Eye Issues in Angelman Syndrome

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
  • Astigmatism
  • Nearsightedness, or myopia
  • Irregular eye movements, or strabismus, causing poor visual tracking
  • Different degrees of eye discoloration, leading to pale eyes

Researchers suggest that eye symptoms may be used in the diagnosis of Angelman syndrome when occurring together with other characteristic symptoms.

Causes of eye issues

Angelman syndrome is primarily caused by a mutation in the UBE3A gene that carries the instructions necessary to make an enzyme called ubiquitin-protein ligase E3A.

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


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