Purpose:

To describe two cases of lattice corneal dystrophy in a mother and son – both with a rare TGFB1 variant mutation. The corneal dystrophy was unmasked by traumatic corneal events in both patients.

Methods:

This is a case series reporting on a 26-year-old male and his 62-year-old mother presenting with signs and symptoms of lattice corneal dystrophy at a university teaching hospital. A complete ophthalmic history and examination as well as genetic testing with whole exome sequencing (WES) and real time - polymerase chain reaction (RT-PCR) were completed. Genetic testing was conducted on epithelial tissue collected from the inner cheek with an iSWAB collection kit (Mawi DNA Technologies, Hayward, CA, USA). Genomic DNA was extracted with a QIAGEN QIAamp® DNA blood mini kit (Hilden, Germany), and WES was carried out with the ACE platform™ (Personalis Inc., Menlo Park, CA, USA).

Results:

The adult male presented with symptoms of recurrent corneal erosions 4 years after a tree branch injury in the right eye. He had a maternal family history of corneal transplantations to treat corneal dystrophies. Slit lamp examination revealed three epithelial defects within areas of lattice-like corneal changes in his right eye and an unremarkable left eye. WES revealed a mutation (H626R A>G) in the TGFBI gene. The result was verified with RT-PCR. His mother had an ophthalmic history positive for bilateral LASIK. Examination in the mother revealed bilateral lattice-like changes at the corneal flap interfaces. Genetic testing in the mother revealed the same mutation identified in her son.

Conclusions:

We believe these to be the first cases of lattice corneal dystrophy potentiated by trauma. Genetic testing prior to laser refractive surgery may prove to be beneficial in patients genetically susceptible to an inherited corneal dystrophy.