerve that extends inferiorly. [HPO:probinson, pmid:16219745]
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the « molar tooth sign ». JS is… Expand
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Highly Cited
2013
Highly Cited
2013
PURPOSE To investigate the structural abnormalities of optic disc pits and colobomas by swept-source optical coherence tomography… Expand
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Highly Cited
2009
Highly Cited
2009
BACKGROUND Magnetic resonance microscopy (MRM), magnetic resonance imaging (MRI) at microscopic levels, provides unprecedented… Expand
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Review
2004
Review
2004
AbstractThe principal congenital abnormalities of the optic disc that can significantly impair visual function are excavation of… Expand
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Highly Cited
2001
Highly Cited
2001
The presence of astrocyte precursor cells (APCs) and time course and topography of astrocyte differentiation during development… Expand
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Highly Cited
1999
Highly Cited
1999
Pitx2 is a homeodomain transcription factor that is mutated in Rieger syndrome, a haploinsufficiency disorder affecting eyes and… Expand
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Highly Cited
1999
Highly Cited
1999
PURPOSE Mice are an increasingly important tool in ophthalmic research. As a result of studying spontaneous and induced mutations… Expand
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Highly Cited
1996
Highly Cited
1996
PAX2 is one of nine PAX genes that have been described in vertebrates. Each PAX gene contains a conserved paired box domain that… Expand
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Highly Cited
1995
Highly Cited
1995
PAX2 is a member of a multigene family containing a paired box domain that was initially identified in Drosophila and… Expand
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1988
1988
Optic nerve colobomas can occur as sporadic abnormalities, may be inherited as an autosomal dominant defect, occur as part of… Expand
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