- 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.
- 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.