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
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
OD: +0.50+0.50×165 20/30
OS: Pl+0.75×180 20/30-2
Anterior segment evaluation:
Lens: 1+ PSC OU
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.