U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...