Emanuel Syndrome

and the 11/22 Translocation

Emanuel Syndrome

Vision

Vision/Eyes

While most of our children do not have problems with vision, nearsightedness (myopia) can be seen in children with Emanuel Syndrome. So can strabismus, which is a problem where one or both of the child’s eyes will drift inward or outward. Other less common eye differences (including single case reports) have been seen:

  • Astigmatism (differences in the curvature of the cornea)
  • Glaucoma (abnormally high eye pressure which can affect the optic nerve) 
  • Duane syndrome (an eye disorder that limits horizontal eye movement)
  • Nystagmus (involuntary, rapid and repetitive movement of the eyes)
  • Ptosis (drooping upper eyelid)
  • Hyperopia (farsightedness)
  • Epicanthal folds ( skin fold of the upper eyelid covering the inner corner of the eye)
  • Microphthalmia (eyes that are smaller than usual)
  • Esotropia (eyes with a tendency to turn inward)
  • Iris coloboma (a hole or defect in the iris of the eye which may affect vision)
  • Optic nerve atrophy (may cause changes in vision)
  • Nuclear sclerosis (cloudiness in the eye)
  • Conjunctival lipodermoid (growths found under the conjunctiva)
  • Cataracts
  • Retinal angiopathy (a disease of the retina)

Regular ophthalmology assessments are recommended for people living with Emanuel Syndrome. 

“We had no clue that Joaquin had poor eyesight but are so glad his OT suggested he get an eye exam because we found out he is pretty moderately farsighted. We were amazed at how the optician was able to perform the exams while also making Joaquin comfortable. Now we just have to work at keeping them on!”

“Aedyn has been followed by an ophthalmologist since he was in the NICU. We have been able to do some non-surgical interventions that have worked well for Aedyn and have been able to avoid surgery. When he was younger we did patching for a period of each day to help address his eye-crossing. We paired this with various activities like his time in the stander, etc. When he needed a slight prescription and he got glasses, we also were able to add some prisms to that prescription that helps as well.  With each recent eye exam, we have been able to reduce the number of prisms in his prescription. With regular monitoring and some diligence with therapies and guidance with his activities at school, we have consistently seen improvement over the years and hardly ever see any crossing now. Aedyn is 10 years old and wears glasses for school, computer activities, therapies, etc.”

 References

*Carter, M. T., St Pierre, S. A., Zackai, E. H., Emanuel, B. S., & Boycott, K. M. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics. Part A, 149A(8), 1712–1721. https://doi.org/10.1002/ajmg.a.32957 

*Saffren, B. D., Capasso, J. E., Zanolli, M., & Levin, A. V. (2018). Ocular manifestations of Emanuel syndrome. American Journal of Medical Genetics. Part A, 176(9), 1964–1967. https://doi.org/10.1002/ajmg.a.40361