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KMID : 0918520220220020037
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Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No. 2 p.37 ~ p.45
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Inherited Metabolic Disorders Involving the Eye
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Jung Jae-Ho
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Abstract
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Inherited metabolic disorders (IMD) are a large group of rare disorders affecting normal biochemical pathways. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the optic nerve, and extraocular muscles. Eye disorders can be initial symptoms of some IMD and can be clue for diagnosis of IMD. However, eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. Awareness of IMDs 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.
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KEYWORD
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Inherited Metabolic Disorders, Cornea opacity, Cataract, Retina dystrophy, Optic atrophy, Strabismus
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