Usher Syndrome Type I

Usher Syndrome Type I is the most severe form of Usher syndrome, a group of conditions characterized by the combination of hearing loss and progressive vision loss (retinitis pigmentosa). Type I causes profound congenital deafness, vestibular dysfunction leading to delayed motor development, and early-onset retinitis pigmentosa. Usher syndrome is the most common cause of combined deaf-blindness.

Children with Usher Type I are born profoundly deaf in both ears. They also have dysfunctional vestibular systems, causing balance problems that delay sitting and walking milestones. Most children don't walk until 18 months or later. Vision problems typically begin with night blindness in early childhood, followed by progressive loss of peripheral vision (tunnel vision). Central vision is eventually affected, though the rate of progression varies.

Because hearing loss is present from birth, early intervention with cochlear implants (which work well in Usher Type I) and visual support services is crucial. Sign language skills become increasingly important as vision declines. The progressive nature of the vision loss makes early diagnosis essential for planning educational approaches and maximizing functional independence.

Usher Type I can be caused by mutations in several genes, with PCDH15 being one of the most common causes (Type 1F). The condition is inherited in an autosomal recessive pattern. Overall, Usher syndrome affects approximately 3-6% of people with congenital deafness. Early genetic diagnosis allows for appropriate intervention, family planning counseling, and inclusion in emerging clinical trials for gene therapy or other treatments.

NutraHacker examines the following gene related to Usher Syndrome Type I:

• PCDH15

For more information about your own genetic profile as related to Usher Syndrome Type I, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.