Atlas medical/product review pending.
- Several of these conditions (Fabry, Gaucher, MPS-I) have specific enzyme-replacement therapies that work best when started before irreversible organ damage.
- Eye findings are often an early visible sign of an underlying systemic disease and prompt a broader work-up.
- Atlas medical review is pending -- this is not a comprehensive hereditary-ophthalmology panel; the five genes cover systemic storage disease with ocular manifestations, not retinal dystrophies or optic neuropathies.
- GenDG §7