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Purpose To identify the most accurate diagnostic imaging modality for classifying pediatric eyes as papilledema (PE) or pseudopapilledema (PPE). Design Prospective observational study. Subjects Nineteen children between the ages of 5 and 18 years were recruited. Five children (10 eyes) with PE, 11 children (19 eyes) with PPE owing to suspected buried optic disc drusen (ODD), and 3 children (6 eyes) with PPE owing to superficial ODD were included. Methods All subjects underwent imaging with B-scan ultrasonography, fundus photography, autofluorescence, fluorescein angiography (FA), optical coherence tomography (OCT) of the retinal nerve fiber layer (RNFL), and volumetric OCT scans through the optic nerve head with standard spectral-domain (SD OCT) and enhanced depth imaging (EDI OCT) settings. Images were read by 3 masked neuro-ophthalmologists, and the final image interpretation was based on 2 of 3 reads. Image interpretations were compared with clinical diagnosis to calculate accuracy and misinterpretation rates of each imaging modality. Main Outcome Measures Accuracy of each imaging technique for classifying eyes as PE or PPE, and misinterpretation rates of each imaging modality for PE and PPE. Results Fluorescein angiography had the highest accuracy (97%, 34 of 35 eyes, 95% confidence interval 92%–100%) for classifying an eye as PE or PPE. FA of eyes with PE showed leakage of the optic nerve, whereas eyes with suspected buried ODD demonstrated no hyperfluorescence, and eyes with superficial ODD showed nodular staining. Other modalities had substantial likelihood (30%–70%) of misinterpretation of PE as PPE. Conclusions The best imaging technique for correctly classifying pediatric eyes as PPE or PE is FA. Other imaging modalities, if used in isolation, are more likely to lead to misinterpretation of PE as PPE, which could potentially result in failure to identify a life-threatening disorder causing elevated intracranial pressure and papilledema.

Purpose To illustrate the natural history of Leber's hereditary optic neuropathy (LHON). Design Prospective observational case series. Participants The Soave-Brazil pedigree of m.11778G>A/ND4 mitochondrial DNA LHON mutation. Methods A prospectively acquired database of the Soave-Brazil pedigree was reviewed. Data from 285 individuals were included in the database over a 15-year period. The pedigree was reviewed for unaffected mutation carriers who converted to affected status, 6 patients with LHON were identified. The medical records were reviewed 1 year preconversion to 1 year postconversion for visual acuity (logarithm of the minimum angle of resolution [logMAR]), Humphrey Visual Field (HVF) mean deviation (MD), and retinal nerve fiber layer (RNFL) thickness, as measured by Cirrus (Carl Zeiss, Oberkochen, Germany) optic coherence tomography (OCT). The RNFL thickness values were normalized for age. Visual acuity, HVF, and processed RNFL data from each of the 12 eyes were then sorted into 2-month time periods relative to the date of conversion, within which they were averaged. Main Outcome Measures The main outcome measures were visual acuity, HVF MD, and RNFL thickness. Results Decreased visual acuity preceded conversion by up to 2 months and then declined up to 8 months postconversion. Decrease in HVF MD occurred at least 4 months preceding conversion, after which values decreased until plateau at 6 to 8 months. Average RNFL thickness was above normal baseline thickness in all 4 quadrants as measured by OCT at the time of conversion. Increase in RNFL thickness preceded conversion as early as 4 to 6 months, peaked at conversion, and decreased until individual plateaus. The temporal quadrant was first to be involved, then the inferior and superior quadrants, and the nasal quadrant showed the latest and least changes. Conclusions Subclinical changes preceded the date of conversion and may reflect the complicated nature of identifying the date of conversion in LHON. Early increases in RNFL preceding conversion suggest that structural changes precede clinically significant vision loss. Asynchronous quadrant involvement supports a previously published mathematical model. The natural history of LHON is not a subacute process, as previously believed, but progresses more slowly, taking up to 8 months to plateau.

To measure the effects of macular pucker (MP) on macular structure and quantify function by measuring visual acuity (VA), contrast sensitivity (CS), and distortions. The effects of surgery were quantitatively evaluated using these measures.Prospective, comparative case series.Fifty-three patients with unilateral MP and normal fellow eyes: 24 operated MP subjects, 17 unoperated controls, and 12 reproducibility subjects.Posterior vitreous detachment was diagnosed by ultrasound and ellipsoid zone disruption (EZD) was determined by OCT, which also measured macular thickness and volume. Vision was assessed, by measuring VA (logMAR) and CS (Freiburg acuity contrast testing: Weber index, %W). A visual distortions index (%DI) was calculated using 3-dimensional threshold Amsler grid testing. Comparisons to controls were performed before surgery and at 1, 3, 6, and 12 months after vitrectomy/membrane peel without chromodissection.Posterior vitreous detachment (ultrasound), EZD (OCT), macular thickness and volume (OCT), VA (logMAR), CS (%W), distortions (%DI).Posterior vitreous detachment was present in 90% of MP eyes, but only 50% of fellow eyes (P 0.001). All structural and functional indices were worse (28% to 5-fold) in the 24 operated MP eyes than the 17 unoperated MP eyes (P0.001). Before surgery, EZD was present in 33% of operated MP eyes but none of the unoperated MP eyes (P0.02). The macula was thicker (514±85 μm vs. 257±59 μm; P0.001) with greater volume (3.22±0.56 μl vs. 2.14±0.22 μl; P0.001) in operated MP eyes than normal fellow eyes. Before surgery, MP eyes had VA = 0.53 logMAR (Snellen equivalent, 20/67) vs. controls = 0.21 (20/32); P0.001; CS was 8.61±5.36 %W vs. controls = 3.71±1.47 %W (P0.001); and distortions were 7.61±12.6 %DI vs. controls = 0.13±0.61 %DI (P0.001). EZD was associated with worse VA (P0.01) and CS (P0.03) before and after surgery. Each outcome measure improved progressively at 1, 3, 6, and 12 months after surgery, but only %DI and macular volume normalized.These quantitative measures characterize the impact of MP on macular structure and function. All indices improved after surgery, but only distortions and macular volume normalized. Contrast sensitivity measurements and quantification of distortions can objectively assess visual dysfunction in MP and may be useful outcome measures of therapy.

TOPIC: Optical coherence tomography (OCT) is a non-invasive tool to measure specific retinal layers in the eye. The relationship of retinal spectral domain-OCT (SD-OCT) measurements with Alzheimer’s Disease (AD) and mild cognitive impairment (MCI) remains unclear. Hence, we conducted a systematic review and meta-analysis to examine the SD-OCT measurements in AD and MCI. CLINICAL RELEVANCE: Current methods of diagnosing early AD are expensive and invasive. Retinal measurements of SD-OCT, which are non-invasive, technically simple and inexpensive, are potential biomarkers of AD. METHODS: We conducted a literature search in PubMed and EMBASE to identify studies published before 31 December 2017 which assessed the associations between AD, MCI and measurements of SD-OCT: ganglion cell-inner plexiform layer (GC-IPL), ganglion cell complex (GCC), macular volume and choroidal thickness, in addition to retinal nerve fibre layer (RNFL) and macular thickness. We used a random-effect model to examine these relationships. We also conducted meta-regression, and assessed heterogeneity, publication bias and study quality. RESULTS: We identified 30 eligible studies, involving 1257 AD subjects, 305 MCI subjects and 1460 controls; all of which were cross-sectional studies. In terms of the macular structure, AD subjects had significant differences in GC-IPL thickness (standardized mean difference [SMD], −0.46; 95% confidence interval [CI], −0.80 to −0.11; I(2) = 71%), GCC thickness (SMD, −0.84; 95% CI, −1.10 to −0.57; I(2) = 0%), macular volume (SMD, −0.58; 95% CI, −1.03 to −0.14; I(2) = 80%) and macular thickness of all inner and outer sectors (SMD ranged −0.52 to −0.74; all p

Purpose To measure the retinal nerve fiber layer (RNFL) thickness by means of optical coherence tomography (OCT) in patients with dominant optic atrophy (DOA). Design Cross-sectional study. Participants Thirty-three patients from 15 pedigrees with DOA harboring heterozygous mutations in the OPA1 gene and 43 healthy subjects were enrolled. Methods The RNFLs of DOA patients were studied by OCT and compared with those of 43 healthy subjects matched for age and optic nerve head (ONH) size. Main Outcome Measures Retinal nerve fiber layer thickness. Results Dominant optic atrophy patients revealed a significant RNFL thickness reduction in all quadrants, with a preferential involvement of the temporal and inferior sectors. The progressive decline of RNFL thickness with age was similar to that observed in healthy subjects and was more evident in the 2 quadrants with higher residual amounts of fibers, that is, the superior and the inferior. The temporal quadrant was profoundly depleted of fiber so that the further rate of loss of microns per year is close to zero, whereas the nasal quadrant was spared the most by neurodegeneration. Conclusions The present findings, taken in conjunction with the authors' previous description of small ONH size in DOA, strongly suggest that patients with this disease are born with fewer optic nerve axons and support the hypothesis that subsequent visual loss depends on further age-related loss of fibers, which also occurs in controls. Financial Disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Objective Propionic acidemia is a rare metabolic disorder that is diagnosed in the early neonatal period. The disorder is characterized by life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. Herein we report the ocular findings in a prospective series of six patients with propionic acidemia. Design Prospective case series. Participants Six children (three male and three female) between the ages of 2 and 10 years with propionic acidemia who were examined at Children's Hospital Los Angeles. Methods A complete ophthalmic examination was performed on each of the six children. The examination included visual acuity testing, ocular motility, anterior segment examination, and funduscopic evaluation. Emphasis was placed on the function of the optic nerve and on the appearance of the optic disc, looking for possible atrophic changes. Main outcome measures The clinical appearance of the optic disc and evidence of optic neuropathy. Results Optic nerve atrophy was present exclusively in all of the male patients in the series; none of the female patients demonstrated any detectable impairment of optic nerve function. The optic nerve atrophy was symmetric and age dependent and varied from moderate to severe. There were no other anterior or posterior segment abnormalities, other than one case of unilateral morning glory syndrome, diagnosed at birth. There was no correlation between metabolic control and the development and progression of optic nerve atrophy. Conclusions Males with propionic acidemia have moderate to severe bilateral optic atrophy.

Purpose: Although previous studies have examined the risk of bilaterality of nonarteritic ischemic optic neuropathy (NAION), none have compared extensively the extent of visual loss between fellow eyes. The authors examined cases of bilateral NAION to determine the extent of vision loss in the second eye compared with that in the first eye. Methods: Thirty-one cases of bilateral NAION were reviewed. Variables included age, gender, and the presence of comorbid disease. Visual function was assessed by Snellen visual acuity, color vision, and pattern and mean deviation of the visual fields. Results: No correlation was detected between the extent or pattern of visual loss in fellow eyes. No significant difference in visual function existed between first and second eyes for the patients overall. Patients who retained better visual function in the second eye were significantly older than those who retained better visual function in the first eye (visual acuity, P = 0.0005; color vision, P = 0.07; mean deviation, P = 0.02). In patients older than 50 years of age (25 of 31 cases), the second eye had significantly better visual acuity ( P = 0.04) and less Humphrey visual field mean deviation ( P = 0.04) than the first eye. Conclusion: Visual function in the second eye correlated poorly with that of the first eye. Older patients with bilateral NAION retained better visual function in the second eye than in the first eye. For younger patients, the extent of visual loss in the second eye could not be predicted based on the visual loss in the first eye.

Background: Optic nerve gangliogliomas are extremely rare tumors of the central nervous system composed of elements of glial and neuronal origin. The clinical and biologic behavior of gangliogliomas depends on the glial component. Pilocytic gangliogliomas generally have a low growth rate and good ultimate prognosis. No definitive relation has yet been established between gangliogliomas and neurofibromatosis type 1. Methods: The authors describe the clinical, histologic, and immunohistochemical features of an optic nerve ganglioglioma with several atypical findings. A review of the literature is provided. Results: An optic nerve glioma was diagnosed in a 16-year-old patient who had signs of neurofibromatosis type 1; the atypical clinical course involved a rapid progression of symptoms with a significant increase in tumor size. The tumor was removed surgically and found to be a ganglioglioma composed of pilocytic glial cells (immunoperoxidase-positive for glial fibrillary acid protein) and neurons (immunoperoxidase-positive for neuron specific enolase, synaptophysin, and neurofilament). A focal astrocytic area showed increased cellularity, several mitotic figures, and an elevated labeling index with Ki-67 immunoperoxidase staining. Conclusion: Optic nerve gangliogliomas are rare tumors that cannot be distinguished clinically from pilocytic astrocytomas. Although these tumors usually grow slowly, careful follow-up is advised. The atypical histologic features are considered to be a manifestation of rapid local growth rather than a harbinger of malignant behavior. The authors' findings suggest that gangliogliomas may be included in the diagnostic criteria for neurofibromatosis type 1.

To describe clinical features in a large series of Möbius syndrome (MBS) cases, investigating whether specific neuro-ophthalmologic patterns of disease may provide further insight into MBS pathogenesis.Observational, prospective study.Fifty-five affected subjects.To make an MBS diagnosis, the criteria recommended in the First Scientific Conference on Möbius Syndrome were followed. Patients who did not meet the minimal criteria were classified as Möbius-like cases and were considered separately. Complete ophthalmologic evaluation, eyelid measurements, presence of abnormal tearing, and ocular motility also were assessed.Pattern of ocular motility alteration, visual function disturbances, and eyelid and tearing defect.Forty-six sporadic cases of true MBS were identified, with 3 specific patterns of ocular motility alterations. Pattern A, consisting of orthotopia in primary position with a complete defect in both abduction and adduction ocular movements, was found in 41% of cases. Pattern B, with large-angle esotropia, crossed fixation, and a relative sparing of convergence and adduction, was documented in 50% of cases. Pattern C, characterized by a large-angle exotropia in primary position with torticollis, absence of convergence, and vertical eye misalignment, was present in the minority of the patients (9%). Bilateral complete facial nerve palsy with lagophthalmos was present in 83% of patients; lacrimation showed abnormalities in 33% of cases. Visual acuity was good or impaired only moderately in all tested patients. Binocular function was testable in 31 of 46 patients, and all of them showed a complete absence of stereopsis with suppressive scotoma.Based on the observed 3 different ocular motility defect patterns, the most compatible site and extension of the brainstem damage was inferred. Each pattern may reflect a different type of injury likely occurred during embryogenesis. The comparison of the characteristics of this series with those reported in different geographic areas supports the evidence that MBS does not differ phenotypically worldwide.The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Three cases of intracranial meningiomas occurring in young pregnant women are presented. The typical growth pattern of these tumors is slow, producing insidious and chronic visual disturbances. In contrast, during pregnancy meningiomas may follow a rapidly progressive course, producing dramatic and relatively acute visual loss. This accelerated growth pattern is probably mediated by hormone receptors in these tumors. Nausea, vomiting, and other symptoms caused by the tumor may be attributed to pregnancy, delaying the diagnosis. Symptoms may abate spontaneously after delivery only to recur with greater rapidity and severity during subsequent pregnancies. Hormone-responsive intracranial meningiomas must be considered in the differential diagnosis of visual disturbances during pregnancy. Close cooperation between the ophthalmologist, neurosurgeon, obstetrician, and neonatologist is essential for an optimal outcome. Although surgical excision remains the treatment of choice, hormonal therapy may be valuable in treating unresectable or partially resectable meningiomas.

Objective To compare the effectiveness of scanning laser entoptic perimetry with static automated perimetry as a noninvasive instrument for screening for glaucomatous damage in visually asymptomatic subjects within the central 60° (diameter) of vision. Design A masked cross-sectional study comparing entoptic perimetry to achromatic threshold perimetry. Participants Twenty-three subjects and controls from the Sharp Rees-Stealy Hospital and the Shiley Eye Center at the University of California, San Diego. Testing Virtual reality–based entoptic perimetry was compared with achromatic threshold perimetry. Main outcome measures For each testing session, we compared the presence of a disturbance in the entoptic perimetry stimulus with the presence of defects in visual function as measured by Humphrey automated visual field perimetry. Results Scanning laser entoptic perimetry reasonably estimates the overall visual field loss for moderate-to-severe scotomas as measured by the pattern deviation in standard visual field perimetry. Scanning laser entoptic perimetry has a sensitivity from 27% to 90% and a specificity from 50% to 100% for screening moderate-to-severe visual field defects caused by glaucoma within the central 60° diameter of vision. Conclusions Scanning laser entoptic perimetry may be an effective and inexpensive screening test in hospitals and community clinics for diagnosing visual field loss caused by glaucoma.

realized the concept of theophthalmoscope, first proposed in 1823 by Purkinje,and thus ushered in a new era in ophthalmology. Thisnew instrument enabled ophthalmologists to view theinside of the living eye, and a flurry of descriptionsfilled volumes of journals and texts for many years tocome. Although appealing, it is risky to infer causationor the underlying etiology on the basis of a finding onophthalmoscopy or other forms of physical examina-tion. Clinicopathologic correlation of ophthalmo-scopic findings with histopathologic analyses hasgreatly expanded our understanding of ocular disease.But after 2 centuries of experience with this approach,there remains the question of why an atrophic opticnerve looks pale. This is important, as optic disc palloror atrophy is a pathological end point that representsthe permanent loss of nerve fibers due to a variety ofdisorders of the inner retina and optic nerve, many ofwhich have very different etiologies. One hypothesisstates that the pallor may be due to glial cell (astro-cyte) proliferation in the wake of optic nerve axonaldegeneration, regardless of the cause.

Purpose: To determine whether the type of ophthalmic disease is predictive of sleep and wakefulness disturbances in young subjects with visual dysfunction. Design: Prospective cohort study. Participants and Controls: Twenty-five subjects (ages 12-20) were recruited from the Missouri School for the Blind. Twelve controls with normal sight were recruited from a residential school. Methods: Daily activity was monitored for 14 days using wrist actigraphy. Sleep and wakefulness measures were derived from actigraphy records by automated analysis. Visually impaired subjects were prospectively stratified by presence or absence of optic nerve disease. Main Outcome Measures: Daytime napping and regularity of awakening time (wake-up time instability). Results: Subjects with optic nerve disease napped in the daytime significantly more than other visually impaired children or normal sighted controls: 28.1 ±4.0 minutes per day (mean ± standard error) versus 11.9±2.4 minutes per day in equally visually impaired subjects with intact optic nerve function versus 6.2±2.2 minutes per day in subjects with normal sight (P

Optic nerves from ten patients with Alzheimer's disease were histologically examined and compared with those from age-matched controls. Specific and nonspecific measures of degeneration were noted in eight of ten Alzheimer's disease optic nerves; no degeneration was noted in any of the controls. Results of histologic examination of the retinas of one eye of three Alzheimer's disease patients also showed degeneration of retinal ganglion cells and their axons in the nerve fiber layer. Morphometric analysis suggested that in many cases of Alzheimer's disease, the optic nerve showed predominant loss of the largest class of retinal ganglion cells (M-cells) that contribute large caliber fibers to the optic nerve. The M-cell system is known to mediate specific visual functions, and selective involvement of the M-cell population leads to clinically measurable neuro-ophthalmic and psychophysical impairments in many Alzheimer's disease patients.

A 59-year-old Caucasian male presented with a darkly pigmented inner canthal tumor with a six-month history of rapid growth. Histopathologic examination demonstrated to be a pigmented basal cell epithelioma. While basal cell epitheliomas of the eyelids are common ophthalmic disorders, pigmented lesions are unusual. Pigmented basal cell epitheliomas pose a difficulty in clinical diagnosis because of their resemblance to melanomas and pigmented nevi. The differential diagnosis and treatment of this lesion is reviewed.

A healthy 48-year-old man developed Aspergillus keratitis following mild corneal trauma. Intensive medical therapy, initially empirical, then guided by in vitro sensitivity testing, as well as attempts at surgical excision of the infection, were ultimately nsuccessful. The poor therapeutic response may have been due to fungal penetration of the deep corneal stromal before treatment was initiated. The clinical and histologic features of A keratitis are described and related to fungal keratitis in general. The strengths and limitations of laboratory diagnostic aids are discussed. Fungal keratitis may follow a disarmingly mild early clinical course, but requires prompt, aggressive therapy if serious complications are to be avoided.

A healthy 27-year-old West African man presented to the emergency room at the Massachusetts Eye and Ear Infirmary complaining of a moving foreign body sensation in his right eye. He had experienced recurrent episodes of subconjunctival Loa Loa, a parasite endemic in Africa. A cryoprobe was successfully used for extraction of a large adult worm. Strategies for the removal of subconjunctival worms are presented. The systemic and ocular manifestations of Loa Loa are reviewed and a discussion of complications of medical management follows.