NIH 2019- Day 1

The girls did fairly well today. It was busy- especially for Cecilia. She had 7 different appointments. The biggest finding for them was what we already know about their vision, but putting actual data with it is difficult for us to hear.

Cecilia- (2018: CF @ 5 ft.)

Left AND Right eye: Hand motion only

Retinal change is minor. Optic nerve is more pale (optic nerve disease/temporal pallor), indicating degeneration.

Lilly- (2018: 20/250)

Right eye- hand motion only

Left eye- 20/800

Weaker right eye, could resolve large letters at 3 feet only with left eye.

OCT scan shows subtile changes with dramatic effects in central vision. Degradation in right eye is consistent with cln3 and incidental posterior subclavian cateract (not vision limiting, also normal in macular degeneration). Left eye also shows loss but to lesser extent. Lilly’s optic nerve in right eye has become more pale (temporal pallor) indicating more degeneration in the optic nerve, which explains the worse vision in her right eye.

The biggest change here is for Lilly. Her vision has declined more rapidly than Cecilia’s did, and her optic nerve is worse than Cecilia’s too.