Rare Diseases Symptoms Automatic Extraction

Achondroplasia associated with bilateral keratoconus.

[achondroplasia]

We report a rare case of bilateral keratoconus in association with achondroplasia. A 26-year-old male, with a known case of achondroplasia, complained of bilateral gradual deterioration in vision for the past few years. Slit lamp biomicroscopy showed bilateral central corneal protrusion and stromal thinning at the apex consistent with keratoconus. a trial of hard contact lens fitting failed to improve VA in the left eye (LE). Right eye (RE) improved to 20/25. The patient underwent penetrating keratoplasty (PKP) in his LE. Twenty-seven months postoperatively, uncorrected visual acuity (UCVA) was 20/30. Ophthalmologists should be aware that patients with achondroplasia who complain of poor vision should be suspected of having keratoconus once other more common conditions are ruled out.

Diseases presenting "keratoconus" symptom

  • achondroplasia
  • coats disease
  • cohen syndrome
  • lamellar ichthyosis

This symptom has already been validated