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What is Duane Syndrome

Duane Syndrome

What is Duane Syndrome?

Duane syndrome (DS) is an eye movement disorder that is present at birth and characterized by a limited ability to move an eye inward towards the nose, outward towards the ear or in both directions. The frequency of DS in the general population of individuals with eye movement disorders is approximately 1-5%. About 40% of patients develop esotropia, a head turn toward the eye to maintain single binocular vision, or they maintain a straight head but accept esotropia, and suppression, if available.

A child with Duane Syndrome

My son was born with DS and diagnosed around 18 months of age. I had noticed a slight “lazy” eye and discussed it with our pediatrician. The recommendation was to watch it until he was a year old. As the year progressed the eye became worse and we were referred to a pediatric ophthalmologist. During the initial visit eye exercises, dilation and a vision screening were completed. The signs and symptoms the ophthalmologist discussed were: the upshoot or downshoot of the eye, a head tilt or turn and eye misalignment.

As early as three months old, my son had a head tilt that seemed flirtatious in nature and then linked to his reoccurring ear infections. As I understand the diagnosis, the head tilt is a natural solution to correct the double vision an individual sees, or to align the eyes. Photographs were the best tool in reviewing his symptoms; there were not many where he was looking straight at the camera, more common are pictures where his head is tilted to the right. The head tilt is so that he can see what is in front of him. More noticeable is his head turn where it appears he is trying to look behind him but actually looking to the right.

Developmentally he is right on target and has not appeared to be hindered in any way. My son is all boy and very adventurous. Climbing and running seems to come as natural as sitting up. He frequently trips or falls in very familiar spaces, sometimes over his own feet. My guess is that this is both developmentally normal and attributed to Duane Syndrome. There are times when he has trouble with depth perception, for example when food is located in a certain location to the right he appears not to see it, in reality he seeing double. Instinctively he eliminates the area by not acknowledging that there is food available.

He is now almost 20 months and will be having surgery to help alleviate the head tilt/turn. The surgery will take the existing muscle and split it into two muscles. This will not “cure” DS but reduce the side affects and improve alignment.

The most frustrating part of DS is trying to make sense of all the information. As a person who has never experienced DS, or double vision, it is hard to imagine what your child is experiencing. The most helpful resources have been internet groups where other families share their experiences and resources.

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Ocular Albinism

ocular albinism

The lack of pigment that defines albinism affects not only outward appearance, but ocular development, as well. Oculocutaneous albinism affects pigment in the skin, hair and eyes. Ocular albinism exclusively affects the development of the eye. In these patients, skin and hair pigmentation appears normal. People with both forms of albinism experience congenital visual problems associated with lack of pigment in the eye.

Albinism is a genetic condition. Because of this, and because of the complexity of the eye, treatment options for vision problems associated with albinism are limited. However, there are existing treatments that can improve patients’ vision, and recent research in gene therapy may give new hope to sufferers.

Vision Problems Associated with Albinism

According to Richard and Laura Windsor of the Low Vision Centers of Indiana (2004), the defining characteristic of ocular albinism is poor development in the center of the retina. This area, called the foveal pit, controls fine vision in a normal eye. Without the ability to focus properly, people with albinism may experience:
  • low visual acuity
  • nystagmus (eye shaking)
  • oscillopsia (disturbed vision in which fixed objects appear to move)
  • strabismus (crossed eyes or eyes that otherwise do not move together)
  • photophobia (sensitivity to light)
  • unusual head or eye movements compensating for variations in vision

There is no surgery or treatment that can correct the developmental defect in the retina of the eye. However, there are some treatments for the specific symptoms associated with albinism. Additionally, vision aids and other treatments that work for the general population can improve the visual acuity of albinism sufferers, as well.

Treatments for Ocular Albinism

While ocular albinism can result in varying levels of visual disability, sufferers can generally adapt well. The disorder is not degenerative, so vision problems that develop later can usually be attributed to the types of vision disorders, such as myopia and hyperopia, that are common in the general population. Treatments for the general population can be used for ocular albinism sufferers, as well. These include:
  • eyeglasses and bifocals
  • prescription sunglasses
  • contact lenses
  • magnifiers
  • surgical laser reshaping (LASIK)
  • lens implant
  • lens replacement

None of these, however, correct any of the congenital defects of ocular albinism. Surgery on the muscles that control eye movements can be used to correct strabismus and improve binocular vision. A similar surgery may be used to minimize nystagmus.

Hand-held telescopes, and bioptic telescope eyeglasses can help with the distance vision issues common in ocular albinism. While some of these devices can be bulky and make the wearer self-conscious, the BITA system is comparatively unobtrusive telescopic eyewear. Another company makes auto-focusing telescoping eyewear.

Research into Albinism

Albinism is a rare disorder that, according to the National Association of Albinism and Hypopigmentation (NOAH) affects approximately one in 17,000 people. Because ocular albinism is rare, non-degenerative, and its sufferers usually adapt well, there is very little research being done into therapies specifically for this condition. However, researchers are working on mapping the specific faulty genes that cause albinism.

Additionally, gene therapy has already been used to improve the vision of patients with congenital blindness. In 2008, researchers at the Children’s Hospital in Philadelphia successfully used gene therapy to improve the vision of three blind patients. While those patients suffered from a different vision disorder, the successful use of gene therapy as a treatment for that retinal disorder indicates that it may one day be used for ocular albinism sufferers, as well.

While there is no treatment specifically for ocular albinism, vision aids, surgery and the adaptability of those affected can minimize the impact of the vision disorder on patients with albinism. The successful use of gene therapy in treating a similar ocular disorder gives hope that a cure is on the horizon for the visual problems associated with albinism.

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