Mapping the corneal thickness and volume in patients with Down syndrome: a comparative population-based study

Area of Science:

• Ophthalmology
• Genetics
• Biometry

Background:

• Down syndrome (DS) is associated with various ocular abnormalities.
• Corneal structure and thickness can be affected in individuals with DS.
• Understanding corneal biometry in DS is crucial for accurate ophthalmic assessments.

Purpose of the Study:

• To measure central-to-peripheral corneal thickness and volume in patients aged 10-30 with Down syndrome (DS).
• To compare these measurements with age- and gender-matched individuals without DS.
• To investigate the influence of age and gender on corneal parameters in the DS population.

Main Methods:

• Corneal thickness and volume were measured in 202 eyes of patients with DS and 190 eyes of controls.
• Parameters included apical and minimum corneal thickness, ring thicknesses (R2, R3, R4), corneal volume at various diameters, and Ambrosio's relational thickness.
• Statistical analysis involved independent sample t-tests and multiple linear regression models.

Main Results:

• Individuals with DS showed significantly lower values for all measured corneal parameters compared to controls (p<0.001).
• Corneal thickness and volume were inversely related to age in both groups.
• Corneal parameters were not significantly related to gender, except for Ambrosio's relational thickness and pachymetric progression index maximum, which were independent of age and gender.

Conclusions:

• Non-keratoconic patients with Down syndrome have thinner corneas with a homogeneous distribution.
• Existing reference ranges for corneal thickness and volume may not be suitable for individuals with DS.
• New reference ranges should be established for the DS population to ensure accurate diagnosis and management.