A Wide Range of Eye Diseases

Adults with Down syndrome present with a wide spectrum of eye disorders, which require individual diagnostic evaluation and treatment (for example, nystagmus, strabismus, accommodative insufficiency, refraction errors, keratoconus, early cataracts, glaucoma, and retinal vascular anomalies). The term age dependent or senile cataract does not do justice to the treatment situation in trisomy 21. The etiopathogenesis crucially involves other, additional pathogenetic mechanisms. Scientific proof exists for a link between genotype and phenotype of Alzheimer’s dementia triggered/related Aß-amyloid pathology and age dependent phenotype expression in the lens and brain. Moncaster et al. (1) in 2022 postulated the lens Aß even as a useful molecular biomarker for the early detection and monitoring of Alzheimer’s disease. Further to refraction anomalies, keratopathy and the subsequent manifestation of a conical bulge anomaly of keratoconus constitutes an important ophthalmologic pathology in trisomy 21. Possible causes of abnormal collagen structures that are under debate include dysregulation of proteolytic enzymes, such as matrix-metalloproteinases, degradation of collagen, proteoglycans, and other components of the extracellular matrix of the corneal stroma. Late-stage surgical treatment by means of perforating keratoplasty can be associated with a difficult prognosis. Especially in chronic blepharoconjunctivitis and increased rubbing of eyes. For patients with Down syndrome and keratoconus, treatment by means of collagen cross linking or deep anterior keratoplasty, should be evaluated, in order to delay the corneal changes (2). Control examinations of the yes are required (3) because individual difficulties of affected patients need to be considered in the articulation of self-observation of functional impairments. Early treatment measures in blepharoconjunctivitis, keratoconus, or cataract can minimize negative sequelae of reduced eyesight in everyday life.