PURPOSE OF REVIEW: The purpose of this study is to review commonly encountered adverse ocular effects of illicit drug use. RECENT FINDINGS: Drug and alcohol abuse can produce a variety of ocular and neuro-ophthalmic side effects. Novel, so-called 'designer', drugs of abuse can lead to unusual ocular disorders. Legal substances, when used in manners for which they have not been prescribed, can also have devastating ophthalmic consequences. SUMMARY: In this review, we will systematically evaluate each part of the visual pathways and discuss how individual drugs may affect them.
We present the case of an 8-year-old girl with chronic recurrent multifocal osteomyelitis (CRMO) involving the orbit and facial bone and causing left optic neuropathy. She presented with intermittent left periorbital swelling and a history of CRMO diagnosed 5 years earlier. Her disease responded well to adalimumab; however, delayed presentation resulted in permanent unilateral optic nerve atrophy and reduced vision. Orbital inflammatory disease is a rare manifestation of CRMO, and early recognition of the disease and treatment may prevent irreversible vision loss.[Formula presented]
PURPOSE: The purpose of this study was to evaluate whether papilledema severity is associated with specific demographic or clinical factors in patients with idiopathic intracranial hypertension (IIH). MATERIALS AND METHODS: A retrospective cohort study of consecutive IIH patients seen at one tertiary care institution between 1989 and March 31, 2017 was performed. IIH patients were classified as mild (Frisén Grade 1 or 2) or severe (Frisén Grade 4 or 5) based on grading of fundus photographs obtained at first presentation. Demographic and clinical variables including age, body mass index (BMI), gender, visual acuity, Humphrey visual field mean deviation, and cerebrospinal fluid (CSF) opening pressure were extracted from patient medical records for statistical analyses. RESULTS: A total of 239 patients were included in the study: 152 with mild papilledema and 87 with severe papilledema. There was no difference in age, race, BMI, or male gender between the mild and severe papilledema groups. CSF opening pressure was significantly higher in the severe papilledema group (41.89 cm of water vs. 33.69, 95% confidence interval [CI]:-10.79-5.62, P < 0.0001). There was a significant difference in the Humphrey mean deviation (-6.38 dB compared to-3.25 dB, 95% CI:-4.82-1.44 dB, P < 0.001) and average logarithm of the minimum angle of resolution visual acuity at final follow-up (0.21 vs. 0.045, 95% CI:-0.299-0.040, P = 0.01). CONCLUSION: Age, race, sex, and BMI were similar in IIH patients with mild versus severe papilledema, emphasizing the importance of a dilated fundus examination to reliably stratify patients. Patients with severe papilledema are at higher risk of visual acuity and visual field loss at final follow-up.
Extramedullary disease in multiple myeloma is uncommon and associated with a poorer prognosis. Extramedullary disease involving the orbit is even more unusual, with optic nerve involvement being rare. We describe an optic nerve head plasmacytoma in a 45-year-old female in the setting of systemic relapsed, refractory IgA kappa multiple myeloma. The case highlights the importance of keeping extramedullary disease spread in the differential for vision loss in a patient with a history of multiple myeloma. In addition, it describes an unusual location for presentation of extramedullary disease, the optic nerve head, which has rarely been described.
Importance: Diagnostic errors can lead to the initial misdiagnosis of optic nerve sheath meningiomas (ONSM), which can lead to vision loss.
Objective: To identify factors contributing to the initial misdiagnosis of ONSM.
Design, Setting, and Participants: We retrospectively reviewed 35 of 39 patients with unilateral ONSM (89.7%) who were seen in the tertiary neuro-ophthalmology practice at Emory University School of Medicine between January 2002 and M
arch 2017. The Diagnosis Error Evaluation and Research taxonomy tool was applied to cases with missed/delayed diagnoses.
Exposures: Evaluation in a neuro-ophthalmology clinic.
Main Outcomes and Measures: Identifying the cause of diagnostic errors for patients who initially received a misdiagnosis who were found to have ONSM.
Results: Of 35 patients with unilateral ONSM (30 women [85.7%]; mean [SD] age, 45.26 [15.73] years), 25 (71%) had a diagnosis delayed for a mean (SD) of 62.60 (89.26) months. The most common diagnostic error (19 of 25 [76%]) was clinician assessment failure (errors in hypothesis generation and weighing), followed by errors in diagnostic testing (15 of 25 [60%]). The most common initial misdiagnosis was optic neuritis (12 of 25 [48%]), followed by the failure to recognize optic neuropathy in patients with ocular disorders. Five patients who received a misdiagnosis (20%) underwent unnecessary lumbar puncture, 12 patients (48%) unnecessary laboratory tests, and 6 patients (24%) unnecessary steroid treatment. Among the 16 patients who initially received a misdiagnosis that was later correctly diagnosed at our institution, 11 (68.8%) had prior magnetic resonance imaging (MRI) results that were read as healthy; 5 (45.5%) showed ONSM but were misread by a non-neuroradiologist and 6 (54.5%) were performed incorrectly (no orbital sequence or contrast). Sixteen of the 25 patients (64%) had a poor visual outcome.
Conclusions and Relevance: Biased preestablished diagnoses, inaccurate funduscopic examinations, a failure to order the correct test (MRI brain/orbits with contrast), and a failure to correctly interpret MRI results were the most common sources of diagnostic errors and delayed diagnosis with worse visual outcomes and increased cost (more visits and tests). Easier access to neuro-ophthalmologists, improved diagnostic strategies, and education regarding neuroimaging should help prevent diagnostic errors..
Very poor (hand motion or worse) visual acuity at presentation is highly unusual in non-arteritic anterior ischaemic optic neuropathy. We retrospectively reviewed the medical records of 151 consecutive non-arteritic anterior ischaemic optic neuropathy patients seen at our institution between July 2014 and April 2016 to evaluate the frequency and characteristics of patients with very poor visual acuity in non-arteritic anterior ischaemic optic neuropathy. Hand motion or worse visual acuity was documented in 17 patients (11%); all patients had at least one vascular risk factor and 14 (82%) had at least two vascular risk factors. Although severe vision loss at presentation does occur in non-arteritic anterior ischaemic optic neuropathy, an extensive workup should be obtained to rule out another cause, especially arteritic anterior ischaemic optic neuropathy.
Purpose of review: To discuss recent advances in potential treatments for Leber hereditary optic neuropathy (LHON), a typically visually devastating hereditary optic neuropathy caused by mutations in the mitochondrial genome.
Recent findings: Idebenone has been proposed as a means of bypassing defective complex I activity and a free radical scavenger to prevent oxidative damage. EPI-743 may have more potency than idebenone, but no clinical trials have been performed. Gene therapy techniques have advanced significantly, including allotopic expression and nuclear transfer. Successful rescue of animal models of LHON with both of these therapies has been demonstrated. Introduction of exogenous DNA into the mitochondrial genome with mitochondrial targeting of viral vectors is another promising technique.
Summary: There are currently no proven treatments for LHON. However, there are many promising novel treatment modalities that are currently being evaluated, with several clinical trials underway or in the planning stages. Supportive measures and genetic counseling remain of great importance for these patients.
Exotropia (XT) in internuclear ophthalmoplegia (INO) is a difficult problem to treat. The purpose of this study is to describe surgical approaches in treating INO and glean insight into various pre-operative factors that may affect outcomes for XT in INO. We conducted a retrospective review from 1 January 1995–5 January 2021 and identified seven patients with INO who underwent strabismus surgery for XT. Patient age, sex, etiology of INO, pre-operative alignment and sensorimotor exam, presence of diplopia, surgery performed, subsequent surgeries, use of adjustable sutures, post-operative alignment, presence of post-operative diplopia, presence of post-operative diplopia with use of prism correction, and length of follow-up were all collected. Initial surgeries undertaken included unilateral medial rectus (MR) plication and lateral rectus (LR) recession, bilateral medial rectus (MR) plications or resections, or bilateral MR plications combined with either unilateral or bilateral LR recessions. Chart review yielded ten charts, however two were excluded due to manifest esotropia (ET), and one was excluded due to incomplete records. Seven total patients were used in final analysis. The cohort age range was from 29 to 79 years. Pre-operative horizontal distance alignment ranged from 35 to 95 XT with an average exodeviation of 67.8 ± 22.6 prism diopters (PD). Horizontal adduction deficit ranged from −1 to −4 and was present bilaterally in all patients. A variety of initial surgical approaches were undertaken. After two muscle surgeries, distance deviation had an average change of 57.3 PD. After three muscle surgeries, distance deviation had an average change of 75 PD. After four muscle surgeries, distance deviation had an average change of 60 PD. Three patients required additional surgery for XT. Time to follow-up ranged from 1 to 58 months. Horizontal distance alignment in primary gaze at latest follow-up ranged from 30 ET to 30 XT with an average of 0 (orthotropia) ± 16.0 PD. One patient had a consecutive esotropia of 30 PD, one had a persistent exotropia of 30 PD, and five patients were orthotropic at distance. All patients reported relief of diplopia in primary gaze at near and distance either with or without use of prism. Horizontal ductions improved to some degree in all patients. Horizontal rectus surgery can treat many cases of XT in INO. Surgeons should consider INO etiology and concomitant vertical deviations when considering surgery. The degree of pre-operative adduction limitation is another important factor, though did not always dictate final motor and sensory outcomes.