Mutations in ASPH gene may cause the following signs and symptoms:
- Facial dysmorphism: flat cheeks, beaked nose, undersized jaw, downward slanting eyes
- Dislocation of the lens of the eye
- Adhesion of the iris and the cornea of the eye, often causing fluid build-up in the front part of the eye (angle-closure glaucoma)
- Adhesion of the iris and the lens of the eye
- Elevation of the conjunctiva of the eye (filtering bleb)
- Areas of atrophy in the iris
- Flattened front part of the eye
- Spherophakia (condition in which the lens of the eye is abnormally small and more spherical than usual)
- Decreased axial length (distance between outermost and innermost poles of the eye)