Cornea · 2016
Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy.
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Jabbour Samir, Harissi-Dagher Mona
Аннотация
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.
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.
Предметные рубрики MeSH
AdultBioprosthesisCataractCorneal OpacityFemaleGenes, RecessiveHumansIsoleucine-tRNA LigaseKeratitisKeratoplasty, PenetratingMitochondrial DiseasesMutation, MissenseOcular Motility DisordersOrbital DiseasesPeripheral Nervous System DiseasesProsthesis ImplantationReoperationTomography, Optical Coherence