Conditions / Eye
optic disc anomalies with retinal and/or macular dystrophy
info · Eye
A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23.
Signs and symptoms
- Microphthalmia
- Retinal detachment
- Cataract
- Nystagmus
- Miosis
- Buphthalmos
- Corneal scarring
- Macular atrophy
- Glaucoma
- Horizontal nystagmus