Abstract | November 17, 2023

Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old Infant: A Case Report

Meghan Filson, Medical Student, 4th Year, VCOM, Auburn, AL

Dakota David, Medical Student, 4th Year, ACOM, Dothan, AL; Claire Yother, Medical Doctor, Pediatrics, Gadsden Pediatric Clinic, Gadsden, AL

Learning Objectives

  1. To create a general knowledge of the diagnosis of Usher Syndrome that will allow pediatric and general practitioners to keep Usher Syndrome on their differential diagnosis when a young patient presents with sensorineural hearing loss
  2. Identify the resources and specialty visits needed throughout the lifetime of a patient diagnosed with Usher Syndrome
  3. Identify barriers and concerns of a patient diagnosed with Usher Syndrome patients

Usher Syndrome is a genetically inherited condition characterized by congenital sensorineural hearing loss as well as progressive vision loss secondary to retinitis pigmentosa. Patients may also display vestibular areflexia and balance issues secondary to inner ear damage. Usher Syndrome is the most commonly diagnosed syndrome within the blind-deaf community, and it accounts for a significant portion of hearing and visual deficit cases among patients younger than 65 years of age. Due to the reported prevalence of Usher Syndrome in the United States, it appears there is chronic underdiagnosis in clinical settings throughout the country. A possible explanation for this is the visual deficits of Usher syndrome do not appear until later in life and thus inappropriately lower the index of suspicion for this diagnosis in young children with hearing deficits. This case study highlights a healthy newborn who failed the universal newborn hearing screening (UNHS) bilaterally as well as a follow-up hearing screening in a pediatrician’s office. Auditory brainstem response (ABR) later confirmed bilateral severe-to-profound sensorineural hearing loss. Upon genetic testing, an abnormality in the Unconventional Myosin VII-A (MYO7) gene was discovered and consistent with Usher syndrome Type 1B (USH1B). For patients presenting with congenital hearing loss, Usher Syndrome should be considered on the differential. Due to the progressive nature of this condition and the physical and developmental deficits that will transpire without treatment, a genetic panel for hearing loss should be prioritized. The diagnosis is important to be made because of the delay in speech and language development as well as the potential walking delays and ataxic difficulties that may transpire without treatment. Physicians should have a suspicion of Usher Syndrome if an infant presents with sensorineural hearing loss as well as failure to walk and no other diagnoses have been made. Cochlear implants are definitive treatment for hearing loss. Neurology should also be consulted for vestibular dysfunction as well as an ophthalmologist to continue monitoring for not only retinal degeneration, but also cataracts and/or cystoid macular edema. Physical therapy and speech therapy should be initiated at a young age to mitigate developmental deficits.

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