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Updated: Nov 21, 2025

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Published on: August 4, 2021
Eye involvement in inherited metabolic disorders
1Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, NIHR GOSH Biomedical Research Centre (BRC), London WC1N 3JH, UK.
Ophthalmic symptoms can signal rare inherited metabolic disorders, necessitating early diagnosis and treatment. Eye care is crucial for managing these complex conditions.
Area of Science:
- Biochemistry
- Ophthalmology
- Genetics
Background:
- Inherited metabolic disorders disrupt biochemical pathways.
- Ocular manifestations are common in metabolic diseases.
- Eye conditions can be primary or secondary to metabolic disorders.
Purpose of the Study:
- To highlight the link between inherited metabolic disorders and eye conditions.
- To emphasize the importance of ophthalmological assessment in metabolic disease.
- To promote early diagnosis and management of metabolic disorders through eye screening.
Main Methods:
- Review of ophthalmic manifestations in inherited metabolic disorders.
- Analysis of diagnostic and therapeutic implications.
- Discussion of the role of ophthalmology in multidisciplinary care.
Main Results:
- Ophthalmic involvement is diverse, affecting cornea, lens, retina, optic pathways, and extraocular muscles.
- Early recognition of eye signs can lead to timely diagnosis of metabolic disorders.
- Ophthalmological interventions are integral to patient management.
Conclusions:
- Awareness of inherited metabolic disorders is vital for ophthalmologists and geneticists.
- Ophthalmological evaluation is key for early detection and management of metabolic diseases.
- Integrated care involving ophthalmology improves outcomes for patients with metabolic disorders.
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