Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy.

PURPOSE: To report the ocular findings of a rare case of mutation in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetase IARS2.

METHODS

A 33-year-old woman known for infantile cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia was referred to us for multiple failed corneal grafts and severe eye dryness.

RESULTS

The patient was found to have neurotrophic keratitis and corneal opacification.

CONCLUSIONS

Patients with this very rare mutation present with a myriad of ocular findings, including infantile cataract, neurotrophic keratitis, corneal opacification, and orbital myopathy.