Abstract
Purpose :
Now that Down syndrome patients have nearly normal lifespans, previously unrecognized associations with adult-onset conditions such as Alzheimer disease and certain malignancies are increasingly identified. We observed that 3 of our 122 Moran Eye Center MacTel Genetics study subjects affected by MacTel also have Down syndrome. The potential association of MacTel and Down syndrome has not been noted before beyond two single-case reports in the literature. Here we report in-depth characterization of our MacTel/Down syndrome cohort.
Methods :
We performed complete eye examinations and multimodal imaging (color fundus photographs, OCT, FLIO, macular pigment measurements by dual-wavelength autofluorescence, and fluorescein angiography) on three Down syndrome adults with MacTel and two age-matched Down syndrome adults without MacTel. Blood was collected for comprehensive metabolomics studies.
Results :
The Down syndrome adults with MacTel ranged in age from 33 to 61 years old. All three had MacTel confirmed in a masked fashion by the Moorfields Eye Hospital Reading Centre. Overall, the Down syndrome patients’ had earlier onset MacTel that was more severe than would be expected in an adult without Down syndrome. The age-matched control Down syndrome patients exhibited no retinal imaging abnormalities.
Conclusions :
More cases of MacTel are likely to be found in Down syndrome patients as their lifespan increases. Both conditions are known to have abnormalities in the ceramide and sphingolipid pathways, and our pending metabolomics studies should provide further insights into common pathogenic mechanisms.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.