A 54-year-old female presented for a contact lens fitting. Her right eye was post-penetrating keratoplasty four years prior, and her left eye is pictured above. The corneal findings were in the anterior stroma. Can you make the diagnosis?

This patient has lattice type 1 corneal dystrophy. Lattice type 1 is an autosomal dominant corneal dystrophy that has its onset in the first decade of life. The signs are thin, branching refractile lines and subepithelial dots at the onset, eventually taking on a ground glass appearance and becoming hazier later in life. Symptoms can include recurrent erosions, pain, discomfort, photosensitivity, and visual impairment.

If the haze becomes visually significant enough, a corneal transplant can be performed. Note though that the abnormal proteins that deposit in the cornea in lattice type 1 can also accumulate in the grafted tissue over time.

Lattice type 1 is one of seven corneal dystrophies that are known to be a result of a defect in the transforming growth factor beta-inducing (TGFBI) gene located on chromosome 5q31. When mutated, this gene defect results in abnormal proteins, which accumulate in the anterior cornea, Bowman’s layer, or anterior stroma.

This patient was successfully fitted in scleral lens in each eye. The grafted eye was able to achieve 20/20 vision through the lens, while the eye shown above achieved 20/50 with a lens, partially due to cataract as well as the cornea clarity.