A young patient, poor night vision and hearing loss, what comes to your mind? Yes, RP! This case discusses the presentation of a patient with Usher syndrome (RP + hearing loss) and its associated testing and management plan.

24 y/o female noted poor night vision at age 10, diagnosed with RP at age 14

  • No family history of RP
  • Lost 40% of hearing at age 3, now with hearing aids, not progressive

On last visit (2017):

  • BCVA 20/20 OD, 20/25 OS
  • Trace PSC OU
  • Macula OCT with few cystic spaces OS>OD
  • HVF severely constricted OU

On exam today (2019):

  • BCVA 20/30 OD, 20/30-2 OS

Pupils:

OD: PERRL, No APD

OS: PERRL, No APD

IOP: OD: 11 OS: 12

EOM: Full range OU

Color vision: OD 14/14 OS 14/14

Refraction:

OD: +0.50+0.50×165 20/30

OS: Pl+0.75×180 20/30-2

Anterior segment evaluation:

Lens: 1+ PSC OU

WNL otherwise

Fundus exam:

C/D: 0.1 OU

Macula: Atrophy OU

Vessels: Attenuated OU

Periphery: Pigmentary changes OU

Interpretation of imaging:

Humphrey Visual Field – Severe constriction OU

OCT, Retina – Few cystic spaces OS>OD, Atrophic outer retina outside of macula, preserved IS/OS centrally OU.

Fundus Photos – Attenuation of vessels, peripheral pigmentary changes OU

Genetics Testing is positive for Ush2A

Assessment and Plan:

Usher type 2A. Hearing aids since age 3. Vision gradually worsening. BCVA good. 

Mild PSC changes, not visually significant.

OCT- No significant CME, few cysts 

RTC 1 year for macular OCT

HVF near legal blindness. The patient should not drive.