Microphthalmia or microphthalmos is one of the most common congenital ocular malformations, characterized by a small yet identifiable eye with anatomical abnormalities. This contrasts with anophthalmia or anophthalmos, defined as the complete absence of the eye due to deficient development or arrest of differentiation during earlier stages of development. Congenital microphthalmia with an orbital cyst (or microphthalmia with a cyst) is a rare developmental subtype of microphthalmia characterized by microphthalmia associated with an inferior orbital cyst. This must be differentiated from a congenital cystic eye, also known as anophthalmia with a cyst, which is usually present in the superior orbit and the eye is absent.
Microphthalmos and anophthalmos occur due to abnormality during the early phases of embryonic development. Microphthalmos, anophthalmos, and coloboma (MAC) are a spectrum of congenital developmental anomalies. Visual acuity is often very poor in such cases. Interprofessional collaboration is needed for early detection and prompt management to ensure proper visual outcome, cosmesis, and orbital development. Microphthalmia with an orbital cyst is a debilitating congenital anomaly whose management must be initiated immediately for satisfactory outcomes.
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