OBJECTIVE: Neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorder (NMOSD) are autoimmune-mediated central nervous system disorders distinguished by the presence of serum aquaporine-4 IgG antibody (AQP4-Ab). The clinical panel comprises severe optic neuritis (ON) and transverse myelitis, which can result in incomplete recovery and a high risk of recurrence.
METHODS: This study aimed to evaluate the visual outcomes of three patients with severe acute ON in NMOSD that was non-responsive to intravenous methylprednisolone (IVMP), who received plasma exchange therapy (PLEX). We included three patients (P1, P2 and P3) with severe acute ON who had no improvement after IVMP treatment and were admitted to the ophthalmology department at the Emergency University Hospital Bucharest from January 2022 to September 2023. All three patients with ON were diagnosed in accordance with the criteria described by the Optic Neuritis Treatment Trial. All the subjects were experiencing their first attack.
RESULTS: The mean recruitment age was 35.3 ± 7.71. All patients were seropositive for the AQP4 antibody. All patients were tested for serum myelin oligodendrocyte glycoprotein (MOG) antibody but only one showed a positive test (P3). Lesions visible in orbital MRI indicated the involvement of retrobulbar, canalicular and/or intracranial segments. All three subjects had no response or incomplete remission after an IVMP protocol (5 days of 1000 mg intravenous methylprednisolone in sodium chloride 0.9%). The mean time from onset of optic neuritis to PLEX was 37.6 days. The PLEX treatment protocol comprised five cycles of plasma exchange treatment over 10 days, with a plasma exchange session every other day. An amount of 1 to 1.5 volumes of circulating plasma were dialyzed for 2-4 h. At 1 month after the completion of PLEX therapy, BCVA and VF parameters were improved in all three patients.
CONCLUSIONS: The treatment of ON remains subject to debate and is somewhat controversial. Plasma exchange must be considered as a rescue therapy when IVMP is insufficient for AQP4-ON patients. This study revealed that PLEX treatment effectively improves the visual outcomes of patients experiencing their first attack of severe acute isolated ON after high-dose IVMP treatment. This study suggests that PLEX may be associated with improved visual outcomes in NMOSD acute optic neuritis.

UNASSIGNED: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal drusenoid deposits. In a previous study, we reported the short-term beneficial effects of nanosecond laser treatment (2RT) on retinal function in DHRD. The aim of the present report was to describe the findings of a long-term follow-up of retinal structure/function in a small case series of patients with DHRD who underwent 2RT treatment.
UNASSIGNED: Three DHRD patients (case 1, male and cases 2 and 3, two sister females, age range 41-46) with EFEMP1 pathogenic variant (c.1033C>T; p.R345W) and drusenoid deposits at the posterior pole were examined at baseline and after 2RT treatment, at regular intervals (every 2-4 months) up to 30 months. All 3 patients underwent one or two treatment sessions in one or both eyes during the follow-up period. Case 3 was treated with only the left eye (LE). Each patient underwent a full ophthalmologic examination, spectral domain optical coherence tomography (OCT), central perimetry with frequency doubling technology, and mesopic and photopic Ganzfeld electroretinograms. Compared to baseline findings, during follow-up, visual acuity improved in both eyes in case 1 and LE in case 2, while it decreased in the right eye in case 2 and LE in case 3; perimetric sensitivity was stable in case 1 and improved in both eyes in cases 2 and 3; and electroretinogram amplitude improved in cases 1 and 2 and was stable in case 3 (both eyes). OCT central macular thickness and retinal structure were stable in all cases. None of the patients had treatment-related side effects.
UNASSIGNED: This is the first report showing that in a long-term follow-up, 2RT treatment in DHRD may improve or stabilize some retinal function parameters without significant structural changes.

Camurati-Engelmann disease (CED) causes bone pain, muscle weakness, and cranial nerve symptoms due to abnormal thickening of the long bones of the limbs and the cortex of the skull. The pathophysiology of CED is a gain-of-function variant of transforming growth factor beta 1 (TGFB1). The ophthalmological symptoms of CED are usually caused by increased intracranial pressure and optic canal stenosis. Here, we report the case of a patient in whom prednisolone was effective against papilledema caused by CED. In this case, when papilledema was observed in both fundi, the patient showed increased bone pain, fever, and elevated CRP and ALP levels. Brain magnetic resonance imaging (MRI) revealed a high short tau inversion recovery (STIR) signal in both optic nerves, suggesting edematous changes. Prednisolone ameliorated bone pain, fever, and papilledema, resulting in a slight improvement of the visual function of the right eye. Our results suggest that prednisolone may be effective in treating ophthalmologic symptoms in addition to bone pain in patients with CED.

Meningiomas are often reported to be sensitive to progesterone, but it is not clear how pregnancy and childbirth affect this. A 41-year-old woman experienced two pregnancies and two deliveries. During the first pregnancy, her right visual acuity was impaired, but it recovered after delivery. However, during the second pregnancy, the right visual acuity was impaired again and did not recover after the second delivery. The magnetic resonance imaging revealed a right optic nerve sheath meningioma (ONSM). Surgical resection of the intracranial extension of the tumor was performed to prevent tumor invasion of the left optic nerve and optic chiasm. Pathological examination diagnosed meningioma with positive immunostaining for progesterone receptor. The present study provided clinical features of ONSM associated with pregnancy. ONSM may present with increased tumor growth and impaired vision with pregnancy.

Blindness caused by embolization of fillers is a rare but catastrophic complication after cosmetic injection. Vision improvement is rarely reported among the various studies on potential clinical treatments. In this case, the patient suffered from ophthalmic artery occlusion with no light perception 48 h after hyaluronic acid injection. After two intra-arterial thrombolytic therapy sessions and traditional sequential therapy, ocular appearance was restored to normal, blood supply to the retina and visual function were improved, and visual acuity was restored to hand motion levels. Our results suggest that intra-arterial thrombolytic therapy with hyaluronidase and papaverine has a positive effect on hyaluronic acid-induced visual loss and is worthy of clinical promotion.

Ocular disorders constitute a major component of the non-motor symptoms of Parkinson\'s disease (PD). Blurry vision is commonly associated with PD, but often challenging to interpret. The clinical spectrum of blurred vision is broad, and finding the underlying aetiology can be challenging. An incomplete diagnosis impedes therapeutic successes. We report two persons with PD who both experienced blurry vision, but each with a different underlying pathology that called for specific ophthalmological and neurological treatments. In case 1, the blurry vision was presumably caused by strabismus and convergence insufficiency, while case 2 had blurry vision partly due to palinopsia, a higher order visual processing deficit. Adequate treatment improved vision in both cases. Neurologists should be aware of the different underlying causes of blurred vision, should master the basic therapeutic approaches, and know when to refer a patient to the ophthalmology department.

CHARGE syndrome is a rare genetic disorder associated with many ocular anomalies including amblyopia, strabismus and high refractive errors. It has been found that the visual acuity of patients with CHARGE syndrome is typically lower than 20/60. After reviewing the literature, there has been a lack of detailed information about the assessments of visual function. Thus, this case report illustrates the strategy plan to treat amblyopia and refractive correction for a young girl with CHARGE syndrome.

ABSTRACTIt is important to distinguish patients in a minimally conscious state (MCS) from patients in a vegetative state (VS) when assessing disorders of consciousness (DOC) as prognosis, selection of therapy, and drug treatment could differ accordingly. Clinical evaluation of a patient\'s eye movements, such as visual startle, visual fixation, and visual pursuit, provides valuable evidence but is often subject to misdiagnosis. To minimize such misdiagnosis caused by human judgment, a virtual reality (VR) technology-based quantitative assessment method with an eye-tracking system is proposed in this study. The new VR system presented 3 stimuli to 20 healthy participants, and visual response data were recorded to define valid responses to each stimulus. Further, the newly defined stimuli were presented to five chronic patients in VS, and the system classified three of them as showing visual fixations that could not be verified through clinical assessment beforehand. The proposed system, as verified through such experimentation, suggests quantitative and objective evaluation methods for examining three visual functions of patients with DOC.

A 31-year-old male with mild dizziness complained of cloudy vision in his right eye for 5 days. The visual acuity of both eyes was normal, while the visual contrast sensitivity of both eyes slightly reduced. Fundus examination showed the swollen and radial superficial hemorrhage of his both optic nerves. Brain MRI scan indicated a huge tumor in the right temporal lobe with clear boundary, close to the skull. The midline structure shifted to the left. Blood tests indicated no hyperlipidemia or lipid disorders. The patient then received tumor resection. The size of the tumor was 5.6 cm × 7.5 cm × 10.1 cm. Histology suggested many foam cell accumulations and the tumor was positive for CD34, CD99, Vimentin, β-Catenin and CD68, but negative for EMA, GFAP, IDH-1, Oliga-2, PR, S-100, and CD1a. Three months after surgery, MRI showed the midline structure was back to normal. The swollen and radial superficial hemorrhage of optic nerves had disappeared. The visual acuity and visual field remained normal.

Orbital metastases from cancers of various organs can arise via the hematogenous route, and many originate from breast, prostate, and lung cancers. Such metastatic orbital tumors may be diagnosed before the primary tumor. We have encountered a case of breast ductal carcinoma with neuroendocrine differentiation that metastasized to the orbit and responded to chemotherapy, with improvement in visual function.
A woman in her fifties visited our ophthalmology department with a chief complaint of foreign body sensation and exophthalmos in her right eye. An elastic soft mass was palpated from the lateral orbit to the temporal region. A systemic examination revealed breast cancer and a metastatic orbital tumor. Excisional biopsy of the breast revealed a diagnosis of invasive ductal carcinoma with neuroendocrine differentiation, and immunohistochemical examination was negative for cytokeratin 7, making the case unusual. Chemotherapy was remarkably effective, and the tumor size decreased, resulting in improvement of visual function. Her general condition and quality of life are still good at present. We searched the PubMed English language literature focusing on metastatic orbital tumors from breast cancer in which ocular symptoms had been the initial presenting sign. No previous reports have documented neuroendocrine differentiation or cytokeratin 7 expression in isolated orbital metastases from breast cancer. Although it is not possible to be certain from this case alone, we speculated that some such cases might involve cytokeratin 7-negative invasive breast cancer with neuroendocrine differentiation.
We have described our experience of a very rare case of cytokeratin 7 negative breast ductal carcinoma with neuroendocrine differentiation that metastasized to the orbit and formed a solitary giant tumor initially manifesting as ocular symptoms.