Davison James E
Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, NIHR GOSH Biomedical Research Centre (BRC), London WC1N 3JH, UK.
Ther Adv Ophthalmol. 2020 Dec 29;12:2515841420979109. doi: 10.1177/2515841420979109. eCollection 2020 Jan-Dec.
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.
遗传性代谢紊乱是一大类影响正常生化途径的罕见疾病。许多代谢紊乱可表现出影响眼睛的症状，并且眼部疾病可在已确诊的代谢紊乱的自然病程中较晚出现。眼部受累情况非常多样，可影响眼睛的任何部位，包括角膜异常、晶状体脱位和白内障、视网膜及远端视路，以及眼外肌。认识遗传性代谢紊乱对于促进早期诊断很重要，并且在某些情况下，如果患者出现提示代谢紊乱的眼部受累症状，可促使早期治疗。眼科干预也是对代谢紊乱患者进行多系统整体治疗方法的重要组成部分。
