Our Summary

This research paper focuses on Angelman Syndrome (AS), a rare genetic disorder that causes severe mental delays and eye abnormalities. The study looks at the eye-related issues in patients with AS, specifically strabismus (a condition where the eyes don’t look in the same direction at the same time), and the results of surgery to correct this.

Three children with strabismus were identified as having AS due to their specific symptoms. They all underwent a type of DNA test and had eye surgery under anesthesia. The DNA test confirmed they all had a deletion in a specific part of their genetic code, inherited from their mothers.

All these children struggled with vision tests and had astigmatism, a common eye condition that causes blurred vision. Their strabismus was specifically identified as horizontal exotropia, meaning their eyes drift outwards, with no signs of vertical strabismus (eyes drifting up or down). One child also had high myopia (near-sightedness). All had lighter hair and iris color, but normal retina color.

After surgery to correct the strabismus, all showed significant improvement and the results remained stable after the operation. The study concludes that treating AS patients is challenging due to their severe intellectual disabilities, hyperactivity, and speech impairment. Therefore, repeated eye exams and intellectual rehabilitation are crucial.

FAQs

  1. What is Angelman syndrome and how does it affect the eyes?
  2. What kind of surgery was performed on the AS patients and what was the outcome?
  3. What are the common characteristics of children with Angelman Syndrome and what challenges do they present to treatment?

Doctor’s Tip

A doctor might tell a patient undergoing strabismus surgery for Angelman syndrome that the surgery can significantly improve their exotropia and stabilize their vision postoperatively. It is important for patients with AS to undergo regular examinations and intelligence rehabilitation to ensure optimal outcomes.

Suitable For

Patients with Angelman syndrome who have strabismus, specifically horizontal exotropia, are typically recommended for strabismus surgery. These patients may also have other ophthalmological features such as astigmatism and high myopia. It is important for these patients to undergo thorough examination and intelligence rehabilitation due to their severe intellectual disability and other associated characteristics of Angelman syndrome. The surgery, such as lateral rectus recession, can significantly improve the exotropia and provide stable postoperative results.

Timeline

  • Before strabismus surgery, a patient with Angelman syndrome (AS) may present with typical clinical features such as severe intellectual disability, hyperactivity, speech impairment, and ocular abnormalities.
  • The patient undergoes multiplex ligation-dependent probe amplification (MLPA) analysis to confirm the diagnosis of AS.
  • The patient is found to have a maternal heritage deletion of chromosome 15q11.2-q13.
  • The patient is diagnosed with horizontal exotropia, astigmatism, and possibly other ocular abnormalities such as high myopia.
  • The patient undergoes lateral rectus recession surgery with the assistance of intravenous combined inhalation anesthesia.
  • After surgery, the exotropia is significantly relieved and the surgical effects are stable postoperatively.
  • The patient may require repeated examinations and intelligence rehabilitation to address the challenges associated with AS.
  • Overall, the surgery may improve the patient’s ocular alignment and quality of life.

What to Ask Your Doctor

  1. What are the risks and potential complications of strabismus surgery in patients with Angelman syndrome?

  2. How will the surgery impact the patient’s vision and overall quality of life?

  3. Are there any alternative treatment options for strabismus in patients with Angelman syndrome?

  4. How will the patient’s unique characteristics and challenges associated with Angelman syndrome be taken into consideration during the surgery and recovery process?

  5. What is the expected outcome of the surgery in terms of correcting the strabismus and improving the patient’s visual function?

  6. Will the patient require any special accommodations or follow-up care post-surgery due to their Angelman syndrome diagnosis?

  7. How will anesthesia be administered and monitored during the surgery, considering the patient’s specific medical needs and potential complications related to Angelman syndrome?

  8. Are there any specific pre-operative or post-operative instructions that are important for patients with Angelman syndrome undergoing strabismus surgery?

  9. How will the surgical team coordinate care with other specialists involved in the patient’s treatment for Angelman syndrome?

  10. What is the long-term prognosis for the patient’s strabismus following surgery, and how often will follow-up appointments be necessary to monitor their progress?

Reference

Authors: Ye H, Lan X, Liu Q, Zhang Y, Wang S, Zheng C, Di Y, Qiao T. Journal: Medicine (Baltimore). 2019 Dec;98(51):e18077. doi: 10.1097/MD.0000000000018077. PMID: 31860958