Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives

Abstract

Down syndrome, caused by an extra copy of all or part of chromosome 21, is the most prevalent intellectual disability of genetic origin. Among numerous comorbidities which are part of the phenotype of individuals with Down syndrome, ocular problems appear to be highly prevalent. Neuro-ophthalmological manifestations, such as ocular alignment and motility disturbances, amblyopia, hypoaccommodation or optic nerve abnormalities, and other organic ocular anomalies frequently reported in Down syndrome, may lead to an overall decrease in visual acuity. Although numerous studies have reported ocular anomalies related to Down syndrome, it remains challenging to determine the impact of each anomaly upon the decreased visual acuity, as most such individuals have more than one ocular problem. Even in children with Down syndrome and no apparent ocular defect, visual acuity has been found to be reduced compared with typically developing children. Pediatric ophthalmological examination is a critical component of a multidisciplinary approach to prevent and treat ocular complications and improve the visual outcome in children with Down syndrome. This narrative review aims to provide a better understanding of the neuro-ophthalmological manifestations and discuss the current ophthalmological management in children with Down syndrome.

Keywords: Down syndrome; hypoaccommodation; nystagmus; ocular anomalies; optic nerve; pediatric ophthalmology; strabismus; trisomy 21.

Figure 1

Ocular anomalies in Down syndrome. (A) Eleven year old boy with Down syndrome, myopia and hypoaccommodation wearing bifocal spectacles. (B) Evaluation of accommodation by dynamic retinoscopy. (C) Brushfield spots: white iris nodules arranged circumferentially; an area of thinner iris stroma is noted peripheral to the nodules. (D) Blue dots cataract in a 16 year old boy with Down syndrome.

Figure 2

Optic nerve anomalies in Down syndrome. (A) Small, crowded papilla with an increased number of vessels crossing the optic disc margin, in an 11 year old boy with Down syndrome. (B) Posterior segment photograph of a 13 year old boy with Down syndrome, high myopia, tilted disc, tessellated fundus and posterior pole staphyloma. (C) Fundus imaging showing an optic disc drusen in a 16 year girl with Down syndrome. (D) The aspect of the drusen in the same eye as seen with B-scan ultrasonography.