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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

Related topics

Related topics

13 relations
Aicardi's syndromeChromosome 1p36 Deletion SyndromeCongenital failure of fusionFamilial aplasia of the vermis

Broader (3)

Congenital ocular coloboma (disorder)Disorder of the optic nerveOptic Nerve

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Coloboma: Chave Ocular Para Patologia Sistémica
Resumo Introducao: Um coloboma e uma anomalia do desenvolvimento que se caracteriza, na maioria dos casos, por um deficiente… 
Review
2015
Review
2015
Prenatal diagnosis of colobomatous microphthalmos.
Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on… 
2015
2015
Phacoemulsification in the Case of Colobomatous Macrophtalmos with Microcornea Syndrome
Purpose: To report phacoemulsification surgery in a case of colobomatous macrophtalmos with microcornea syndrome. Methods: Case… 
2014
2014
Wolf-Hirschhorn Syndrome with Buphthalmos
Wolf-Hirschhorn syndrome is a 4p-deletion syndrome in which there is reduced growth, abnormal phenotype, developmental delay… 
2012
2012
Moyamoya Disease Associated with Optic Disc Coloboma
Moyamoya disease is a cerebrovascular disorder characterized by progressive stenosis of the distal internal carotid arteries, and… 
2011
2011
[A case of coloboma of optic nerve in newborn].
1998
1998
Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.
We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a… 
1987
1987
Optic nerve pit.
Optic nerve pits are an uncommon congenital anomaly of the optic nerve head. Pits are generally recognized to represent an… 
1986
1986
Arginine-vasopressin in essential hypernatremia
Dynamics of AVP secretion in a 14-year-old girl with essential hypernatremia, psychomotor retardation and optic nerve coloboma… 
1973
1973
[Optical nerve hypoplasia and optic disk coloboma in a young beagle. Case report].