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 neuroophthalmological manifestations and discuss the current ophthalmological management in children with Down syndrome.

Down syndrome: a review of ocular manifestations

“…These findings suggest that retinal maldevelopment may contribute to poorer visual acuity and sensory nystagmus in children with Down syndrome. 10 …”

“… 1 – 6 Physicians are generally most familiar with the facial appearance and intellectual disability associated with Down syndrome. However, Down syndrome has also been associated with numerous ophthalmologic manifestations, 7 – 12 including patterns of strabismus, 13 , 14 amblyopia, 15 , 16 nystagmus, 17 , 18 nasolacrimal duct obstruction (NLDO), 19 , 20 keratoconus, 21 , 22 eyelid abnormalities, 8 , 23 , 24 cataract, 25 , 26 optic nerve abnormalities, 27 glaucoma, 28 – 30 and retinal abnormalities. 7 , 31 Whenever appropriate, epidemiology, presentation, mechanisms, and management of these manifestations will be discussed.…”

Vision Impairments in Young Adults with Down Syndrome

“…Most of the literature reveals more prevalence in visual and ocular anomalies such as refractive errors, binocular disorders, nystagmus and lack of accommodation in children with DS [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 ], but there is less information about young adults and seniors [ 20 , 21 , 22 , 23 , 24 ].…”

“…The first check-up would take place just after birth, and then in the first year every 6 months, to rule out congenital cataracts, glaucoma, nystagmus and retinal pathologies. Later in childhood, visual examinations should be at least once per year or every two years [ 18 ]. In childhood, more frequent ocular anomalies detected are strabismus and refractive errors, which is why it is so important to treat them as soon as possible.…”