Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other

Dig Liver Dis. 2020 Jan;52(1):1-8. doi: 10.1016/j.dld.2019.11.009. Epub 2019 Dec 13.


Several rare pediatric liver disorders are accompanied by ophthalmic signs whose awareness and early identification may be of value in confirming/accelerating their diagnosis. Many of these signs are asymptomatic and can only be detected with an ophthalmological examination. Corneal signs are described in patients with Wilson's disease, Alagille's syndrome and some liver storage diseases. Cataract plays an important role to diagnose galactosemia. Retinal involvement is seen in some peroxisomal disorders (e.g. Zellweger's syndrome), in mucopolysaccharidoses (pigmentary retinopathy), and in Niemann-Pick disease (macular cherry red spot). In mucopolysaccharidoses optic nerve can be involved as optic atrophy secondary to pigmentary retinopathy or to chronic papilledema. Children with neonatal cholestasis due to hypopituitarism may present septo-optic dysplasia. Several infectious agents have an ophthalmological/hepatic involvement in the fetal life and/or thereafter. Some mitochondrial liver diseases, such as Pearson's syndrome, present pigmentary retinopathy and a chronic progressive external ophthalmoplegia. Finally, some drugs while protecting the liver may damage the ocular system as seen with long-term glucocorticoids and Nitisinone administration. This review provides a synopsis of those conditions that hepatologists and ophthalmologists should share among themselves to better take care of patients. Synoptic tables are presented to facilitate the mutual understanding of the issues.

Keywords: Eye; Hepatologist; Liver; Liver diseases; Ocular manifestations; Ophthalmology; Pediatrics.

Publication types

  • Review

MeSH terms

  • Child
  • Cyclohexanones / adverse effects
  • Eye Diseases / chemically induced
  • Eye Diseases / diagnosis*
  • Gastroenterologists
  • Glucocorticoids / adverse effects
  • Humans
  • Liver Diseases / diagnosis*
  • Liver Diseases / drug therapy
  • Nitrobenzoates / adverse effects
  • Ophthalmologists
  • Pediatrics


  • Cyclohexanones
  • Glucocorticoids
  • Nitrobenzoates
  • nitisinone