Masquerade Case #3

This case was presented at Pediatric Subspecialty Day 2016 by Dr. Richard Lewis.

A 23-year-old woman presented for a "metabolic evaluation." She reported normal vision until late high school and then experienced painless progressive loss of vision, worse in her right eye than her left, for 5 years, a process that she ignored until age 22. An optometric examination showed visual acuity of 20/20 in each eye, but she was given glasses "for reading." Incidentally at the end of the examination, she was told that she had "cataracts in each eye," but no referral was made. The final diagnosis is autosomal dominant cerulean cataract.