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Editor, T he purpose of our study was to assess ophthalmological results in terms of visual acuity, reduction in visual field and proptosis and to compare this outcome to the radiological data and extent of surgical procedure in a retrospective cohort of 37 consecutive patients suffering from sphenoorbital meningiomas (SOMs) between 1 January 1986 and 31 December 2006. Data were collected from 37 women and three men aged between 33 and 76 years (mean age, 50 ± 9 years at diagnosis), with a mean follow-up of 7 ± 4 years. Mean preoperative visual acuity of the 37 patients was 0.31 ± 0.45 LogMAR, which did not significantly differ following surgery (0.25 ± 0.47 LogMAR) (p = 0.5). Visual acuity was observed to be normal in 15 patients (40.5%) for whom it remained stable during follow-up, with none of these patients experiencing any decrease in visual acuity following surgery. Among the 22 patients with initially altered visual acuity, 12 improved after surgery, five stabilized and five deteriorated. Neither initial proptosis nor initial visual acuity was a predictive factor for poor evolution of visual acuity. Similarly, no correlation was observed between initially altered visual acuity and final visual acuity (r = 0.11, p = 0.14). In terms of radiology, the initial effect on visual acuity signficantly correlated anatomically with involvement of the optic canal (p = 0.0033). The only negative factor identified for improved visual acuity during follow-up was the extension to the periorbit (Table 1). Initial proptosis and initial visual acuity were found to be negative predictive factors for final visual field defect. Preoperative integrity of the optic canal and cavernous sinus, as observed radiologically, was a predictive factor for having no final visual field defect. Finally, invasion of the optic canal and the presence of an intracranial soft-tissue component were both prodictors for severe final visual field defects. Proptosis was improved by surgical treatment, decreasing from 5.6 ± 3.6 mm preoperatively to 2.2 ± 2.7 mm postoperatively (p 2 mm

International audience; PurposeAutosomal dominant optic atrophy (ADOA, OMIM 165500), an inherited optic neuropathy that leads to retinal ganglion cell degeneration and reduced visual acuity during the early decades of life, is mainly associated with mutations in the OPA1 gene. Here we report a novel ADOA phenotype associated with a new pathogenic OPA1 gene mutation. Methods The patient, a 62-year-old woman, was referred for acute, painless, and severe visual loss in her right eye. Acute visual loss in her left eye occurred a year after initial presentation. MRI confirmed the diagnosis of isolated atrophic bilateral optic neuropathy. We performed DNA sequencing of the entire coding sequence and the exon/intron junctions of the OPA1 gene, and we searched for the mitochondrial DNA mutations responsible for Leber hereditary optic atrophy by sequencing entirely mitochondrial DNA. Mitochondrial respiratory chain complex activity and mitochondrial morphology were investigated in skin fibroblasts from the patient and controls. Results We identified a novel heterozygous missense mutation (c.2794C>T) in exon 27 of the OPA1 gene, resulting in an amino acid change (p.R932C) in the protein. This mutation, which affects a highly conserved amino acids, has not been previously reported, and was absent in 400 control chromosomes. Mitochondrial DNA sequence analysis did not reveal any mutation associated with Leber hereditary optic neuropathy or any pathogenic mutations. The investigation of skin fibroblasts from the patient revealed a coupling defect of oxidative phosphorylation and a larger proportion of short mitochondria than in controls. Conclusions The presence of an OPA1 mutation indicates that this sporadic, late-onset acute case of optic neuropathy is related to ADOA and to a mitochondrial energetic defect. This suggests that the mutational screening of the OPA1 gene would be justified in atypical cases of optic nerve atrophy with no evident cause.