Congenital Abnormality
coloboma Audio
col·o·bo·ma
Subclass of:
Eye Diseases, Hereditary; Eye Abnormalities
Etymology:
Greek koloboma = an imperfection
In ophthalmology, applied to a congenital defect of the eye.
Definitions related to congenital ocular coloboma (disorder):
  • (coloboma) A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2025
  • (coloboma) Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
  • (coloboma of the eye) An abnormality in which a part of a structure in one or both eyes is missing.
    NCI
    U.S. National Cancer Institute, 2021
  • Coloboma, failure of one or more structures in the eye to fuse during embryonic life, creating a congenital fissure in that eye. Frequently several structures are fissured: the choroid (the pigmented middle layer of the wall of the eye), the retina (the light-sensitive layer of tissue that lines...
    Encyclopedia Britannica
    Encyclopedia Britannica, Inc., 2025
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This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.