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Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).

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BACKGROUND: The most common causes of acquired pendular nystagmus (APN) are multiple sclerosis (MS) and oculopalatal tremor (OPT), both of which result in poor visual quality of life. The objective of our study was to evaluate the effects of memantine and gabapentin treatments on visual function. We also sought to correlate visual outcomes with ocular motor measures and to describe the side effects of our treatments. METHODS: This study was single-center cross-over trial. A total of 16 patients with chronic pendular nystagmus, 10 with MS and 6 with OPT were enrolled. Visual acuity (in logarithm of the minimum angle of resolution [LogMAR]), oscillopsia amplitude and direction, eye movement recordings, and visual function questionnaires (25-Item National Eye Institute Visual Functioning Questionnaire [NEI-VFQ-25]) were performed before and during the treatments (gabapentin: 300 mg 4 times a day and memantine: 10 mg 4 times a day). RESULTS: A total of 29 eyes with nystagmus were evaluated. Median near monocular visual acuity improved in both treatment arms, by 0.18 LogMAR on memantine and 0.12 LogMAR on gabapentin. Distance oscillopsia improved on memantine and on gabapentin. Median near oscillopsia did not significantly change on memantine or gabapentin. Significant improvement in ocular motor parameters was observed on both treatments. Because of side effects, 18.8% of patients discontinued memantine treatment-one of them for a serious adverse event. Only 6.7% of patients discontinued gabapentin. Baseline near oscillopsia was greater among those with higher nystagmus amplitude and velocity. CONCLUSIONS: This study demonstrated that both memantine and gabapentin reduce APN, improving functional visual outcomes. Gabapentin showed a better tolerability, suggesting that this agent should be used as a first-line agent for APN. Data from our investigation emphasize the importance of visual functional outcome evaluations in clinical trials for APN.

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Non-functioning pituitary adenoma may lead to blindness and causes visual impairment in 58% of cases and, more rarely, ocular motor disorder. Patients are slow to become aware of their visual dysfunction, vision in one eye compensating the deficit in the other. Assessment of visual function, comprising visual acuity and visual field evaluation and fundus examination, should be performed regularly according to the severity of impairment. Optic nerve optical coherence tomography (OCT) can quantify optic atrophy reproducibly, and is of prognostic value for postoperative visual recovery. Diplopia most often involves decompensation of heterophoria, visual field fusion being hampered by the visual field defect; such diplopia without ocular motor deficit is known as "hemifield slide". Diplopia associated with ocular motor palsy is caused by tumoral invasion of the cavernous sinus (IIIrd, IVth or VIth nerve palsy); in large impairment, restricted eye movement is easily observed; milder palsies require neuro-ophthalmologic assessment and/or Lancaster test. Pituitary apoplexy induces ocular motor impairment in 70% of cases, strongly guiding diagnosis. Visual impairment is associated in 75% of cases. The degree of neuro-ophthalmologic (visual and ocular motor) impairment is one of the main criteria guiding treatment of pituitary apoplexy (conservative medical and/or surgical treatment) and follow-up.

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OBJECT: While several approaches have been described for optic nerve decompression, the endoscopic endonasal route is gaining favor because it provides excellent exposure of the optic canal and the orbital apex in a minimally invasive manner. Very few studies have detailed the experience with nontraumatic optic nerve decompressions, whereas traumatic cases have been widely documented. Herein, the authors describe their preliminary experience with endoscopic endonasal decompression for nontraumatic optic neuropathies (NONs) to determine the procedure's efficacy and delineate its potential indications and limits. METHODS: The medical reports of patients who had undergone endoscopic endonasal optic nerve and orbital apex decompression for NONs at the Lyon University Neurosurgical Hospital in the period from January 2012 to March 2014 were reviewed. For all cases, clinical and imaging data on the underlying pathology and the patient, including demographics, preoperative and 6-month postoperative ophthalmological assessment results, symptom duration, operative details with video debriefing, as well as the immediate and delayed postoperative course, were collected from the medical records. RESULTS: Eleven patients underwent endoscopic endonasal decompression for NON in the multidisciplinary skull base surgery unit of the Lyon University Neurosurgical Hospital during the 27-month study period. The mean patient age was 53.4 years, and there was a clear female predominance (8 females and 3 males). Among the underlying pathologies were 4 sphenoorbital meningiomas (36%), 3 optic nerve meningiomas (27%), and 1 each of trigeminal neuroma (9%), orbital apex meningioma (9%), ossifying fibroma (9%), and inflammatory pseudotumor of the orbit (9%). Fifty-four percent of the patients had improved visual acuity at the 6-month follow-up. Only 1 patient whose sphenoorbital meningioma had been treated at the optic nerve atrophy stage continued to worsen despite surgical decompression. The 2 patients presenting with preoperative papilledema totally recovered. One case of postoperative epistaxis was successfully treated using balloon inflation, and 1 case of air swelling of the orbit spontaneously resolved. CONCLUSIONS: Endoscopic endonasal optic nerve decompression is a safe, effective, and minimally invasive technique affording the restoration of visual function in patients with nontraumatic compressive processes of the orbital apex and optic nerve. The timing of decompression remains crucial, and patients should undergo such a procedure early in the disease course before optic atrophy.

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BACKGROUND: With the refinement of the technique, endoscopic endonasal surgery increases its field of indications. The orbital compartment is among the locations easily reached through the nostril. This anteromedial approach has been described primarily for inflammatory or traumatic diseases, with few data for tumoral diseases. METHOD: Since 2010, this route has been used at our institution either for decompression or for biopsy of orbital tumoral diseases. FINDINGS/CONCLUSIONS: Even if further studies are warranted, this strategy proved to be beneficial for patients, with improvements in visual outcome. In this article, the authors summarize their technique and their experience with endonasal endoscopic orbital decompression. KEY POINTS: Nasal and sphenoidal anatomies determine the feasibility and risks for doing an efficient medial optic or orbit decompression. • Techniques and tools used are those developed for pituitary surgery. • A middle turbinectomy and posterior ethmoidectomy are mandatory to expose the medial wall of the orbit. • The Onodi cell is a key marker for the optic canal and must be opened up with caution. • The lamina papyracea is opened first with a spatula and the optic canal opened up by a gentle drilling under continuous irrigation from distal to proximal. • Drilling might always be used under continuous irrigation to avoid overheating of the optic nerve. An ultrasonic device can be used as well. • The nasal corridor is narrow and instruments may hide the infrared neuronavigation probe. To overcome this issue, a magnetic device could be useful. • Doppler control could be useful to locate the ICA. • The optic canal must be opened up from the tuberculum of the sella to the orbital apex and from the planum (anterior cranial fossa) to the lateral OCR or ICA canal • At the end of the procedure, the optic nerve becomes frequently pulsatile, which is a good marker of decompression.

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PURPOSE: Radiotherapy has shown its efficacy in controlling optic nerve sheath meningiomas (ONSM) tumor growth while allowing visual acuity to improve or stabilize. However, radiation-induced toxicity may ultimately jeopardize the functional benefit. The purpose of this study was to identify predictive factors of poor visual outcome in patients receiving radiotherapy for ONSM. METHODS AND MATERIALS: We conducted an extensive analysis of 10 patients with ONSM with regard to clinical, radiologic, and dosimetric aspects. All patients were treated with conformal radiotherapy and subsequently underwent biannual neuroophthalmologic and imaging assessments. Pretreatment and posttreatment values of visual acuity and visual field were compared with Wilcoxon's signed rank test. RESULTS: Visual acuity values significantly improved after radiotherapy. After a median follow-up time of 51 months, 6 patients had improved visual acuity, 4 patients had improved visual field, 1 patient was in stable condition, and 1 patient had deteriorated visual acuity and visual field. Tumor control rate was 100% at magnetic resonance imaging assessment. Visual acuity deterioration after radiotherapy was related to radiation-induced retinopathy in 2 patients and radiation-induced mature cataract in 1 patient. Study of radiotherapy parameters showed that the mean eye dose was significantly higher in those 3 patients who had deteriorated vision. CONCLUSIONS: Our study confirms that radiotherapy is efficient in treating ONSM. Long-term visual outcome may be compromised by radiation-induced side effects. Mean eye dose has to be considered as a limiting constraint in treatment planning.

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