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Review
. 2020 Dec 29:12:2515841420979109.
doi: 10.1177/2515841420979109. eCollection 2020 Jan-Dec.

Eye involvement in inherited metabolic disorders

James E Davison  1
Affiliations
Review

Eye involvement in inherited metabolic disorders

James E Davison. Ther Adv Ophthalmol. .

Abstract

Inherited metabolic disorders are a large group of rare disorders affecting normal biochemical pathways. Many metabolic disorders can present with symptoms affecting the eye, and eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the distal optic pathway, and extraocular muscles. Awareness of inherited metabolic disorders is important to facilitate early diagnosis and in some cases instigate early treatment if a patient presents with eye involvement suggestive of a metabolic disorder. Ophthalmological interventions are also an important component of the multisystem holistic approach to treating patients with metabolic disorders.

Keywords: cataracts; enzyme replacement therapy; galactosaemia; genetics; inherited metabolic disorder.

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Conflict of interest statement

Conflict of interest statement: The author declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Atypical presentation of classical galactosaemia [from JED clinical archive].
See this image and copyright information in PMC

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