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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2014
2014
Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the << molar tooth sign >>. JS is… (More)
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2013
2013
PURPOSE To investigate the structural abnormalities of optic disc pits and colobomas by swept-source optical coherence tomography… (More)
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2009
2009
BACKGROUND Magnetic resonance microscopy (MRM), magnetic resonance imaging (MRI) at microscopic levels, provides unprecedented… (More)
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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… (More)
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2001
2001
BACKGROUND Oligomeganephronia (OMN) is a rare congenital and usually sporadic anomaly. It is characterized by bilateral renal… (More)
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2001
2001
The presence of astrocyte precursor cells (APCs) and time course and topography of astrocyte differentiation during development… (More)
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2001
2001
OBJECTIVE To characterize the ocular features of renal coloboma syndrome. DESIGN Prospective, observational case series… (More)
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2000
2000
The combination of microphthalmos, optic nerve coloboma, and retrobulbar cyst is very rare. We present such a case, demonstrated… (More)
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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… (More)
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1984
1984
A rhesus monkey with a congenital coloboma of the optic nerve head associated with serous macular detachment underwent… (More)
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