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Optic nerve cupping or enlargement of the cup-to-disc ratio is widely recognized as a feature of glaucoma, however it may also occur in non-glaucomatous optic neuropathies. The most well-recognized non-glaucomatous optic neuropathies that cause cupping include compressive optic neuropathies, arteritic anterior ischemic optic neuropathies, hereditary optic neuropathies, and optic neuritis. Cupping is thought to consist of two main components: prelaminar and laminar thinning. The former is a shallow form of cupping and related to loss of retinal ganglion cells, whereas the latter involves damage to the lamina cribrosa and peripapillary scleral connective tissue. Differentiating glaucomatous and non-glaucomatous optic nerve cupping remains challenging even for experienced observers. Classically, the optic nerve in non-glaucomatous causes has pallor of the neuroretinal rim, but the optic nerve should not be examined in isolation. The patient’s medical history, history of presenting illness, visual function (visual acuity, color vision and visual field testing) and ocular examination also need to be considered. Ancillary testing such as optical coherence tomography of the retinal nerve fiber layer and ganglion cell layer-inner plexiform layer may also be helpful in localizing the disease. In this review, we review the non-glaucomatous causes of cupping and provide an approach to evaluating a patient that presents with an enlarged cup-to-disc ratio.

BACKGROUND: To determine risk factors for postradiation optic atrophy (PROA) after plaque radiotherapy for uveal melanoma. METHODS: A single center, retrospective cohort study of patients diagnosed with uveal melanoma involving choroid and/or ciliary body treated with plaque between January 1, 2008, and December 31, 2016. Outcomes included development of PROA with pallor alone or with concomitant neuroretinal rim thinning (NRT). Cox regression analysis was performed to identify risk factors for PROA. RESULTS: Of 78 plaque-irradiated patients, PROA developed in 41 (53%), with concomitant NRT in 15 (19%). Risk factors for PROA of any type included presentation with worse visual acuity (odds ratio [95% confidence interval] 5.6 [2.3–14.1], P < 0.001), higher baseline intraocular pressure (IOP; 14 vs 16 mm Hg) (1.1 [1.0–1.2], P = 0.03), shorter tumor distance to optic disc (1.3 [1.2–1.5], P < 0.001) and foveola (1.2 [1.1–1.3], P < 0.001), subfoveal subretinal fluid (3.8 [2.0–7.1], P < 0.001), greater radiation prescription depth (1.3 [1.1–1.6], P = 0.002), dose to fovea (point dose) (1.01 [1.01–1.02], P < 0.001), and mean (1.02 [1.02–1.03], P < 0.001) and maximum dose to optic disc per 1 Gy increase (1.02 [1.01–1.03], P < 0.001). On multivariate modeling, dose to disc, baseline IOP, and subfoveal fluid remained significant. Subanalysis revealed risk factors for pallor with NRT of greater mean radiation dose to disc (1.03 [1.01–1.05], P = 0.003), higher maximum IOP (17 vs 20 mm Hg) (1.4 [1.2–1.7], P < 0.001), and subfoveal fluid (12 [2–63], P = 0.004). CONCLUSION: PROA may result in NRT in addition to optic disc pallor. Risk factors for PROA included higher radiation dose to optic disc, higher baseline IOP, and subfoveal fluid. Higher maximum IOP contributed to concomitant NRT.

Rabih Hage,1 Claire Alapetite,2 Hervé Brisse,3,4 Kevin Zuber,5 Augustin Lecler,6 Guillaume Lot,7 Caroline Le Guerinel,7 Catherine Vignal-Clermont,1 Herve Boissonnet7 1Neuro-ophthalmology Department, Hôpital Fondation A. de Rothschild, Paris, France; 2Radiation Oncology Department, and Proton Center Institut Curie, Paris-Orsay, France; 3Imaging Department, Institut Curie, Paris, France; 4Université des Sciences et Lettres, Paris, France; 5Department of Statistics and Clinical Research, Hôpital Fondation A. de Rothschild, Paris, France; 6Radiology Department, Hôpital Fondation A. de Rothschild, Paris, France; 7Neurosurgery Department, Hôpital Fondation A. de Rothschild, Paris, FranceCorrespondence: Rabih Hage Tel/Fax +33148036322Email rhage@for.parisPurpose: Management of optic nerve sheath meningiomas (ONSM) remains challenging. Photon radiation therapy (PhRT) is the most common treatment for sight-threatening ONSM. Proton beam therapy (PBT) is less commonly used because it is more expensive and because there are questions about its efficacy specifically in relation to ONSM. PBT has the theoretical advantage of reducing radiation exposure to adjacent structures. We report the visual outcome of patients with primary ONSM managed at the Fondation Ophtalmologique Adolphe de Rothschild, Paris, France, and treated with PBT at the Centre de Protonthérapie, Institut Curie, Orsay, France.Methods: We conducted a retrospective review of all patients with primary ONSM who received PBT (either by itself or following surgery) between January 2006 and January 2019. Neuro-ophthalmic examinations were performed at presentation and after radiotherapy, and, when applicable, after surgery. Meningiomas were measured at the time of diagnosis and at each follow-up MRI examination.Results: Sixty patients (50 women, 10 men; mean age, 45.2± 11.1y) were included, of whom 29 underwent surgery. At presentation, 52 (87%) of them had decreased vision (average visual acuity: 0.6 logMAR). Fundus examination showed optic disc swelling (n=27; 46.5%), optic disc pallor (n=22; 37.9%), optic disc cupping (n=2; 3.4%), opto-ciliary shunt (n=8; 13.8%), or choroidal folds (n=5; 8.6%). Otherwise, it was unremarkable (n=7; 12.1%). After treatment, visual function was stable overall. Fundus examination showed pallor (n=47; 83.9%), swelling (n=3; 5.4%), or cupping (n=2; 3.4%) of the optic disc, or was unremarkable (n=5; 8.9%). The visual field of 8 patients worsened, while 3 developed asymptomatic retinal hemorrhages. Tumor shrunk significantly in 8 patients at 1 year after PBT and remained stable in size in all others. Patients with opto-ciliary shunts had significantly worse visual outcome than other patients. Retinal abnormalities were observed in 11 patients during follow-up.Conclusion: PBT alone or in association with surgery appears to be a safe and efficient treatment for ONSM, reducing the tumor size and stabilizing visual function. The risk of developing radiation retinopathy seems to be higher when patients had upfront surgery.Keywords: optic nerve sheath meningioma, ONSM, proton beam therapy, PBT, compressive optic neuropathy, brain tumor, visual loss, opto-ciliary shunt, radiation retinopathy, RON

Purpose To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early‐onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequate referral, counselling and rehabilitation. Methods Medical chart review of 38 children who were referred to a specialized ophthalmological centre because of rapid vision loss. The patients were subsequently diagnosed with either CLN3 disease (18 patients) or early‐onset STGD1 (20 patients). Results Both children who were later diagnosed with CLN3 disease, as children who were later diagnosed with early‐onset STGD1, initially presented with visual acuity (VA) loss due to macular dystrophy at 5–10 years of age. VA in CLN3 disease decreased significantly faster than in STGD1 (p = 0.01). Colour vision was often already severely affected in CLN3 disease while unaffected or only mildly affected in STGD1. Optic disc pallor on fundoscopy and an abnormal nerve fibre layer on optical coherence tomography were common in CLN3 disease compared to generally unaffected in STGD1. In CLN3 disease, dark‐adapted (DA) full‐field electroretinogram (ERG) responses were either absent or electronegative. In early‐onset STGD1, DA ERG responses were generally unaffected. None of the STGD1 patients had an electronegative ERG. Conclusion Already upon presentation at the ophthalmologist, the retina in CLN3 disease is more extensively and more severely affected compared to the retina in early‐onset STGD1. This results in more rapid VA loss, severe colour vision abnormalities and abnormal DA ERG responses as the main differentiating early clinical features of CLN3 disease.

A 88-year-old female who was being treated for end-stage pseudoexfoliation syndrome was referred to our hospital for treatment of dislocated intraocular lens (IOL) and the elevated intraocular pressure (IOP) and in the right eye (RE). At the first visit to our hospital, best-corrected visual acuity (BCVA) was 0.2 in the RE and 0.02 in the left eye (LE). IOP was 47 mm Hg in the RE and 21 mm Hg in the LE. Slit-lamp examination showed no abnormalities in anterior segments and dislocated IOL in the RE. Fundus photograph showed optic disc pallor in both eyes. We performed the combined therapy of flanged intrascleral IOL fixation with the double-needle technique and trabeculectomy. Throughout the follow-up period, BCVA slightly improved from 0.2 to 0.4 in the RE. The angle of tilt of the IOL was 6.6, 7.9, and 8.7° as measured by swept-source optical coherence tomography at 1, 4, and 6 months after the surgery, respectively. The IOP remained less than 10 mm Hg without having to administer any other glaucoma medications. Furthermore, any complications associated with the surgery were not confirmed.

Introduction: To compare the optic nerve head (ONH) structure and microvasculature in patients with optic atrophy due to non-arteritic anterior ischemic optic neuropathy (NAION), compressive optic neuropathy (CON), methanol-induced optic neuropathy (MION), and traumatic optic neuropathy (TON) using optical coherence tomography angiography.Methods: In this comparative, cross-sectional study, 32 eyes with NAION, 18 eyes with CON, 32 eyes with MION, 23 eyes with TON, and 55 normal eyes were enrolled. Radial peripapillary capillary (RPC) vessel density, peripapillary retinal nerve fiber layer (RNFL) thickness, disc area, cup volume, and cup/disc area ratio were obtained using the RTVue XR Avanti system (Optovue Inc., Fremont, CA, USA).Results: RPC vessel density and peripapillary RNFL thickness in all patients were significantly lower than normal subjects. A positive correlation was found between the RPC vessel density and peripapillary RNFL thickness in normal subjects and all study groups. The positive correlation between the inside and outside disc RPC vessel density was only found in the NAION (r = 0.36, P = .042) and MION (r = 0.42, P = .018) groups. No significant difference was found among the groups in terms of peripapillary and inside disc vascular densities (all P > .05). Disc area and cup volume in patients with MION was larger than the values in patients with NAION (P = .018) and TON (P = .044) and normal subjects (P = .015). The discriminating features among the study groups were the larger cup volume and cup/disc area ratio in patients with MION, and lower RNFL thickness in patients with TON.Conclusions: There was a positive correlation between the RNFL thickness and peripapillary RPC vessel density regardless of the cause of optic disc pallor. Structural evaluation of the ONH seems to be a better way to differentiate the cause of optic nerve head atrophy than the microangiographic changes.

To evaluate the incidence of non-glaucomatous ocular disease in patients with asymmetric optic disc cupping. A retrospective case series, including consecutive patients with cup-to-disc ratio (CDR) asymmetry greater than 0.2. All patients underwent a complete neuro-ophthalmological examination, automated perimetry with the Humphrey 24-2 visual fields program. Retinal nerve fibre layer thickness was measured by optical coherence tomography (OCT). The results of neuroimaging, macular OCT and blood tests were recorded as well. Patients were assigned a diagnosis of glaucomatous optic neuropathy (GON) or non-glaucomatous disease (NGD). The main outcome measure was the rate of non-glaucomatous ocular disease. A total of 120 (67 males) patients with a mean age of 71.1 ± 12.5 years met the inclusion criteria and were included in this study. The mean asymmetry in CDR between the eyes was 0.3 ± 0.13 (range, 0.2–0.9). Twenty patients (16.6%) had a visual field defect not typical for glaucoma and positive relative afferent pupillary defect was found in 24 patients (20%). Six patients were found to have newly diagnosed non-glaucomatous ocular disease: maculopathy in three patients, retinopathy in one patient and traumatic optic neuropathy in two patients. Patients with NGD were significantly younger than the patients with GON (59.8 ± 23.3 vs. 71.3 ± 11.5 years, P = 0.001). Optic disc pallor was found in 4/93 patients with glaucoma compared to 3/6 with newly diagnosed non-glaucomatous disease (4.7% vs. 50.0%, P = 0.03). Asymmetric optic disc cupping can be associated with non-glaucomatous disease and may warrant neuro-ophthalmological evaluation, especially in younger patients or those with optic disc pallor.

Background: The research was done to evaluate the value of the visual evoked potentials test in the assessment of visual pathways function in cases with head trauma and minimal findings on routine testing. Materials and Methods: A prospective case series evaluating use of visual evoked potentials testing in patients with a history of head trauma and suffering from visual symptoms with no significant clinical and neuroimaging findings, referred for further work up. Results: Thirty-four patients with a history of head trauma and subsequent visual complaints were included. 27 cases (79.4%) were male and 7 cases (20.6%) were female. The mean elapsed time after the trauma was 47.6 weeks (range: 3.5 to 320 weeks). Twenty-five cases had unilateral and 9 cases had bilateral visual complaints. History of coma with mean duration of 12 days was present in 4 cases. The best-corrected visual acuity was less than 1 Log MAR (legally blind) in 21 eyes. In 4 eyes (12%) the relative afferent papillary defect test was positive. Mild to moderate optic disc pallor was present bilaterally in 4 cases and unilaterally in 3 cases. Hemorrhagic patches were reported on MRI in 2 cases; no other cases had pathologic MRI findings. In unilateral cases, there was a statistically significant difference between the involved eye-sided lobe and the sound eye-sided lobe implicit time and amplitude. In patients with bilateral complaints, by testing each eye, the VEP amplitudes of both eyes showed significant differences with the International Society for Clinical Electrophysiology of Vision standards, whereas the implicit times showed not-statistically significant differences. Conclusion: The visual evoked potentials test shows not only additional diagnostic value, not seen on routine clinical and neuroimaging testing, but also rather a high validity in tracing visual disability in traumatic brain injury.

BACKGROUND AND OBJECTIVE: Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with microcoria. The authors aim to describe the posterior segment and retinal features in Pierson syndrome. PATIENTS AND METHODS: A retrospective chart review of nine patients diagnosed with Pierson syndrome was ascertained. Details of ophthalmic history, ocular examination, retinal imaging, and surgical interventions were obtained during a median duration of 17 months of follow-up (range: 6 to 60 months). Retinal interventions included scatter laser photocoagulation and surgical retinal repair. RESULTS: Sixteen eyes of nine patients were included. The axial length of five eyes with flat retina was 26.59 mm ± 0.99 mm. Highly myopic features including tessellated fundus with accompanying optic disc pallor, unidentifiable cup, and abnormal retinal vascular emanation from the disc were observed in all eyes (100%), whereas 12 eyes (75%) had parapapillary chorioretinal atrophy. Features of abnormal retinal vascularization included avascular peripheral retina on fluorescein angiography, aberrant course of the temporal arcades in 13 eyes (81.3%), and straightened nasal retinal blood vessels in 12 eyes (75%). Tortuous retinal blood vessels were observed in three eyes (18.75%). Surgical repair was performed in five out of seven eyes with rhegmatogenous retinal detachment (RRD). Recurrence was observed in all eyes, which required two to three procedures to achieve final reattachment. CONCLUSIONS: Combined features of high axial myopia with incomplete peripheral vascular maturation characterize the posterior segment in Pierson syndrome. Careful posterior segment examination is essential to detect RRD or retinal neovascularization. [ Ophthalmic Surg Lasers Imaging Retina . 2020;51:618–627.]

Background Our purpose was to document the swept source optical coherence tomography (SSOCT) findings in a patient with Shaken baby syndrome (SBS). Case presentation SSOCT was obtained without sedation in a six-month-old girl with bilateral multilayered retinal hemorrhages due to SBS. It documented vitreoretinal interface abnormalities, including internal limiting membrane (ILM) detachment with retinal traction, in association with other specific changes in the inner and outer retinal layers. Six weeks later, retinal hemorrhages had substantially resolved, and there was optic disc pallor. OCT showed ILM reattachment with release of retinal traction and the development of severe diffuse retinal atrophy involving the fovea. Conclusions SS OCT can provide useful information in SBS, revealing a wide variety of vitreoretinal interface, inner, and outer retinal changes not detected by clinical examination. It also may have a prognostic value over follow-up.

Aim. The aim of the study was to determine the frequency of pathologies which can mimic normal-tension glaucoma (NTG), observed in neuroimaging of NTG patients, and to evaluate the frequency of pathologies in determined additional indications for neuroimaging. Material and Methods. The studied group consisted of 126 NTG patients who met at least one of the following criteria: unilateral NTG, damage in the visual field (VF) inconsistent with optic disc appearance, fast VF progression, worsening of visual acuity, predominant optic disc pallor rather than optic disc excavation, diagnosis under the age of 50, and scotoma in VF restricted by a vertical line. The patients included in the research underwent MRI scans of the brain and both orbits. Results. After neuroimaging, the results of 29 (23%) patients were qualified as positive; 18 (14.2%) of the identified pathologies were found to clinically affect the visual pathway. The most frequent brain pathology was intracranial meningiomas, observed in 4 patients (3.1%), followed by optic nerve sheath meningiomas diagnosed in 3 cases (2.4%), and brain glioma in 1 patient (0.8%). Pituitary gland adenomas were described in 6 patients (4.5%); 3 of the tumours were in contact with the optic chiasm. 53 (40%) patients had minimal ischemic changes in different regions of the brain. In the case of worsening BCVA or fast VF progression, the frequency of positive results was the highest (50% and 40%), whereas in the case of diagnosis at a young age and unilateral involvement, neuropathology was the rarest (0% and 6.9%). Conclusions. In the case of NTG, the decision to perform neuroimaging should be made after a detailed assessment of clinical status, rather in the event of finding the signs of possible compressive optic neuropathy than as an obligatory procedure for every patient.

Missense variants in TUBB3 have historically been associated with either congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or malformations of cortical development (MCD). Until a recent report identified two amino acid substitutions in four patients that had clinical features of both disorders, pathogenic variants of TUBB3 were thought distinct to either respective disorder. Three recurrent de novo Gly71Arg TUBB3 substitutions and a single patient with a de novo Gly98Ser substitution blurred the MCD and CFEOM3 phenotypic distinctions. Here we report a second patient with a missense c.292G>A (p.Gly98Ser) substitution, but without CFEOM3, the first reported evidence that even the same TUBB3 substitution can produce a spectrum of TUBB3 syndrome phenotypes. Our patient presented with amblyopia, exotropia, optic disc pallor, and developmental delay. Neuroimaging identified hypoplasia of the corpus callosum, interdigitation of the frontal lobe gyri, and dysplasia or hypoplasia of the optic nerves, basal ganglia, brainstem, and cerebellum. This report identifies the TUBB3 Gly98Ser substitution to be recurrent but inconsistently including CFEOM3, and identifies the absence of joint contractures and the presence of optic disc abnormalities that may be genotype-specific to the TUBB3 Gly98Ser substitution.

PURPOSE To report a case of ophthalmomyiasis interna with optic nerve invasion that was treated with oral ivermectin and prednisone. METHODS Case report with retrospective review of medical records and multi-modal imaging studies. RESULTS A Christmas tree farmer in his sixties presented with expanding multicolored, spiraling photopsias in the left eye. The visual acuity measured 20/50 and examination and imaging findings showed subretinal tracks consistent with ophthalmomyiasis interna. After several weeks of spontaneous improvement, the visual acuity decreased to 20/150 and fundus examination showed new optic disc edema that was treated with ivermectin and prednisone. Despite the development of optic disc pallor, the visual acuity improved to 20/25. CONCLUSION Subretinal fly larvae can occasionally exit the eye by invading the optic nerve. Treatment of optic nerve involvement with ivermectin and prednisone can result in an excellent visual outcome.

Purpose: To determine the efficacy of scleral buckling in eyes with stage 4A and 4B retinopathy of prematurity (ROP).Methods: Seven eyes of five premature infants underwent scleral buckling for stage 4 ROP in zone II. Five eyes had stage 4A ROP, and two eyes had stage 4B ROP. Six eyes had previous diode laser photocoagulation, and one eye had received an intravitreal ranibizumab injection. Scleral buckling was the procedure of choice due to lack of access to specialized pediatric vitrectomy instrumentation. Average age at surgery was 3.4 months. Postoperative anatomic retinal status, visual acuity outcome and refractive error were assessed. Results: The scleral buckle was removed on average 8 months after surgery. Retinal reattachment was achieved in all seven eyes. At final follow-up one eye had macular ectopia and disc dragging, one eye had a macular traction fold and two eyes had optic disc pallor. Average myopic error after buckle removal was -7.5 D.Conclusion: Scleral buckling can be performed safely and effectively in 4A and 4B stage ROP in critically-ill infants, when access to specialized pediatric vitrectomy instrumentation is limited. This surgical technique may provide adequate relief of vitreoretinal traction with improved visual potential.

Background: Ethambutol-induced optic neuropathy (EON) is a well-recognized ocular complication in patients who take ethambutol as a tuberculosis treatment. The aim of the current study was to investigate the presence of mitochondrial mutations, including OPA1 and Leber’s hereditary optic neuropathy (LHON)-mitochondrial DNA (mtDNA), in patients with EON and to determine their effect on clinical features of these patients.Methods: All 47 patients underwent clinical evaluations, including best-corrected visual acuity, fundus examination, and color fundus photography; 37 patients were then followed up over time. Molecular screening methods, including PCR-based sequencing of the OPA1 gene and LHON-mtDNA mutations, together with targeted exome sequencing, were used to detect mutations.Results: We detected 15 OPA1 mutations in 18 patients and two LHON-mtDNA mutations in four patients, for an overall mutation detection rate of 46.8%. The mean presentation age was significantly younger in the patients with the mitochondrial mutations (27.5 years) than in those without mutations (48 years). Fundus examination revealed a greater prevalence of optic disc hyperemia in the patients with mutations (70.5%) than without mutations (48%). Half of the patients with mutations and 91% of the patients without mutations had improved vision. After adjusting for confounders, the logistic regression revealed that the patients with optic disc pallor on the first visit (p = 0.004) or the patients with the mitochondrial mutations (p < 0.001) had a poorer vision prognosis.Conclusion: Our results indicated that carriers with OPA1 mutations might be more vulnerable for the toxicity of EMB to develop EON.

Observing optic disc pallor during a patient’s first visit frequently raises a diagnostic challenge, particularly in regards to whether the cause is due to glaucoma or another form of optic neuropathy. Bruch’s membrane opening (BMO) was recently discovered as the anatomical border of the optic disc. BMO minimum rim width (BMO-MRW) seems to be a reliable representation of the neuroretinal rim. In our study, we demonstrate the ability of BMO-MRWs to differentiate between glaucomatous and non-glaucomatous. Additionally, we propose an MRW ratio which may allow discrimination of open angle glaucoma from either non-arteritic anterior ischaemic optic neuropathy or compressive optic neuropathy.

Purpose. To report a case of a young patient with a clinical condition suggestive of Leber's hereditary optic neuropathy (LHON) confirmed by genetic testing. Material and methods. We present a case of a 21-year-old Caucasian male with bilateral visual loss. The patient complained of visual loss, initially in the right eye and two weeks thereafter in the left eye. Ophthalmological examination revealed visual acuity of 20/ 400 in both eyes, anterior segment of normal appearance, normal direct and consensual pupillary light reflexes, and absence of a relative afferent pupillary defect. Fundus examination demonstrated bilateral protruding, hyperemic, with blurred margins in the nasal quadrant papilla and reduced excavation, tortuous vessels, peripapillary telangiectasias. The optical coherence tomography (OCT) revealed bilateral increase of the retinal nerve fiber layer (RNFL) thickness and ganglion cell layer - inner plexiform layer complex (GCL-IPL complex) severely thinned. Results. The clinical suspicion of Leber's hereditary optic neuropathy was confirmed by the 3460 mutation, which was identified on blood mitochondrial analysis. Meantime, the visual acuity decreased to CF in both eyes. We initiated treatment with idebenone (300 mg T.I.D.). After three months of follow-up, visual acuity was CF in both eyes, bilateral pupillary light reflexes within normal limits and optic disc pallor was noticed in both eyes. Conclusion. No visual recovery was noticed after one year. We recommended that the idebenone treatment was continued and the patient was followed-up further.

Background Intracranial meningiomas that arise from the medial sphenoid ridge, anterior clinoid process, tuberculum sellae, or planum sphenoidale often impair vision by compressing the optic nerves and optic chiasm. Although many studies have reported visual outcome following surgery for these tumors, documentation has often been incomplete and not validated by patient self-report. Methods Retrospective study of 40 patients drawn from a single, academic, medical center. We used a unique method of assessing visual outcome based on whether the change in visual function affected the preoperatively better-sighted or worse-sighted eye in the belief that this method would correlate with effects on activities of daily living (ADL). To elicit patient self-reports of those effects, we conducted telephone interviews of 25 patients with a standard questionnaire. We also assessed putative ophthalmic, imaging, and surgical predictors of visual outcome. Results Visual improvement occurred in 61% of patients with preoperative monocular visual dysfunction, but only 22% of patients reported improvement in their ability to conduct ADL, and 17% lost vision. Visual outcomes were better in patients with preoperative binocular visual dysfunction, where visual improvement occurred in 73% and no patient lost vision in the preoperatively better-sighted eye. However, only 27% of patients with preoperative binocular visual dysfunction reported improvement in their ability to conduct ADL. Long duration of vision impairment, presence of optic disc pallor, large tumor size, and imaging-based preoperative optic canal involvement did not preclude a favorable visual outcome. Aggressive surgical reduction in displacement of the optic nerves was not necessary to obtain a favorable visual outcome and sometimes led to an unfavorable visual outcome. Conclusions In this study, surgery often improved vision, especially in patients with preoperative binocular visual dysfunction. But patients indicated that the effect on their ability to perform ADL was more modest. Moreover, 17% of patients with preoperative monocular visual dysfunction lost vision in the only affected eye, often to a considerable degree. In those patients, surgery would be justified primarily to relieve the concern of having a large brain tumor and to prevent tumor growth. Preoperative ophthalmic and imaging features poorly predicted visual outcomes. Favorable visual outcomes occurred without aggressive surgical debulking of the tumors.

Hemizygous pathogenic variants in CACNA1F lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in CACNA1F-retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed CACNA1F-retinopathy. Detailed ocular phenotypic data including distance and color vision, refraction and electroretinogram (ERG) were collected. Distance vision was universally reduced (mean: 0.42 LogMAR), six had abnormal color vision and myopia was common (n = 15, mean: −6.32 diopters). Mean GCL-IPL thickness was significantly lower in patients (55.00 µm) compared to age-matched controls (n = 87, 84.57 µm, p &lt, &lt, 0.001). The GCL-IPL thickness correlated with scotopic standard (p = 0.04) and bright-flash (p = 0.014) ERG b/a ratios and photopic b-wave amplitudes (p = 0.05). Twenty-one patients had some degree of disc pallor (bilateral in 19). Fifteen putative disease-causing, including five novel variants were identified. This study establishes macular inner retinal thinning and optic atrophy as characteristic features of CACNA1F-retinopathy, which are independent of myopia and could impact potential future treatment strategies.

Giant cell arteritis (GCA) in an autoimmune condition causing inflammation of the media of primarily large- and medium-sized arteries. It predominantly occurs in the elderly with increasing incidence with each decade after age 50. There are a number of ophthalmic symptoms including transient or persistent diplopia, transient or persistent vision loss, headache, eye pain, and photophobia. Ophthalmic signs include strabismus, optic disc pallor and edema from ischemic optic neuropathy, cotton wool spots, central retinal artery occlusion, and ocular ischemic syndrome manifesting such as retinal hemorrhages, neovascularization of the retina, angle, and iris, anterior uveitis, corneal edema, hypotony, and neovascular glaucoma. GCA has traditionally been treated with corticosteroids. Tocilizumab was approved in 2017 by the US FDA for treatment of GCA in conjunction with corticosteroids. However, ideal route and dose of corticosteroid initiation, and which patients benefit from the addition of tocilizumab and optimal timing for its initiation, are not well defined.

Objective To describe a case of Behçet disease (BD) uveitis manifesting with sequential bilateral neuroretinitis associated with prepapillary inflammatory vitreous exudate (PIVE). Material and methods A single case report documented with multimodal imaging. Results A 37-year-old man developed neuroretinitis with associated PIVE in the left eye. He was diagnosed with ocular toxoplasmosis and treated accordingly based on positive serologic testing and negative work-up for other entities, including BD. The disease course was favorable, but 1 year later a similar neuroretinitis developed in the right eye. Extraocular features of BD became evident only at the time of the second eye involvement, and the patient received corticosteroid and immunosuppressive therapy. Swept source (SS) OCT showed at the acute phase in both eyes a typical “mushroom-shaped” prepapillary hyperreflectivity of the PIVE. SS OCT angiography (OCTA) demonstrated a corresponding prepapillary hypointense area due to shadowing effect, decreasing in size while scanning deeper layers. It also detected peripapillary retinal hypervascularity in both eyes and a sectoral area of flow signal loss in the first involved left eye. Visual acuity improved following the resolution of the PIVE and associated acute inflammatory changes in both eyes. The left eye showed residual optic disc pallor and retinal nerve fiber layer defects. Conclusion Sequential bilateral neuroretinitis associated with PIVE may occur before other clinical features of BD become evident. SS OCT and OCTA can provide useful information for the diagnosis and management of this rare, but typical, ocular manifestation of BD uveitis.

Introduction: Pituitary adenomas comprise approximately 10% of all intracranial tumors. Initially, subtle changes occur in the field of vision, which are difficult to assess clinically. It has been seen that following surgery of pituitary macroadenoma, total recovery of normal vision occurs in 35% of the patients, improvement of vision occurs in 60%, and in the rest there is no change in vision. Retinal nerve fiber layer thickness (RNFLT) undergoes retrograde degeneration following compression of optic apparatus by pituitary tumor. We planned a study to evaluate RNFLT before and after pituitary adenoma surgery and its correlation with visual acuity. Material and Methods: Twenty patients (40 eyes) with diagnosed pituitary adenoma were included in the study. Preoperative visual acuity, fundus and RNFL thickness were calculated using spectral-domain OCT Optovue, Heidelberg Engineering, Heidelberg, Germany (RT 100 version 5.1), and postoperative measurement was done after 1 and 3 months. Four-quadrant mean of RNFLT was calculated. Results were tabulated and analyzed. Statistical Analysis: Results of the study were analyzed using IBM SPSS Statistics version 19.0. Results: There was no significant change in RNFLT after pituitary adenoma surgery, and it was found that patients with RNFLT within normal range preoperatively showed improvement in visual acuity after pituitary surgery. On the other hand, patients who had thinned-out RNFLT preoperatively showed no improvement in visual acuity. It was also found that once optic disc pallor sets due to chronic compression, then chances of its reversion to normal depend on its grading: only mild pallor disc has some chance to revert to normal, whereas moderate and severe pallor do not revert to normal. Conclusion: RNFLT and optic disc can be used as prognostic factors for evaluation of visual outcome in pituitary adenoma surgery.

A 68-year-old woman presented with profound vision loss of 2-month duration in the right eye and 1-week duration in her left eye. This occurred in the context of craniopharyngioma that was twice resected and irradiated (54 Gy in 30 fractions) 9 months before her presentation. Ophthalmological examination revealed hand motion vision in the right eye and light perception vision in the left eye with poorly reactive pupils and bilateral optic disc pallor. A non-contrast MRI of the brain and sella showed significant reduction of the sellar mass. A repeat MRI of the brain and orbits with gadolinium showed pre-chiasmatic enhancement of both optic nerves. The diagnosis of radiation-induced optic neuropathy was made. Despite treatment with high-dose intravenous corticosteroids, 19 sessions of hyperbaric oxygen therapy, and 3 doses of intravenous bevacizumab, her vision worsened to no light perception in both eyes.

Purpose Assessment of optic disc pallor in fundus photographs may be frequently misinterpreted due to the subjective nature of interpretation. We developed a fully automatic computer-aided detection (CAD) system for optic disc pallor using colour fundus photographs and evaluated the accuracy of the system. Methods A newly proposed CAD system was developed for automated segmentation and image analysis of optic disc pallor, and a logistic regression model was developed for risk analysis. A total of 230 photographs with variable degree of optic disc pallor, and 123 normal optic discs confirmed by optical coherence tomography were tested for validation of the software. Sensitivity and specificity of the CAD system in automatic detection of optic disc pallor using colour fundus photographs were evaluated. The results of manual detection of optic disc pallor on fundus photographs by two independent ophthalmologists were compared with the efficacy of the CAD system. Results The fully automated CAD system achieved a sensitivity of 95.3% and a specificity of 96.7% for detecting optic disc pallor in colour fundus images. The overall accuracy of the CAD system was 96.1%, which was superior to the results of manual detection by individual examiners. Conclusions We developed an automated CAD system that successfully detected optic disc pallor in fundus photographs. The proposed algorithm can assist the clinical judgement of ophthalmologists for detecting optic disc pallor in fundus photographs.

Background The early diagnosis of cancer is of crucial importance and a key prognostic factor. Cancer-associated retinopathy (CAR) can be symptomatic prior to other manifestations directly related to malignant tumors. The aim of this study was to show that, in selected cases, ophthalmic findings are consistent enough with the diagnosis of CAR to trigger investigations aimed at detecting a previously unknown malignancy. Methods This was a monocentric retrospective case series performed in a tertiary referral center. Patients with a diagnosis of CAR were included. Diagnosis was based on the clinical presentation, the visual field and electroretinogram alterations. The clinical presentation, visual field testing and electroretinographic results were analyzed as well as the malignancies identified following the diagnosis of CAR. Follow-up data was collected. Results Four patients (two men, two women, median age 65.5 years) were included. All patients presented with posterior segment inflammation at initial presentation as well as advanced visual field loss and an extinguished electroretinogram. The best corrected decimal visual acuity was 0.8 or better in both eyes of three patients and decreased to 0.3 OD and O.2 OS in one patient due to a bilateral macular edema. No patient had a previously known history of cancer. Once the diagnosis of CAR was made, investigations aimed at identifying a malignant tumors subsequently led to the diagnosis of two cases of small cell lung tumors, of one prostate carcinoma and of a uterine sarcoma. The treatment of CAR included plasmapheresis, systemic corticosteroids, azathioprine, cyclosporine and periocular or intraocular corticosteroid injections. In all cases the intraocular inflammation resolved, but pigment mottling, diffuse retinal atrophy, optic disc pallor and arterial narrowing were among manifestations observed during the follow-up of the patients. Conclusion In selected patients, findings suggestive of CAR can be useful for the early detection of a cancer. Electronic supplementary material The online version of this article (10.1186/s12886-018-0948-2) contains supplementary material, which is available to authorized users.

Background Sudden visual loss and optic disc edema caused by optic neuritis (ON) is usually followed by significant visual recovery. However, little or no recovery occurs when the loss is caused by atypical ON, especially in patients with neuromyelitis optica (NMO). Optic disc drusen (ODD) is a cause of pseudo optic disc edema and may be a predisposing factor for non-arteritic anterior ischemic optic neuropathy (NAION), thereby mimicking atypical ON. In such cases, if globular concretions are seen protruding from the disc substance, ODD may be suspected. The purpose of this paper is to describe two patients with acute visual loss followed by optic disc atrophy initially labeled as atypical ON. Though not suspected on clinical examination, optical coherence tomography (OCT) revealed deeply buried ODD as a predisposing factor for NAION. Case presentations Case 1: A 48-year-old woman had bilateral sequential visual loss associated with optic disc edema. Despite treatment, vision did not improve and severe disc pallor ensued. Atypical ON was suspected. Eventually, she was started on immunosuppressant therapy based on a tentative diagnosis of NMO-spectrum disorder. On examination 5 years later, only severe optic disc pallor was observed, but OCT radial B-scans showed ovoid hyporeflective areas in the retrolaminar region of both eyes, compatible with ODD; this led to a diagnosis of NAION and deeply buried ODD. Case 2. A 35-year-old woman with suspicion of ON in the left eye and a history of previous atypical ON in the right eye was referred for neuro-ophthalmic examination which revealed diffuse optic disc pallor and a dense arcuate visual field defect in the right eye. OCT B-scans passing through the disc showed large ovoid areas of reduced reflectivity in the retrolaminar region of the optic disc in the right eye. These findings helped confirm the diagnosis of NAION in one eye, with deeply buried ODD as predisposing factor. Conclusions Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON. Awareness of such occurrence is important to avoid unnecessary testing and minimize the risk of mismanagement.

A 53 year old male with leukemia presented with optic disc pallor, attenuated retinal vessels and peripheral visual field loss confirmed on formal testing. Anti-retinal antibodies were detected by immunohistochemistry confirming the diagnosis of cancer- associated retinopathy (CAR). Hematology continued systemic chemotherapy but did not recommend systemic immune suppression as a safe treatment for the paraneoplastic eye disease. The patient received a single injection in the more severely affected eye of intravitreal triamcinolone and had initial improvement then ultimately stabilization of the visual field loss and optic nerve pallor without any side effects from the intraocular steroid injection. This case demonstrates that intraocular corticosteroid can be a safe, efficacious, local treatment option for cancer associated retinopathy.

Autoimmune retinopathy (AIR) is a rare and still poorly understood immune-mediated disease that may cause inflammation from circulating autoantibodies against the retina. It may be related to history of autoimmune disease in the patient or in a family member or the presence of neoplastic disease in the individual. The disease may be subdivided into paraneoplastic and non-paraneoplastic AIR. When related to melanoma, it is referred to as MAR, and when related to other cancers, it is called CAR. The exact prevalence of AIR is unknown. It mainly affects older adults. Patients present with bilateral and asymmetric scotomas, photopsias, visual field defects, with rapidly progressive visual loss in late onset. In the initial stage, fundus examination is unremarkable, and in late stages, there is limited retinal epitheliopathy and vascular attenuation, with or without optic disc pallor, associated or not with intraocular inflammation and with no evidence of degenerative retinal disease. A clinical investigation with detailed anamnesis and laboratory tests should be performed to search for an associated neoplasm. Ophthalmologic and complementary examinations such as full-field electroretinogram, optical coherence tomography, visual field and fundus autofluorescence, help the diagnosis. Blood tests to search for autoantibodies should be requested. Management consists of prolonged immunosuppression, which may be combined with antioxidant vitamins. In general, the prognosis is uncertain, so the disease still needs to be better understood. More studies should be performed to improve diagnostic measures and define specific management that could preserve or even restore vision.

Background Toxic optic neuropathies (TONs) often present with a gradual and bilateral decrease in visual acuity, scotomas and optic disc pallor. Obtaining an accurate history is the critical first step in determining the etiology of TONs. Methods This updated review contains a thorough analysis of the current PubMed-indexed literature on the most common agents responsible for TONs, including methanol, ethambutol, amiodarone, linezolid, tumor necrosis factor alpha inhibitors and phosphodiesterase 5 inhibitors. Results The reviewed articles are mainly case reports presenting new and controversial aspects of the above agents. New treatment strategies, such as erythropoietin for methanol optic neuropathy, are being proposed for TONs, a condition that was previously regarded as untreatable. Conclusion TONs could cause significant disability due to visual impairment. In case of early diagnosis and drug withdrawal, most TONs are treatable. Patients need to be appropriately counseled, and prescribing physicians should be especially made aware of TON-inducing medications.

Intraocular coccidioidomycosis is a rare condition, with the most commonly reported presentation being an idiopathic iritis in patients who live in or have traveled thorough endemic areas. A paucity of reports exists describing the chorioretinal manifestations of coccidioidomycosis. Here we report a case of unilateral coccidioidal chorioretinitis and meningoencephalitis in an AIDS patient that led to near complete unilateral loss of vision. A 48-year-old Hispanic female with poorly controlled HIV/AIDS in southern California presented with a three-week history of headache, nausea, vomiting, right eye blurry vision, and a one-day history of subjective fever. Examination of the right eye revealed vitritis and several large chorioretinal lesions scattered throughout the periphery and macula with optic disc pallor. Serum coccidioidomycoses complement fixation (CF) was positive (titers of 1 : 256). Neuroimaging revealed a new area of enhancement in the left anterior frontal lobe consistent with meningoencephalitis. The patient was treated with intravenous fluconazole and intravitreal voriconazole with resolution of systemic symptoms and vitritis but persistence of unilateral, severe chorioretinal scarring and vision loss. In conclusion, in spite of the rarity of intraocular coccidioidomycosis, one must carry a degree of suspicion for this vision- and life-threatening condition as a potential etiology of chorioretinitis in individuals with pertinent risk factors.