Real-world clinical experience with Idebenone in the treatment of Leber hereditary optic neuropathy

Background: Leber hereditary optic neuropathy (LHON) leads to bilateral central vision loss. In a clinical trial setting, idebenone has been shown to be safe and to provide a trend toward improved visual acuity, but long-term evidence of effectiveness in real-world clinical practice is sparse. Methods: Open-label, multicenter, retrospective, noncontrolled analysis of long-term visual acuity and safety in 111 LHON patients treated with idebenone (900 mg/day) in an expanded access program. Eligible patients had a confirmed mitochondrial DNA mutation and had experienced the onset of symptoms (most recent eye) within 1 year before enrollment. Data on visual acuity and adverse events were collected as per normal clinical practice. Efficacy was assessed as the proportion of patients with either a clinically relevant recovery (CRR) or a clinically relevant stabilization (CRS) of visual acuity. In the case of CRR, time to and magnitude of recovery over the course of time were also assessed. Results: At time of analysis, 87 patients had provided longitudinal efficacy data. Average treatment duration was 25.6 months. CRR was observed in 46.0% of patients. Analysis of treatment effect by duration showed that the proportion of patients with recovery and the magnitude of recovery increased with treatment duration. Average gain in best-corrected visual acuity for responders was 0.72 logarithm of the minimal angle of resolution (logMAR), equivalent to more than 7 lines on the Early Treatment Diabetic Retinopathy Study (ETDRS) chart. Furthermore, 50% of patients who had a visual acuity below 1.0 logMAR in at least one eye at initiation of treatment successfully maintained their vision below this threshold by last observation. Idebenone was well tolerated, with most adverse events classified as minor. Conclusions: These data demonstrate the benefit of idebenone treatment in recovering lost vision and maintaining good residual vision in a real-world setting. Together, these findings indicate that idebenone treatment should be initiated early and be maintained more than 24 months to maximize efficacy. Safety results were consistent with the known safety profile of idebenone

Which One is The Real Zebra

A 15-year-old male complained of headaches and nausea, two months after appendectomy.A 15-year-old male complained of headaches and nausea, two months after appendectomy.Magnetic Resonance ImagingProton Radiation Therap

Let's Put It Under High Mag (PowerPoint)

Drooping left eyelid; Diplopia; HeadacheA 56-year old male with acute onset of droopy left eyelid and double vision associated with headaches. Previous history significant for type II diabetes and hyperlipidemia and Dx Bell palsy.VA: 20/20 OU; Normal color visionCT; MRIDemyelinating polyneuropathyCorticosteroids; Antiviral agents; Antirheumatic agents1. McCombe PA, Pollard JD, McLeod JG. Chronic inflammatory demyelinating polyradiculoneuropathy. A clinical and electrophysiological study of 92 cases.Brain. 1987 Dec;110:1617-30. 2. Katz JS, Saperstein DS, Gronseth G, Amato AA, Barohn RJ. Distal acquired demyelinating symmetric neuropathy. Neurology. 2000 Feb 8;54(3):615-20. 3. Notermans NC, Franssen H, Eurelings M, Van der Graaf Y, Wokke JH. Diagnostic criteria for demyelinating polyneuropathy associated with monoclonal gammopathy. Muscle Nerve 23(1):73-9, 2000. 4. Yoshida T, Yazaki M, Gono T, Tazawa K, Morita H, Matsuda M, Funakoshi K, Yuki N, Ikeda S. Severe cranial nerve involvement in a patient with monoclonal anti-MAG/SGPG IgM antibody and localized hard palate amyloidosis. J Neurol Sci 15;244(1-2):167-71, 2006. 5. Maillot F, Gelot A, Diot E, Larmande P, Guilmot JL. [IgM anti-MAG neuropathy with involvement of the cranial nerves disclosing B-cell lymphoma]. Ann Med Interne (Paris 147(5):373-4, 1996

Acquired Isolated Third Nerve Palsies in Infants with Cerebrovascular Abnormalities

To report two infants with acquired, isolated third nerve palsies due to intracranial cerebrovascular abnormalities

Let's Put It Under High Mag

Drooping left eyelid; Diplopia; HeadacheA 56-year old male with acute onset of droopy left eyelid and double vision associated with headaches. Previous history significant for type II diabetes and hyperlipidemia and a Dx of Bell palsy.VA: 20/20 OU; Normal color visionCT; MRIDemyelinating polyneuropathyCorticosterolids; Antiviral agents; Antirheumatic agents1. McCombe PA, Pollard JD, McLeod JG. Chronic inflammatory demyelinating polyradiculoneuropathy. A clinical and electrophysiological study of 92 cases.Brain. 1987 Dec;110:1617-30. 2. Katz JS, Saperstein DS, Gronseth G, Amato AA, Barohn RJ. Distal acquired demyelinating symmetric neuropathy. Neurology. 2000 Feb 8;54(3):615-20. 3. Notermans NC, Franssen H, Eurelings M, Van der Graaf Y, Wokke JH. Diagnostic criteria for demyelinating polyneuropathy associated with monoclonal gammopathy. Muscle Nerve 23(1):73-9, 2000. 4. Yoshida T, Yazaki M, Gono T, Tazawa K, Morita H, Matsuda M, Funakoshi K, Yuki N, Ikeda S. Severe cranial nerve involvement in a patient with monoclonal anti-MAG/SGPG IgM antibody and localized hard palate amyloidosis. J Neurol Sci 15;244(1-2):167-71, 2006. 5. Maillot F, Gelot A, Diot E, Larmande P, Guilmot JL. [IgM anti-MAG neuropathy with involvement of the cranial nerves disclosing B-cell lymphoma]. Ann Med Interne (Paris 147(5):373-4, 1996

Success of Prisms in the Management of Diplopia Due to Fourth Nerve Palsy

To analyze the success of prism use in alleviating diplopia in patients with fourth nerve palsy and to provide recommendations for prism prescription.In this retrospective cohort study, the medical records of 83 patients who were prescribed prisms for symptomatic diplopia due to fourth nerve palsy were analyzed. Data on the nature and duration of diplopia, motility and alignment findings, and amount and type of prism prescribed were recorded. The success of prescribed prismatic correction was assessed by the patient's self-reporting of satisfaction with prism use and follow-up records. The main outcome measure was the satisfaction rate associated with the use of prisms (satisfaction score 1 or 2) in patients with fourth nerve palsy.There were 69 patients with congenital fourth nerve palsy and 14 patients with acquired fourth nerve palsy who received prisms. The mean primary position (SD) deviation in this group was 7.8 (4.6) prism diopters (PD). The mean prism prescription was 6 (2.9) PD. Overall, 92% of patients were satisfied with the use of prisms. During the length of follow-up, which ranged from 2 months to more than 6 years (median: 18 months), 86% of the cohort continued using prisms while 14% of patients underwent strabismus surgery. Among 15 patients who had primary position deviation greater than 15 PD, 80% of the patients reported satisfaction with prisms, and in the 11 patients who received 10 PD or more of prismatic correction, 82% were satisfied.Prisms are an effective modality for the management of patients with symptomatic diplopia due to fourth nerve palsy. Even in patients with larger deviations including those who were prescribed greater than 10 PD of correction, the success rate of prisms in alleviating diplopia was high. Prisms should be considered as initial therapy in symptomatic patients with fourth nerve palsy

Let's Put It Under High Mag

Drooping left eyelid; Diplopia; HeadacheA 56-year old male with acute onset of droopy left eyelid and double vision associated with headaches. Previous history significant for type II diabetes and hyperlipidemia and Dx Bell palsy.VA: 20/20 OU; Normal color visionCT; MRIDemyelinating polyneuropathyCorticosterolids; Antiviral agents; Antirheumatic agents1. McCombe PA, Pollard JD, McLeod JG. Chronic inflammatory demyelinating polyradiculoneuropathy. A clinical and electrophysiological study of 92 cases.Brain. 1987 Dec;110:1617-30. 2. Katz JS, Saperstein DS, Gronseth G, Amato AA, Barohn RJ. Distal acquired demyelinating symmetric neuropathy. Neurology. 2000 Feb 8;54(3):615-20. 3. Notermans NC, Franssen H, Eurelings M, Van der Graaf Y, Wokke JH. Diagnostic criteria for demyelinating polyneuropathy associated with monoclona gammopathy. Muscle Nerve 23(1):73-9, 2000. 4. Yoshida T, Yazaki M, Gono T, Tazawa K, Morita H, Matsuda M, Funakoshi K, Yuki N, Ikeda S. Severe cranial nerve involvement in a patient with monoclonal anti-MAG/SGPG IgM antibody and localized hard palate amyloidosis. J Neurol Sci 15;244(1-2):167-71, 2006. 5. Maillot F, Gelot A, Diot E, Larmande P, Guilmot JL. [IgM anti-MAG neuropathy with involvement of the cranial nerves disclosing B-cell lymphoma]. Ann Med Interne (Paris 147(5):373-4, 1996

Let's All Band Together!!

DiplopiaN/AN/AMRIRight cerebellar mass with oligoclonal bandsSurgery; XRT; Antineoplastic agents1. Capello E, Roccatagliata L, Pagano F, Mancardi GL. Tumor like multiple sclerosis (MS) lesions: neuropathological clues. Neurol Sci 2001;Suppl 2: S113-6. 2. Cohen O, Biran I, Steiner I. Cerebrospinal fluid oligoclonal IgG bands in patients with spinal arteriovenous malformation and structural central nervous system lesions. Arch Neurol 2000;57:553-7. 3. Dagher AP, Smirniotopoulos J. Tumefactive demyelinating lesions. Neuroradiology 1996;38:560-65. 4. Friedman DI. Multiple sclerosis simulating a mass lesion. J Neuroophthalmol 2000;20:147-53. 5. Kepes JJ. Large focal tumor-like demyelinating lesions of the brain: intermediate entity between multiple sclerosis and acute disseminated encephalomyelitis? A study of 31 patients. Ann Neurol 1993;33:18-27. 6. Weinreb HJ. Demyelinating and neoplastic diseases in pregnancy. Neurol Clin 1994;12:509-26

The Art of Breaking Bad News (Video)

The main purpose of this optional symposium is to help develop "EQ" emotional quotient skills to assist in clinical decision making and conduct with regards to the doctor-patient relationship and interactions, focusing on patient interactions and communication. Upon completion of this session, participants should be able to: (1) identify common heuristic decisionmaking errors with relevance to neuro-ophthalmology, (2) employ skills to avert making medical errors, (3) demonstrate empathy when delivering bad news, and (4) communicate efficiently with patients who have specific challenges with communication

When Small Is Big

Loss of depth perception with loss of vision ODA 44-year-old male with a 1-day history of loss of depth perception and visual loss OD. Previous history significant for Lyme disease and Bell palsy.VA: NLP OD, 20/50 OS; RAPD ODCT; MRISmall cell carcinomaIV steroids; Surgery; XRT; Antineoplastic agents1. Koss LG, Spiro RH, Hajdu S. Small cell (oat cell) carcinoma of minor salivary gland origin. Cancer 1972; 30: 737-741. 2. Weiss MD, Defries HO, Taxy JB et al. Primary small cell carcinoma of the paranasal sinuses. Arch Otolaryngol 1983; 109:341-343. 3. Rejowski JE, Campanella RS, Block LJ. Small cell carcinoma of the nose and paranasal sinuses. Otolaryngol Head Neck Surg 1982; 90:516-517. 4. Galanis E, Frytak S, Lloyd RV. Extrapulmonary small cell carcinoma. Cancer 1997; 79:1729-1736. 5. Raychowdhuri RN. Oat cell carcinoma of the paranasal sinuses. J Laryngol Otol 1965; 79:253-255. 6. Perez-Ordonez B, Caruana SM, Huvos AG, Shah JP. Small cell neuroendocrine carcinoma of the nasal cavity and paranasal sinuses. Human Pathology 1998; 29(8): 826-32