ECC | Optometrist | Eyewear | Colorado
10791 Kitty Dr Conifer CO 80433 +1 303-838-9165
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Eye Consultants of Colorado

(303) 838-9165

Rare Disease Day

Procedures

Rare Disease Day® is February 28th, 2017

“With research, possibilities are endless.”

Rare Disease Day® is held on the last day of February every year. A rare disease constitutes an illness or condition that affects less than 200,000 people in the United States. The main objective of this day is to raise awareness with the general public about rare diseases and their impact on patient’s lives. Imagine a life where no doctor can pinpoint what is happening to your body and can give you no real answers. You learn that whatever is happening to you has no treatment or cure because there is very little information about it. When we spread awareness of these rare diseases and raise money for research, we are positively impacting thousands of people’s lives suffering from the multitude of rare diseases.

In honor of Rare Disease Day®, we have provided you with some education on and awareness of a very rare eye-related disease called Usher’s Syndrome.

Usher’s Syndrome

What is it?
Usher’s syndrome is a genetic disorder that combines Retinitis Pigmentosa, a vision disorder, with an associated hearing dysfunction. Retinitis Pigmentosa is characterized by a progressive loss in visual acuity, constriction of peripheral vision, nyctalopia (night blindness), and photophobia (light sensitivity). It is the most common condition that affects both hearing and vision. In the U.S., approximately 4 out of every 100,000 babies are born with Usher’s Syndrome.

There are three types of Usher’s Syndrome. Children with Type I Usher’s Syndrome experience total deafness at the time of birth and have severe balance problems. Vision problems usually start progressing during the pre-teen years, almost always by the age of 10. These vision problems usually start with difficulty seeing at night but quickly progress until the person is completely blind. Children with moderate hearing loss and normal balance at the time of birth characterize Type II Usher’s Syndrome. Vision problems usually appear in the teenage years and progress slower than in Type I Usher’s Syndrome. Children with Type III Usher’s Syndrome have normal hearing and normal balance at the time of birth, though balance issues may start to progress later on. Hearing and vision problems worsen as the child ages into their teenage years, with vision problems beginning with difficulty seeing at night and progressing until the person is completely blind.

General Symptoms & Clinical Signs

  • Poor Night Vision
  • Difficulties Going from Dark to Light Settings, and Vice Versa
  • “Tunnel vision”
  • Reduced Color Vision
  • Decreased Vision
  • Constricted Peripheral Vision
  • Changes in the Retinal Blood Vessels, Optic Nerve and Macula as well as Various Vision Problems

Evaluation and Diagnosis
If we receive any sort of indication that a patient may be experiencing symptoms of Usher’s Syndrome, we would perform the following tests to either rule it out or confirm and diagnose it. We would begin as we would with any other visual complaint and perform a complete eye examination. We would test the patient’s color vision and visual field to measure peripheral vision and perform a complete retinal examination to assess the health and function of the retina. Various electrodiagnostic tests may also be necessary for the diagnosis of this rare eye condition. These electrodiagnostic tests assess things like the eye’s electrical response to light and involuntary eye movement, which would indicate a balance problem. We would most likely refer the patient to specialists to test hearing and balance issues in more detail. Early diagnosis of Usher’s Syndrome is very important for the patient (child) as well as for the parents.

Management and Treatment
Currently, there is not a cure for this rare eye condition. The best ways of managing this condition typically include hearing aides, assistive listening devices, cochlear implants or other communication methods, orientation and mobility training, low vision services, and auditory training. Though not yet proven, some research suggests a high daily intake of vitamin A may slow the progression of Retinitis Pigmentosa. People who consider using vitamin A for Retinitis Pigmentosa should discuss this decision with their health or eye care provider before beginning to do so. Patients may also be prescribed specialty glasses that provide low vision correction to help with activities of daily living.

(720)463-2613