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.

Other information

Eye contact is essential for social development. Visual rehabilitation can help with social interaction and alleviate behavioral issues in patients with Angelman syndrome. Therefore, it is vital to include vision exercises in the treatment plan for Angelman syndrome patients.

 

Last updated: Sept. 8, 2019

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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. 

Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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