Corneal topography in Ehlers-Danlos syndrome

Area of Science:

• Ophthalmology
• Genetics
• Corneal Diseases

Background:

• Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders.
• Ocular manifestations in EDS can include corneal abnormalities.
• The prevalence of keratoconus in EDS patients is not well-established.

Purpose of the Study:

• To evaluate the utility of corneal topography combined with slitlamp biomicroscopy and retinoscopy for diagnosing keratoconus in Ehlers-Danlos syndrome patients.
• To determine the incidence of keratoconus in a cohort of individuals with genetically confirmed EDS.

Main Methods:

• Thirty-six patients (72 eyes) with genetically typed EDS underwent slitlamp biomicroscopy, retinoscopy, and videokeratography.
• Corneal topography data, including central corneal power (CCP), inferosuperior asymmetry (I-S) value, and asphericity (Q), were analyzed.
• Axial and profile difference maps were generated to identify keratoconus-suggestive features.

Main Results:

• No cases of keratoconus were identified via slitlamp biomicroscopy in any of the 72 eyes.
• Topographic indexes showed minimal abnormalities: no I-S value exceeded 1.60 D, two eyes had CCP > 46.50 D, and two eyes had Q < -1.00.
• Mildly abnormal profile difference maps were observed in the two eyes with Q values less than -1.00.

Conclusions:

• Slitlamp examination of the cornea revealed no significant findings in any EDS patient.
• Keratoconus appears to be rare in patients with Ehlers-Danlos syndrome, even when assessed with advanced corneal topography.
• The combination of standard and topographic methods did not identify keratoconus in this EDS cohort.