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Inferior chorioretinal coloboma

MedGen UID:
1641158
•Concept ID:
C4703441
•
Congenital Abnormality
HPO: HP:0031613

Definition

Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInferior chorioretinal coloboma

Conditions with this feature

Microphthalmia, isolated, with coloboma 7
MedGen UID:
482657
•Concept ID:
C3281027
•
Disease or Syndrome
Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.
See: Condition Record
Microphthalmia, isolated, with coloboma 7

Recent clinical studies

Diagnosis

Floating-Harbor syndrome with chorioretinal colobomas.
Alanis S, Blair MP, Kaufman LM, Bhat G, Shapiro MJ
Ophthalmic Genet 2024 Apr;45(2):207-209. Epub 2023 Sep 18 doi: 10.1080/13816810.2023.2255895. PMID: 37722826
SOLITARY RETINAL CAPILLARY HEMANGIOMA IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA.
Lasave AF, Deromedis P
Retin Cases Brief Rep 2019 Fall;13(4):320-323. doi: 10.1097/ICB.0000000000000586. PMID: 28358746Free PMC Article
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye.
Cho D, Choi D, Nam W
Korean J Ophthalmol 2011 Oct;25(5):352-4. Epub 2011 Sep 20 doi: 10.3341/kjo.2011.25.5.352. PMID: 21976945Free PMC Article

Clinical prediction guides

SOLITARY RETINAL CAPILLARY HEMANGIOMA IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA.
Lasave AF, Deromedis P
Retin Cases Brief Rep 2019 Fall;13(4):320-323. doi: 10.1097/ICB.0000000000000586. PMID: 28358746Free PMC Article
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye.
Cho D, Choi D, Nam W
Korean J Ophthalmol 2011 Oct;25(5):352-4. Epub 2011 Sep 20 doi: 10.3341/kjo.2011.25.5.352. PMID: 21976945Free PMC Article

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