Keplr-600X120-Above Article – Network of Docs Gaddie

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.

 

Stephane Fitoussi
Stéphane Fitoussi, OD is originally from Paris, France and earned his Bachelor of Optometry in Israel. He achieved his Doctorate of Optometry at Nova Southeastern University in Florida and his residency in Ocular disease at the Bascom Palmer Eye Institute in Miami. He is the creator and manager of Interesting Retinal Cases where retinal content is posted through interesting educational images and real-life cases.

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