Conditions / Eye
visual impairment and progressive phthisis bulbi
info · Eye
An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.
Signs and symptoms
- Hypermetropia
- Ptosis
- Phthisis bulbi
- Reduced visual acuity
- Flat cornea