Angelman syndrome is a rare neurological disorder characterized by symptoms such as scoliosis (abnormal curvature of the spine), walking difficulty, balance issues, behavioral problems, and seizures. In some cases, Angelman syndrome can also affect the eye muscles and impede the nerve impulses from the brain to the eyes, causing vision problems.
Eye symptoms in Angelman syndrome
According to a study, patients with Angelman syndrome can also have several eye symptoms. These include:
- Farsightedness, or hyperopia
- Nearsightedness, or myopia
- Irregular eye movements, or strabismus, causing poor visual tracking
- Different degrees of eye discoloration, leading to pale eyes
Causes of eye issues
Other genes have also been implicated in Angelman syndrome and associated with eye problems reported in some patients. For example, mutations in the OCA2 gene, which encodes for a protein called the P-protein, have been shown to occur in some patients with Angelman syndrome. The exact function of the P protein is unknown, but it is likely involved in the production of melanin, the pigment responsible for the color of the eyes, skin, and hair.
A pre-clinical study also suggests that mutations in the GABRB3 gene may play a role in eye discoloration observed in Angelman syndrome and Prader-Willi syndrome, another genetic condition characterized by developmental delays. The GABRB3 gene carries the instructions necessary to make gamma-aminobutyric acid type A receptor beta3 subunit, one of the components of a major neurotransmitter, or cell-signaling molecule, in the brain.
Last updated: Sept. 8, 2019
Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.