A Wide Range of Eye Diseases

Letters to the Editor Diseases Affecting Middle-Aged and Elderly Individuals With Trisomy 21 by Prof. Dr. med. Johannes Levin, Prof. Dr. med. Alkomiet Hasan, Dr. med. Irene Alba Alejandre, Dr. med. Irene Lorenzi, Prof. Dr. med. Volker Mall, and Prof. Dr. med. Tilman Rohrer in issue 1–2/2023

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 Aβ-amyloid pathology and age dependent phenotype expression in the lens and brain. Moncaster et al. (1) in 2022 postulated the lens Aβ 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.

DOI: 10.3238/arztebl.m2023.0075

Prof. Dr. med. Frank Tost

Klinik und Poliklinik für Augenheilkunde

Universitätsmedizin Greifswald

Conflict of interest statement

The author declares that no conflict of interest exists.

References

1. Moncaster JA, Moir RD, Burton MA, et al.: Alzheimer’s disease amyloid-β-pathology in the lens of the eye. Exp Eye Res 2022; 221: 108974

2. Stephenson KAJ, Power B, Malata D, et al.: Management of keratoconus in down syndrome and other intellectual disability. Cornea 2022; 41: 456–61

3. Ahlström G, Axmon A, Sandberg M , Flygare Wallén E: Health care utilisation among older people with Down syndrome compared to specific medical guidelines for health surveillance: a Swedish national register study. BMC Health Serv Res 2020; 20: 949

4. Levin J, Hasan A, Alba Alejandre I, Lorenzi I, Mall V, Rohrer TR: Diseases affecting middle-aged and elderly individuals with trisomy 21. Dtsch Arztebl Int 2023; 120: 14–24