An 18-month-old boy has profound bilateral sensorineural hearing loss identified on newborn screening. He never walked independently because of poor balance, and vestibular testing shows absent responses bilaterally. Fundus examination is normal at present. Which additional finding would complete the picture of his syndrome?
- A Retinitis pigmentosa appearing over the next few years ✓
- B Euthyroid multinodular goitre in adolescence
- C Unilateral renal agenesis
- D Bilateral branchial fistulae
Correct answer: A. Retinitis pigmentosa appearing over the next few years
Explanation
Usher syndrome type 1 combines congenital profound sensorineural hearing loss, vestibular areflexia with delayed motor milestones such as late walking, and retinitis pigmentosa that typically declares itself in childhood or adolescence. The retina is normal in infancy, so a normal fundus does not exclude it. Goitre suggests Pendred syndrome, renal anomalies suggest branchio-oto-renal syndrome, and branchial fistulae belong to branchial arch syndromes.
Reference: Scott-Brown's Otorhinolaryngology Head and Neck Surgery, 8th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.