Abstract
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
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Article info
Publication history
Published online: December 13, 2019
Accepted:
November 17,
2019
Received:
August 9,
2019
Identification
Copyright
© 2019 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
