Increased choroidal thickness in adults with Down syndrome

Area of Science:

• Ophthalmology
• Neuroscience
• Genetics

Background:

• Down syndrome (DS) individuals have a higher risk of Alzheimer's disease (AD) due to APP gene triplication.
• Sporadic AD (sAD) is associated with choroidal thinning.
• This study investigates if choroidal thinning is also present in adults with DS.

Purpose of the Study:

• To compare choroidal thickness (ChT) in adults with DS and age-matched controls.
• To explore the relationship between ChT, cognitive status, and cerebral amyloid beta (Aβ) load in DS.

Main Methods:

• Cross-sectional study involving 24 adults with DS and 16 controls.
• Optical coherence tomography (OCT) used to image the posterior pole of the eye.
• Choroidal thickness (ChT) measured and analyzed against cognitive status and cerebral Aβ load.

Main Results:

• Choroidal thickness (ChT) was significantly increased in people with DS (pwDS) compared to controls.
• Increased ChT in DS was associated with gender and positively correlated with cerebral Aβ load in a subset.
• No significant correlation found between ChT and age or cognitive status.

Conclusions:

• Adults with DS show a thicker choroid, contrasting with findings in sporadic AD.
• The role of amyloid beta (Aβ) pathology in these distinct choroidal changes in DS requires further research.