History/Chief Complaints

  • 43 yo male with a history of reduced day vision over the past year, right eye greater than left, and progressive loss of night vision for over a decade OU.
  • Reports that his older sister has a similar vision disorder.
  • General health history reported as unremarkable but his last exam was at least a decade earlier.

Clinical Findings

  • BCVA 3/400 OD 20/80 OS.
  • Slit lamp exam- very subtle and superficial crystalline deposits within the corneal limbus OU.
  • Fundus exam: An atrophic appearing retina with easily observable large choroidal vessels in the posterior pole OU.
  • Numerous tiny retractile yellowish crystals or discrete white dots OU.
  • Attenuated arterioles OU.
  • Widespread pigmentary changes most marked in the mid and far peripheral fundus OU.
  • Fields-Goldman Visual fields very contracted with various isopters OU.
  • Flash ERGs- extinguished under both scotopic and photopic conditions.


  • Virtually complete absence of the Photoreceptor Integrity Line (PIL) (see page 13) OU.
  • Quite attenuated retinal pigment epithelium (RPE).
  • Small retractile dots most obvious on the anterior border of a very prominent Bruch’s Membrane (BM) OU with other more subtle hyperreflective dots scattered in all layers of the retina OU.
  • Multiple, hollow circular or oval bodies in the outer retina anterior to an intact BM OU.