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A 10-year-old with congenital profound hearing loss begins to have difficulty seeing at night. Ophthalmologic exam reveals retinitis pigmentosa. He also has vestibular dysfunction.
AR; multiple genes
- Type 1: MYO7A, USH1C, CDH23, PCDH15, USH1G - most severe
- Type 2: USH2A (most common), ADGRV1, WHRN - moderate
- Type 3: CLRN1 - progressive
Types:
| Type | Hearing Loss | Vestibular | RP Onset |
|---|---|---|---|
| 1 | Profound congenital | Absent | First decade |
| 2 | Moderate-severe congenital | Normal | Second decade |
| 3 | Progressive | Variable | Variable |
- Sensorineural hearing loss
- Retinitis pigmentosa (progressive blindness)
- Vestibular dysfunction (type 1, variable in type 3)
- Leading cause of deaf-blindness
- Audiometry/ABR confirms sensorineural hearing loss; newborn hearing screen typically abnormal in types 1 and 2
- Ophthalmologic evaluation with electroretinogram (ERG) and dilated fundus exam to detect retinitis pigmentosa, often before symptoms
- Vestibular testing: areflexia supports type 1; vestibular function is typically normal in type 2
- Molecular confirmation: multigene panel (MYO7A, USH2A, CDH23, PCDH15, CLRN1, and others), with type correlating to gene and phenotype
- Hearing rehabilitation: hearing aids; early cochlear implantation is favored in profound type 1 loss
- Vision surveillance: serial ophthalmologic exams; low-vision services, UV protection, and vitamin A supplementation in selected cases per specialist guidance
- Vestibular/balance support and fall-prevention strategies in type 1
- Early communication-modality planning and deaf-blind support services as vision declines
"USHER": UnSteady (balance issues), HEaring loss, Retinitis pigmentosa. The three cardinal features are spelled out in the name.