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[Metabolic disorders and corneal changes (author's transl)]

J François

    Klinische Monatsblatter Fur Augenheilkunde
    |June 1, 1981
    PubMed
    Summary

    Inborn errors of metabolism can cause corneal changes, affecting either the corneal epithelium or stroma. These metabolic disorders include defects in carbohydrate, lipid, and amino acid metabolism, leading to various corneal dystrophies.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics
    • Metabolic Disorders

    Context:

    • Corneal changes are significant indicators of underlying systemic diseases.
    • Inborn errors of metabolism represent a diverse group of genetic disorders affecting biochemical pathways.
    • Understanding the link between metabolic defects and ocular manifestations is crucial for diagnosis.

    Purpose:

    • To catalog and describe inborn errors of metabolism that manifest with corneal changes.
    • To differentiate corneal involvement based on the affected corneal layer (epithelium vs. stroma).
    • To provide a comprehensive overview of metabolic pathways implicated in corneal pathology.

    Summary:

    • Inborn errors of metabolism can affect the corneal epithelium (e.g., familial dysautonomia, tyrosinaemia type II, Fabry's disease).
    • Metabolic defects impacting the corneal stroma include amyloidosis, carbohydrate metabolism disorders (mucopolysaccharidoses, glycogen storage disease), and lipid metabolism disorders (Schnyder's dystrophy, hyperlipoproteinaemia, etc.).
    • Combined defects (mucolipidoses) and other inherited disorders (aminoacidopathies, hemochromatosis) also present with corneal abnormalities.

    Impact:

    • Facilitates the diagnosis of rare genetic metabolic disorders through ocular examination.
    • Highlights the importance of ophthalmological screening in patients with suspected metabolic diseases.
    • Contributes to the understanding of genotype-phenotype correlations in inherited metabolic and corneal diseases.

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