Usher Syndrome

What Is Usher Syndrome?

Usher syndrome is a hereditary syndrome characterized by hearing loss and retinitis pigmentosa (RP). Hearing loss may range from profound at birth (Usher syndrome Type 1), to moderate to severe (Usher syndrome Type 2), or may be absent at birth but decline over time (Usher syndrome Type 3). Retinitis pigmentosa, affecting the retinas, progressively impairs vision and can eventually lead to total blindness.

Types of Photoreceptor Cells and Their Functions

The retina contains two types of photoreceptor cells: rods and cones. Rods, which densely cover the peripheral part of the retina, are crucial for peripheral vision and low-light vision. Cones, concentrated in the central retina, are vital for color perception, sharp visual acuity, and central vision. RP initially affects the rods, gradually impacting the cones as it progresses.

Diagnostic Methods for Usher Syndrome

For Usher syndrome Types 1 and 2, hearing loss is typically detected during routine newborn screenings, followed by genetic testing to confirm the diagnosis. Type 3 is usually identified in late childhood or adolescence through audiology examinations. Vision loss symptoms such as difficulty navigating in low light lead to further evaluation by an ophthalmologist, including visual field testing and a dilated eye examination to diagnose RP.

Current Treatments and Management Strategies

Although there is no cure for Usher syndrome, treatments such as hearing aids, cochlear implants, and potentially high doses of Vitamin A can slow the progression of RP. It’s also crucial to protect the eyes from sun damage using quality sunglasses and hats.

The Impact of Usher Syndrome on Eyesight

Individuals with Usher syndrome often experience “night blindness” and difficulties in low-light environments due to RP. This condition necessitates orientation and mobility training to safely navigate using tools like canes and public transportation.

Living with Peripheral Vision Loss

As peripheral vision deteriorates, individuals develop “tunnel vision,” making it challenging to gather comprehensive visual information. Learning visual efficiency skills, such as scanning environments in an organized manner and using aids like a reverse telescope, can help manage these challenges.

Adapting to Advanced Stages of Vision Loss

With the progression of RP leading to the loss of sharp visual acuity and potentially total blindness, adaptations such as increased environmental contrast, use of assistive technologies like CCTV or screen-magnification software, and task lighting become essential. Preparing for complete sight loss includes learning braille and using screen-reading software.

Comprehensive Vision and Learning Assessments

To tailor educational and mobility strategies effectively, a functional vision assessment and a learning media assessment are conducted. These assessments help determine how the child uses vision in daily activities and which senses are primarily used to gather information, informing recommendations for accessing learning materials and navigating environments.

Resources for Families of Children with Usher Syndrome