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Fundus coloboma

Known as: Coloboma, retinochoroidal, Coloboma of the retina, Choroidoretinal coloboma 
Absence of a region of the retina, retinal pigment epithelium, and choroid. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

18 relations
Arima syndromeBranchio-Oculo-Facial SyndromeCat eye syndromeCongenital Abnormality

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes
Purpose The role of SRY-Box 2 (SOX2) in anophthalmia/microphthalmia (A/M) is well known, with 10%–20% of A/M explained by… 
Review
2009
Review
2009
Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma
Purpose Microphthalmia, anophthalmia, and coloboma are ocular malformations with a significant genetic component. Rx is a… 
2008
2008
Mycophenolate mofetil embryopathy may be dose and timing dependent
Mycophenolate mofetil (MMF) is an immunosuppressive agent that has now been recognized as teratogenic in humans. A pattern of… 
Highly Cited
2008
Highly Cited
2008
Ophthalmological abnormalities in children with congenital disorders of glycosylation type I
Background: Children with congenital disorders of glycosylation (CDG) type Ia frequently present with ocular involvement and… 
2007
2007
Rybp, a polycomb complex-associated protein, is required for mouse eye development
BackgroundRybp (Ring1 and YY1 binding protein) is a zinc finger protein which interacts with the members of the mammalian… 
Review
2003
Review
2003
Ocular and systemic findings associated with optic disc colobomas.
PURPOSE To determine the ocular and systemic anomalies associated with optic disc colobomas. PATIENTS AND METHODS The records… 
2000
2000
High-frequency ultrasonography findings in persistent hyperplastic primary vitreous.
PURPOSE To identify anatomic correlates in eyes with persistent hyperplastic primary vitreous (PHPV) by using high-frequency… 
Highly Cited
1999
Highly Cited
1999
Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.
1999
1999
A second family with Micro syndrome.
We present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized… 
1983
1983
[Joubert's syndrome. Apropos of 5 cases].
Five cases of Joubert syndrome in 2 consanguineous sibships are reported. The characteristic polypnea and respiratory pauses were… 
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