Ocular manifestations of systemic diseases in children

Knowledge of ocular diseases and understanding of the complex interplay between eye and systemic health have increased over the years. This knowledge is particularly important when caring for our youngest and most vulnerable paediatric patients when ophthalmic manifestations may provide an insight to underlying systemic diseases and can act as the first indicator of an undiagnosed systemic condition. Further, the visual system can be vulnerable to manifestations of known systemic disease, with vigilant ophthalmic examination generally aiding early identification of ocular complications for collaborative multidisciplinary care to prevent avoidable vision loss. The potential ocular signs and complications of the following developmental, genetic or acquired childhood systemic disorders are presented: premature birth, trisomy 21, albinism, Marfan’s syndrome, Stickler’s syndrome, septo-optic dysplasia, aniridia, neurofibromatosis 1, Sturge-Weber syndrome, papilloedema, juvenile idiopathic arthritis and vitamin A deficiency. Rather than providing an exhaustive list of diseases, this review offers an overview of the more commonly encountered congenital or acquired childhood systemic conditions that have associated childhood ophthalmic disorders and presents referral and ongoing surveillance recommendations.