Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome

The aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice weekly who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 5 months old and genetically diagnosed with Blau syndrome with CARD15/NOD2 mutation (N670K) at 13 years old. At 10 years old, she began to have uveitis with optic disc swelling in both eyes, resulting in macular degeneration and optic disc atrophy at 17 years old only when etanercept was introduced. Case 2 was a 21-year-old man receiving adalimumab every 2 weeks who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 1.5 years old and genetically diagnosed as Blau syndrome with CARD15/NOD2 mutation (C495Y) at 5 years old. At 8 years old, around the time of adalimumab introduction, he began to show bilateral optic disc swelling which continued until the age of 16 years when the dose of adalimumab was increased. Case 3 was a 20-year-old woman receiving canakinumab every 8 weeks for systemic symptoms such as fever, headache, vomiting, and abdominal pain and later for sensorineural hearing disturbance on both sides. She had been diagnosed genetically with cryopyrin-associated periodic syndrome with NLRP3 mutation (Y859C) at 7 years old. At 5 years old, she was found to have bilateral optic disc swelling, which continued until the age of 10 years when she began receiving canakinumab (IL-1β inhibitor). Bilateral optic disc swelling might be tentatively designated as a plausible common ocular feature, if it occurred, in autoinflammatory diseases to pay more attention to ophthalmic complications in rare diseases.

Chronic neuroborreliosis with pseudotumor cerebri (clinical case, discussion)

The article describes a clinical case of chronic neuroborreliosis in form of cerebral pseudotumor syndrome in a 30-year-old patient. The patient complained of dizziness, double vision, decreased visual acuity in both eyes, a feeling of “fog before the eyes”, constant headache (7–8 points on a visual analog scale), sleep disturbances. During last summer (5–6 months before disease onset), there were repeated tick bites with skin redness, the patient did not seek medical help. The disease started 1.5 months ago in form of a headache; one month ago vision began to decrease and diplopia appeared. In the neurological status: left abductor nerve palsy. Brain MRI: empty sella turcica, flattening of the posterior scleras, optic nerves tortuosity. Ophthalmologist: visual acuity of the right eye — 0.3, left eye — 0.8, optic disc swelling of both eyes. Cerebrospinal fluid analysis: the pressure of 300 mm Hg (lumbar puncture in supine position), proteins — 0.198 g/l, cytosis — 5 in 1 ml (lymphocytes), anti-borreliosis IgG — 38.15 U/ml, IgM — 5.61 U/ml. Immediately after the lumbar puncture, the patient noted a significant reduction in headache and diplopia. Cerebrospinal fluid-serum index for anti-borreliosis IgG — 1.2. Diagnosis: chronic neuroborreliosis with cerebral pseudotumor syndrome, left abductor nerve palsy, and visual impairments. Treatment: ceftriaxone, rheosorbilact, citicoline, acetazolamide, melatonin, phenibut. The patient refused repeated lumbar punctures. During hospital treatment, the patient’s condition improved: headaches decreased (to 3–4 points on the visual analog scale), diplopia disappeared, left eyeball movements fully restored, optic disc swelling diminished. Three months later, the patient by phone reported no complaints except for vision impairments. Thus, in patients with cerebral pseudotumor syndrome, among the potential etiological factors Lyme disease should be also excluded.

Optic Nerve Head Microcirculation in Eyes with Vogt-Koyanagi-Harada Disease Accompanied by Anterior Ischemic Optic Neuropathy

Anterior ischemic optic neuropathy (AION) is infrequently complicated with Vogt-Koyanagi-Harada (VKH) disease. We quantitatively examined sequential changes in the morphology and circulation hemodynamics, using a C-scan of optical coherence tomography (OCT) and laser speckle flowgraphy (LSFG) in a patient with VKH disease accompanied by AION. A 65-year-old female complained of blurred vision in both of her eyes. The patient presented with optic disc swelling and remarkable choroidal thickening detected by OCT bilaterally. The diagnosis of VKH disease was established based on the presence of pleocytosis detected in the cerebrospinal fluid and hypofluorescent dark dots scattered all around the fundus, detected by indocyanine green angiography. Goldmann perimetry detected visual field defects, similar to superior altitudinal hemianopsia in the right eye and similar to inferior altitudinal hemianopsia in the left eye. The patient was suspected to have developed AION in both eyes. The patient received methylprednisolone pulse therapy, followed by oral prednisolone. With these treatments, the optic disc swelling disappeared. However, optic disc atrophy with visual field defects remained in both eyes. An OCT C-scan showed the ganglion cell complex (GCC) and circumpapillary retinal nerve fiber layer (cpRNFL) thickness getting thinner below the normal range, and LSFG showed the decrease in optic nerve head (ONH) tissue microcirculation. These results supported the occurrence of AION in this patient with VKH disease. The analysis of GCC and cpRNFL thickness and ONH microcirculation would be useful for supporting the occurrence of AION in a case of VKH disease.

Nonarteritic Anterior Ischemic Optic Neuropathy following COVID-19 Vaccination: Consequence or Coincidence

To report a patient with nonarteritic anterior ischemic optic neuropathy (NA-AION) occurring soon after the COVID-19 vaccination. A 55-year-old woman presented with a 4-day history of inferior visual field disturbance in the right eye 7 days after receiving the first dose of Pfizer-BioNTech COVID-19 vaccine. Examination revealed a best-corrected visual acuity of 20/20 in both eyes. A relative afferent pupillary defect was observed in the right eye. Fundoscopy revealed diffuse optic disc swelling in the right eye, which was prominent above the optic disc. Goldmann visual field testing identified an inferior altitudinal visual field defect with I/2 isopter in the right eye. Although typical complete inferior visual field defect was not detected, a diagnosis of NA-AION was made. The patient was followed without any treatment. During the 2-month follow-up period, the optic disc swelling was gradually improved, and visual acuity was maintained 20/20; however, the optic disc looked diffusely pale in the right eye. Although it is uncertain whether the development of NA-AION after COVID-19 vaccination was consequential or coincidental, we speculate that the close temporal relationship with COVID-19 vaccination suggests the possibility of vasculopathy on the microvascular network of optic nerve head as background of inflammatory or immune-mediated element to the timing of the onset of NA-AION. The aim of this case report is to present this biological plausibility and to elucidate potential ophthalmological complications.

Neurosyphilis Presenting with Optic Neuritis

The incidence of syphilis has greatly reduced in the severity of affected individuals due to the early treatment with antibiotics. However, due to the increase in the prevalence of human immunodeficiency virus (HIV) infection, it has also caused a concurrent rise in the number of neurosyphilis patients. Most common ocular manifestations include uveitis, interstitial keratitis, and vasculitis. A healthy 28-years old man presented with a progressive blurring of vision in the right eye for one month. It was his second episode. The first episode occurred 4 months back which resolved spontaneously without treatment. Vision in the right eye was 6/18. The pupil was dilated and the relative afferent pupillary defect was positive. Fundus examination showed a hyperemic swollen right optic disc with blurred margins and no macular fan or star. Vision, anterior segment, and fundus were normal in the left eye. After the investigations, he was diagnosed as a case of neurosyphilis with optic neuritis. He was treated with intravenous penicillin for two weeks followed by oral penicillin for three weeks. Vision in the right eye improved to 6/6; the optic disc swelling resolved with clear margins. He maintained good vision during the follow-up of six months. Early referral to an ophthalmologist upon suspicion of syphilis, detailed evaluation, and immediate treatment is mandatory to prevent permanent vision loss in these patients.

Occurrence and Risk Factors for Macular Edema in Patients with Juvenile Idiopathic Arthritis-Associated Uveitis

Purpose: To analyze occurrence and risk factors for macular edema (ME) in juvenile idiopathic arthritis-associated uveitis (JIA-U). Methods: Retrospective analysis of patients with JIA-U at a tertiary referral uveitis center between 2000 and 2019. Epidemiological data and clinical findings before ME onset were evaluated. Results: Out of 245 patients, ME developed in 41 (18%) of the 228 JIA-U patients for whom data documentation was complete during the follow-up (mean 4.0 ± 3.8 years). Risk factors (univariable logistic regression analysis) at baseline for subsequent ME onset included older age at initial documentation at institution (hazard ratio, HR 1.19, p < 0.0001), longer duration of uveitis at initial documentation (HR 1.17, p < 0.0001), worse best-corrected visual acuity (BCVA; HR 2.49, p < 0.0001), lower intraocular pressure (IOP; HR 0.88, p < 0.01), band keratopathy (HR 2.29, p < 0.01), posterior synechiae (HR 2.55, p < 0.01), epiretinal membrane formation (HR 6.19, p < 0.0001), optic disc swelling (HR 2.81, p < 0.01), and cataract (HR 4.24, p < 0.0001). Older age at initial documentation at institution (HR 1.55, p < 0.001), worse BCVA (HR 28.56, p < 0.001), and higher laser-flare photometry (LFM) values (HR 1.003, p = 0.01) were independent risk factors for ME manifestation. Patients with ME revealed significant changes in BCVA, LFM, and IOP and new optic disc swelling at 6 and 3 months before ME onset compared to timepoint of ME occurrence (p < 0.05, each). Conclusion: ME is a common complication of JIA-U. Demographic risk factors and courses of IOP, BCVA, and LFM may indicate patients at risk for ME onset.

Long-Term Clinical and Multimodal Imaging Findings in Patients with Disseminated Mycobacterium Chimaera Infection

Background: To analyze long-term ophthalmic clinical and multimodal imaging findings of disseminated Mycobacterium (M.) chimaera infection after cardiothoracic surgery among the Swiss Cohort. Methods: Systemic and multimodal ophthalmic imaging and clinical findings including rate of recurrence were reviewed and correlated to a previously proposed classification system of choroidal lesions and classification of ocular disease. Main Outcomes Measures: long-term clinical and multimodal ocular imaging findings of M. chimaera. Results: Twelve patients suffering from systemic infection from M. chimaera were included. Mean age at the first ophthalmic examination was 59 years (range from 48 to 66 years). Mean duration of the follow-up was 22.63 ± 17.8 months. All patients presented with bilateral chorioretinal lesions at baseline; 5 patients had additional signs, including optic disc swelling (2), choroidal neovascularization (1), retinal neovascularization (1) and cilioretinal vascular occlusion (1). Four recurrence events after discontinuation or adjustment of the antibiotic treatment were observed. Progressive choroiditis was seen in 5 patients under treatment, 4 of them deceased. Conclusions: Expertise from ophthalmologists is not only relevant but also critical for the assessment of the adverse drug effect of antimycobacterial treatment along with monitoring therapeutic response and identifying recurrences.

Bilateral Optic Disc Swelling with Preserved Visual Function Associated with Giant Cell Arteritis

A 68-year-old Japanese man was introduced to our hospital for optic disc swelling (ODS) in his both eyes (OU). Other than floaters in his right eye, he did not report any symptoms including blurred vision, visual field defect, and ocular pain. Light reflex was prompt and complete OU, and critical flicker frequency was within the normal range OU. By fluorescein angiography, hyperfluorescence was detected on optic discs OU; however, no fluorescein leakage or filling defect was observed. By Goldmann perimetry, enlargement of the Mariotte blind spot was revealed OU, while no central scotoma or remarkable visual field defects were detected. By neuroimaging and lumbar puncture, papilledema due to intracranial pressure elevation was denied. Based on the reassessment of fundus findings, narrowing and segmental whitening/sheathing of peripapillary vessels predominantly to arterioles were realized, and systemic arteritis was suspected. Based on the subject age, elevation of erythrocyte sedimentation rate, positron emission tomography findings in the aorta, and MRI findings in temporal arteries, underlying giant cell arteritis (GCA) was diagnosed. After the start of systemic and local steroid therapies, ODS improved OU. Although rare, bilateral ODS with no visual disturbance can occur in patients with GCA. This case emphasizes the importance of careful assessment of ocular findings to reach the correct diagnosis of even a rare cause of ODS.

Re-evaluating diabetic papillopathy using optical coherence tomography and inner retinal sublayer analysis

Background/Objectives To re-evaluate diabetic papillopathy using optical coherence tomography (OCT) for quantitative analysis of the peripapillary retinal nerve fibre layer (pRNFL), macular ganglion cell layer (mGCL) and inner nuclear layer (mINL) thickness. Subjects/Methods In this retrospective observational case series between June 2008 and July 2019 at Moorfields Eye hospital, 24 eyes of 22 patients with diabetes and optic disc swelling with confirmed diagnosis of NAION or diabetic papillopathy by neuro-ophthalmological assessment were included for evaluation of the pRNFL, mGCL and mINL thicknesses after resolution of optic disc swelling. Results The mean age of included patients was 56.5 (standard deviation (SD) ± 14.85) years with a mean follow-up duration of 216 days. Thinning of pRNFL (mean: 66.26, SD ± 31.80 µm) and mGCL (mean volume: 0.27 mm3, SD ± 0.09) were observed in either group during follow-up, the mINL volume showed no thinning with 0.39 ± 0.05 mm3. The mean decrease in visual acuity was 4.13 (SD ± 14.27) ETDRS letters with a strong correlation between mGCL thickness and visual acuity (rho 0.74, p < 0.001). Conclusion After resolution of acute optic disc swelling, atrophy of pRNFL and mGCL became apparent in all cases of diabetic papillopathy and diabetic NAION, with preservation of mINL volumes. Analysis of OCT did not provide a clear diagnostic distinction between both entities. We suggest a diagnostic overlay with the degree of pRNFL and mGCL atrophy of prognostic relevance for poor visual acuity independent of the semantics of terminology.