Abstract
Purpose :
People with Down syndrome (pwDS) have a high prevalence of early-onset Alzheimer’s disease (AD). With the two-fold increase in life expectancy for pwDS, identifying early biomarkers for AD is needed. Previously we have shown that phenotyping using ultra-widefield retinal imaging (UWFI) has the potential to identify peripheral retinal biomarkers for AD in the general population (PMC8377778). Phenotyping peripheral retina in pwDS using this imaging modality has not been reported, therefore we present the feasibility of UWFI in pwDS.
Methods :
Our cohort comprises of 24 pwDS with no or early signs of clinical dementia. UWFI was performed using the OPTOS P200DTx laser scanning ophthalmoscope. The peripheral retina was graded by a masked, experienced grader (LC) and ten percent of the images were adjudicated by a senior ophthalmologist (TP). Based on their cognitive scores pwDS were divided into two groups, those without (DSnD, CAMCOG>80) and those with (DSD, CAMCOG<80) clinical dementia.
Results :
There was no significant age (DSD 37.09±7.84 vs DSnD 36.43±5.56; p=.849) or sex (males DSD 9[81.8%] vs DSnD 4[57.1%] p=.255) difference between DSD and DSnD groups. All patients required operator assistance to keep their eyes open for acquiring a sufficient quality image. Images could not be taken in 4 cases due to touch phobia and/or lack of compliance, and in 1 case the eyelids obscured the majority of the retina, resulting in 39 gradable images of 20 patients. Peripheral hard drusen were detected on the majority of the images (34 [87.2%]), with 56.7% in DSnD and 43.3% in DSD groups. Most of the images had only a few (<5) hard drusen (24/34). Other peripheral pathologies included: pigmentary changes (8 [20.5%]; DSnD 75%, DSD 25%), haemorrhages (4 [10.3%]; DSnD 25%, DSD 75%). Vitreoretinal degeneration (1), white without pressure (1), RPE atrophy (1) and retinal hole (1) were only detected in DSnD.
Conclusions :
This study proved that UWFI is feasible in pwDS. We generated gradable images despite the need for operator assistance. The use of this imaging modality opens up the possibility of detailed phenotyping of pwDS in the peripheral retina where we found a variety of retinal phenotypes, some with high prevalence.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.