Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy. Issue 6 (June 2016)

• Record Type: Journal Article
• Authors: Jabbour, Samir; Harissi-Dagher, Mona
• Is Part Of: Cornea. Volume 35:Issue 6(2016)
• Publication Date: 2016-06
• Subjects: tRNA mutation -- corneal opacification -- infantile cataract -- neurotrophic keratitis; Cornea -- Periodicals; Cornea -- Periodicals; Cornée -- Périodiques; 617.719
• DOI: 10.1097/ICO.0000000000000847
• Languages: English
• ISSNs: 0277-3740

Abstract

Abstract : 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.