Congenital abnormalities of the Cornea

 

Congenital Abnormalities of the Cornea

Ophthalmology High-Yield Essentials

1. Key Developmental Anomalies

Condition Clinical Presentation
Megalocornea Corneal diameter > 13 mm in a non-glaucomatous eye. Usually X-linked recessive.
Microcornea Corneal diameter < 10 mm. Often associated with hyperopia and glaucoma.
Cornea Plana Flat cornea (low keratometry readings). Often associated with sclerocornea.
Sclerocornea The peripheral cornea resembles sclera (non-transparent). Can be bilateral.

2. Important Syndromic Associations

  • Peters Anomaly: Central corneal opacity with an iris adhesion (iridocorneal adhesion). It is a form of anterior segment dysgenesis.
  • Posterior Keratoconus: Rare, non-progressive central posterior corneal indentation.
  • Axenfeld-Rieger Syndrome: Iris anomalies, corneal ectasia, and peripheral anterior synechiae associated with glaucoma risk.

3. NEET PG High-Yield Pearls

  • Megalocornea vs. Buphthalmos: Megalocornea has normal intraocular pressure (IOP); Buphthalmos (congenital glaucoma) presents with high IOP, Haab’s striae, and optic disc cupping.
  • Haab’s Striae: Breaks in the Descemet’s membrane caused by stretching of the eyeball in congenital glaucoma.
  • Cornea Plana: Associated with hyperopia and a higher risk of angle-closure glaucoma due to shallow anterior chambers.