The prevalence of retinal anomalies in children diagnosed with Down Syndrome (DS) has been estimated to range from 5.1% to 36.9%.
The aforementioned conditions encompass myopic retinal degeneration, tortuous vasculature, tigroid appearance of the fundus, preretinal hemorrhage, and localized hyperplasia of the retinal pigment epithelium.
The prevalence of proliferative diabetic retinopathy in individuals with Down syndrome (DS) appears to be lower, even in cases of prolonged diabetes duration. This observation may be linked to a diminished occurrence of angiogenesis in individuals with DS.
A study has found that children diagnosed with Down syndrome (DS) exhibit a higher central foveal thickness in comparison to a control group. On the other hand, a separate study revealed that there was no significant difference in foveal thickness between children diagnosed with Down syndrome (DS) and the control group. The peripapillary retinal nerve fiber layer in individuals with Down syndrome (DS) is notably thicker in comparison to individuals without the condition (controls). Differences in retinal abnormalities between individuals with Down syndrome (DS) and a control group were observed in various retinal layers, including the inner retina, outer plexiform layer, external limiting membrane, and outer segment of the interdigitation zone.
The hypothesis suggests that the atypical structure of the retina observed in Down syndrome (DS) is linked to neuro-sensory factors rather than vascular factors.
Research has demonstrated that the choroid in adults diagnosed with Down syndrome (DS) exhibits a greater thickness in comparison to individuals without DS, serving as a distinguishing characteristic.
In contrast, a separate study found no statistically significant disparities in subfoveal choroidal thickness between individuals diagnosed with Down syndrome (DS) and those without the syndrome. An increased level of choroidal tessellation has been observed in individuals with Down syndrome, even in the absence of myopia. The hypothesis posited that the presence of choroidal vasculature could potentially contribute to the observed manifestation.