Lattice corneal dystrophy is a rare disease with a variety of etiologies. Historically, corneal dystrophies have been defined as bilateral, progressive processes that start in a patient’s first to second decade of life and have no correlation with systemic illnesses. While later studies on the corneal dystrophies defined the disease anatomically, recent advances in molecular and genetic biology have allowed for characterization of these dystrophies based on their underlying genetic mutations.
Here, we present a case of a 38-year-old male with a history of recurrent corneal ulcers, coming to the ER for foreign body sensation in his left eye for two weeks. His slit lamp examination revealed a 2x2 mm erosion in his left eye, as well as central, radiating lattice lines in both eyes typical of lattice corneal dystrophy type I. Our presentation reviews the potential causes of lattice presentation, with an emphasis on the underlying genetic pathophysiology. The TGFBI gene is a key player in the pathophysiology of classic type I lattice corneal dystrophy, as well as many of the other epithelial-stromal corneal dystrophies and contributes to the majority of lattice presentations. The gelsolin mutation results in the systemic manifestations of familial amyloid polyneuropathy and lattice type II corneal dystrophy; the ocular findings are different from the classic type I phenotype in that they have a later onset, involve the more peripheral cornea, and are devoid of erosions. Lastly, we review non-genetic causes of lattice corneal dystrophy and an atypical case related to systemic amyloidosis. We emphasize the importance of searching for an underlying systemic cause of atypical corneal findings in order to treat potentially life-threatening illnesses. While management of lattice corneal dystrophies today involve treatment of erosions and eventually surgical procedures, the future of treatment will hopefully target the disease’s underlying genetic mechanisms.
Presentation Date: 08/20/2020
Issue Date: 02/05/2021