title: Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Centre Universitaire de l'Université de Montréal, Montreal, QC, Canada.
authors.forename: Samir
authors.initials: S
authors.lastname: Jabbour
authors.forename: Mona
authors.initials: M
authors.lastname: Harissi-Dagher
mesh_terms: D000328:Adult; D001705:Bioprosthesis; D002386:Cataract / Q000235:genetics*; D003318:Corneal Opacity / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007533:Isoleucine-tRNA Ligase / Q000235:genetics*; D007634:Keratitis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D015948:Keratoplasty, Penetrating; D028361:Mitochondrial Diseases / Q000235:genetics*; D020125:Mutation, Missense; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000235:genetics; D009916:Orbital Diseases / Q000175:diagnosis / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D019919:Prosthesis Implantation; D012086:Reoperation; D041623:Tomography, Optical Coherence
chemical_list: D007533:Isoleucine-tRNA Ligase