Samir Jabbour1, Mona Harissi-Dagher. 1. Department of Ophthalmology, Centre Universitaire de l'Université de Montréal, Montreal, QC, Canada.
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.
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.
Authors: Alessandro Meduri; Giovanni William Oliverio; Antonio Valastro; Claudia Azzaro; Umberto Camellin; Francesco Franchina; Leandro Inferrera; Anna Roszkowska; Pasquale Aragona Journal: Front Med (Lausanne) Date: 2022-05-30
Authors: Tian Zhao; Caitlin Goedhart; Gerald Pfeffer; Steven C Greenway; Matthew Lines; Aneal Khan; A Micheil Innes; Timothy E Shutt Journal: Int J Mol Sci Date: 2020-11-06 Impact factor: 5.923