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Is Keratoconus Genetic?
- Heritability
- ~60%
- Inheritance
- polygenic
- Key genes
- VSX1 TGFBI COL5A1
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Progressive corneal thinning with significant genetic component. Occurs in isolation and in association with connective tissue disorders.
How Genetic Is Keratoconus?
Keratoconus involves complex interactions between multiple genes and environmental factors. Heritability estimates range up to 60%, though no single gene determines outcome on its own.
Key genes associated with Keratoconus: VSX1 TGFBI COL5A1. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Keratoconus?
Family history can be informative for Keratoconus, but its predictive power is limited because many genes — each with small effects — combine with environmental influences. A family history of the condition may prompt earlier or more frequent screening.
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