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coloboma (ocular coloboma, uveoretinal coloboma, coloboma of iris, choroid & retina)

Defect of the eye, congenital, pathologic or artificial. Etiology: see pathology Epidemiology: - severe colobomatous malformations may cause as much as 10% of the childhood blindness - coloboma of the optic nerve may occur Pathology: - a group of malformations resulting from abnormal morphogenesis of the optic cup & stalk, & fusion of the fetal fissure (optic fissure) Clinical manifestations: - clinical presentation of ocular coloboma is variable - some individuals may present with minimal defects in the anterior iris leaf without other ocular defects - more complex malformations create a combination of iris, uveoretinal &/or optic nerve defects with or without microphthalmia or even anophthalmia

Specific

cleft iris

General

eye disease (ophthalmopathy)

Database Correlations

OMIM correlations

References

  1. Stedman's Medical Dictionary 26th ed, Williams & Wilkins, Baltimore, 1995
  2. OMIM :accession 120200
  3. UniProt :accession P26367