Saturday, November 7, 2026

4:45 PM - 5:00 PM

Ballroom 1 and 2

---

Overview

Philippa Miller

---

Details

Due to advances in genetic testing, there has been an increase in the early diagnosis of Usher syndrome following the diagnosis of sensorineural hearing loss (SNHL) (Shearer, 2024). Therefore, the syndromic diagnosis is obtained well before these children would otherwise have presented to ophthalmology clinics and low vision agencies with signs and symptoms of retinitis pigmentosa (RP). Effected families are presented with a complex diagnosis to manage and navigate. In addition to profound SNHL often requiring cochlear implant surgery and extensive habitation, children with Usher syndrome Type 1 experience vestibular areflexia or the absence of a functioning vestibular system (Castiglione & Möller, 2022). This impacts balance, orientation, gross motor development and cognitive ability. Furthermore, vestibular areflexia can significantly impact gaze stability, resulting in reduced functional vision even before symptoms of RP begin to emerge. Comprehensive support that extends beyond clinical diagnosis and management is required (Maxwell et al., 2025). The complexity of Usher syndrome, prospective deafblindness and the psychosocial impacts of this diagnosis on the child and their family calls for early referral and a collaborative team approach, involving both the medical team and therapy team around the child. This guides decision making and optimises outcomes for the child and their family. This presentation will highlight the complexity of Usher syndrome, benefits of a collaborative team approach with strong communication avenues and red flags that indicate when referral is advised. The importance of informed long-term planning that considers access through multimodal approaches will also be explored.

---

Speaker