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Excerpt from Megalocornea


Synonyms, Key Words, and Related Terms: enlarged cornea, corneal enlargement, anterior megalophthalmos, cataracts, glaucoma

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Background

Megalocornea is a nonprogressive enlargement of the cornea to 13 mm or greater. The cornea and the limbus are enlarged, but the cornea itself is histologically normal. Megalocornea is usually seen as an isolated finding, but it may be associated with other ocular and systemic findings. The additional ocular findings are found in anterior megalophthalmos, which includes an enlarged ciliary ring and crystalline lens in addition to an enlarged cornea.

Pathophysiology

Megalocornea is a developmental anomaly of unknown etiology. Postulated mechanisms of development include a defect in formation of the optic cup in which the anterior tips of the cup fail to fuse, allowing more space for the developing cornea, spontaneous arrest of congenital glaucoma, and exaggerated growth of the cornea. Abnormal collagen synthesis may play a role.

Frequency

United States

No data are available.

International

No data are available.

Mortality/Morbidity

  • Morbidity and mortality can be secondary to the many systemic conditions found in association with megalocornea. See Special Concerns.
  • Ocular morbidity is associated with anterior megalophthalmos. An enlarged ciliary ring causes zonular stretching, leading to phacodonesis, ectopia lentis, iridodonesis, iris stromal hypoplasia and transillumination defects, Krukenberg spindles, and trabecular meshwork pigmentation. Other findings are posterior embryotoxon, Rieger anomaly, goniodysgenesis, and cataracts. Goniodysgenesis and pigment dispersion can contribute to glaucoma.

Sex

Males account for 90% of cases because X-linked recessive inheritance is most common.

Age

Megalocornea is present from birth.

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