An 8-year-old girl with congenital severe sensorineural hearing loss is referred for progressive difficulty seeing at night. Fundoscopy shows retinal pigment deposits with attenuation of retinal vessels. Vestibular testing shows absent caloric responses. Which additional feature would support the most likely diagnosis?

• A Progressive visual field constriction leading to tunnel vision ✓
• B Prolonged corrected QT interval on ECG
• C Mandibulofacial dysostosis with downward slanting palpebral fissures
• D Hypertelorism and heterochromia iridis

Explanation

Sensorineural hearing loss with retinitis pigmentosa, night blindness, vestibular areflexia, and progressive visual field constriction defines Usher syndrome, the most common syndrome associated with both deafness and blindness. Type 1 adds congenital profound deafness with absent vestibular function. Hypertelorism with heterochromia iridis suggests Waardenburg syndrome, prolonged QT suggests Jervell and Lange-Nielsen syndrome, and mandibulofacial dysostosis suggests Treacher Collins syndrome.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.