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Achondroplasia associated with bilateral keratoconus.
Ammar M Al Mahmood1, Hind M Al Katan, Ghada Y Al Bin Ali
1Division of Anterior Segment, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
Case Reports in Ophthalmological Medicine
|December 22, 2012
Summary
This case report details a rare instance of bilateral keratoconus, a corneal condition, occurring alongside achondroplasia, a form of dwarfism. Early suspicion of keratoconus in achondroplasia patients with vision loss is crucial for timely intervention.
Area of Science:
- Ophthalmology
- Genetics
- Corneal Diseases
Background:
- Achondroplasia is a genetic disorder affecting bone growth, typically associated with characteristic skeletal features.
- Ocular complications in achondroplasia are not well-documented, presenting a knowledge gap in clinical management.
- Keratoconus is a progressive corneal disease characterized by thinning and protrusion, leading to visual impairment.
Purpose of the Study:
- To report a rare co-occurrence of bilateral keratoconus in a patient with achondroplasia.
- To highlight the importance of considering keratoconus in the differential diagnosis of vision loss in achondroplasia patients.
- To share clinical findings and management outcomes for this rare association.
Main Methods:
- Case presentation of a 26-year-old male with achondroplasia and progressive bilateral vision loss.
- Ophthalmic examination including slit lamp biomicroscopy to assess corneal morphology.
- Diagnostic workup for keratoconus, including contact lens fitting and consideration for surgical intervention.
- Surgical management with penetrating keratoplasty (PKP) for the left eye.
Main Results:
- Slit lamp examination revealed bilateral central corneal protrusion and stromal thinning, indicative of keratoconus.
- Contact lens fitting provided partial visual improvement in the right eye but failed in the left eye.
- Penetrating keratoplasty in the left eye resulted in improved uncorrected visual acuity postoperatively.
- The patient achieved 20/30 uncorrected visual acuity in the operated eye 27 months after PKP.
Conclusions:
- Bilateral keratoconus is a rare but potential ocular complication associated with achondroplasia.
- Ophthalmologists should maintain a high index of suspicion for keratoconus in achondroplasia patients presenting with unexplained vision deterioration.
- Prompt diagnosis and appropriate management, including keratoplasty if necessary, can improve visual outcomes in such cases.
