Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that can result in fatal end-stage renal disease, heart failure, and cerebro-occlusive events. Vague clinical symptoms and rarity often mean diagnosis and potential treatment is delayed. Ophthalmic findings in FD patients can be helpful in establishing an early diagnosis and timely treatment. Spectral domain optical coherence tomography (SD-OCT) imaging in FD patients shows hyper-reflective foci (HRF) in characteristic patterns within the inner retinal layers. We found that the HRF was localised in linear distributions at the deep and superficial borders of the retinal inner nuclear layer, likely reflecting anatomic vascular plexuses and FD-related sphingolipid deposition within the vessel walls. These results highlight the potential use of SD-OCT in FD and how it may aid diagnosis in undifferentiated patients, prognostication, and disease monitoring.

Sorsby macular dystrophy is an autosomal dominant disorder secondary to heterozygous mutations in the TIMP3 gene in 22q12. It begins with fine, pale, drusen-like deposits or confluent, faint yellow material or sheets beneath the retinal pigment epithelium, but it eventually progresses to either geographic atrophy with pigmentary clumps or scars due to the choroidal neovascular membrane around the fourth decade of life. We describe a patient who presented with a progressive loss of unilateral visual acuity, wrongly suggesting an infectious or inflammatory disease.

Serpiginous choroiditis is a rare cause of posterior uveitis, included in the spectrum of white dot syndromes. It occurs as a result of an autoimmune process but could be associated with infections such as tuberculosis (TB) (serpiginous-like choroiditis). Tubercular serpiginous-like choroiditis is more commonly reported in Southeast Asian countries than in Western countries. We report a case of an Indian male in his late 30s with bilateral grey-yellowish subretinal infiltrates at the level of choroid with active scalloped edges having a positive TB-QuantiFERON Gold test (Cellestis Limited, Carnegie, Australia), who responded well to the treatment of intravenous methylprednisolone and systemic steroids (given initially to control the acute inflammation) while on anti-tubercular (anti-TB) therapy. The lesions finally completely healed on the anti-TB therapy.

Hydroxychloroquine sulfate (Plaquenil®) is a disease-modifying anti-rheumatic drug (DMARD) utilized in the management of autoimmune diseases. While its immunomodulatory actions offer therapeutic benefits, a rare complication, hydroxychloroquine-induced retinal toxicity, poses a significant concern. We present the case of an 83-year-old patient with cutaneous lupus undergoing periodic hydroxychloroquine screening for eight years. Visual field changes consistent with retinal toxicity were observed. Chart review revealed subtle visual field depression two years prior. This highlights the importance of vigilance toward unexplained visual changes and subtle changes on ophthalmologic examination in hydroxychloroquine-treated patients. Our findings underscore the necessity of baseline and periodic ophthalmologic examinations with particular attention paid to visual field depression or deficit that might occur without macular changes. Additionally, we address the choice between red and white visual field testing. This case contributes to the understanding of hydroxychloroquine-induced retinal toxicity, emphasizing the importance of comprehensive ophthalmologic surveillance in long-term users.

OBJECTIVE: Torpedo maculopathy is an incidental, congenital retinal lesion. The typical clinical finding is a unilateral, symmetric, oval, hypopigmented lesion in the inferotemporal macula. In most cases, the lesion is along the horizontal raphe, is torpedo-shaped, and the nasal edge is directed into the foveola. The diagnosis is determined on the basis of its characteristic shape, localization and findings on optical coherence tomography (OCT). The etiology and pathogenesis of torpedo maculopathy is unclear, but it is believed to be a congenital defect of the retinal pigment epithelium (RPE). The aim of this publication is  highlight this diagnosis and to present an incidental finding of torpedo maculopathy in an adult patient.
METHODS: A 30-year-old female patient reported for a routine eye examination. Fundus examination of the right eye revealed an oval hypopigmented lesion with a size of 1 disk diameter inferotemporally from the fovea, which was followed by a satellite lesion in the same axis directed into the foveola. Based on OCT, OCT angiography, fundus autofluorescence, and the typical shape and location of the lesion, the patient was diagnosed with torpedo maculopathy in the right eye.
CONCLUSIONS: In general, torpedo maculopathy is an asymptomatic, congenital, benign retinal lesion, which is mostly diagnosed accidentally during a routine fundus examination. TM is non-progressive retinal finding with a minimal risk of deterioration of visual functions, which does not require any treatment. Nevertheless, due to the rare risk of a choroidal neovascular membrane, it is recommended to examine patients once a year. It is necessary to consider this diagnosis when a unilateral hypopigmented lesion is found inferotemporally from the fovea, and to distinguish it from chorioretinal atrophy, scar, vitelliform dystrophy, or other RPE lesions as part of the differential diagnosis.

Acute posterior multifocal placoid pigment epitheliopathy is a rare inflammatory chorioretinopathy, classified as a white dot syndrome, in which ischaemia of the choriocapillaris leads to atrophy of the external retinal layers, including the retinal pigment epithelium.A male patient in his 20s presented with sudden severe loss of vision in the left eye. Funduscopy revealed with yellow placoid lesions in the macula and near periphery. Spectral-domain optical coherence tomography and fluorescein angiography revealed the presence of central intraretinal fluid in the left eye and multiple areas of macular ischaemia bilaterally. Treatment with oral corticosteroids was initiated, and the anatomical changes, including the intraretinal fluid, improved steadily over the following weeks.Although rare, the presence of subretinal or intraretinal fluid should not decrease the suspicion of acute posterior multifocal placoid pigment epitheliopathy. Reabsorption of the fluid is usually accompanied by the improvement of the remaining anatomical changes and the visual function.

OBJECTIVE: To introduce a case report and review the literature on trauma-related acute macular neuroretinopathy as an unusual etiology of acute macular neuroretinopathy.
METHODS: A 24-year-old man presented with unilateral paracentral scotoma following non-ocular trauma in a car accident. The relative afferent pupillary defect was negative and the best corrected visual acuities of both eyes were 10/10 (by the Snellen chart scale).
RESULTS: Retinoscopy revealed a reduced foveal reflex, along with a small pre-retinal hemorrhage over the mid-pathway of the supranasal arteriole. OCT images showed an obvious ellipsoid zone (EZ) layer disruption in the macula of the left eye. The infrared fundus photograph of the same eye revealed a distinct hyporeflective area involving the macula. On fundus angiography, no macular vascular lesion was detected. The scotoma persisted after 3 months follow-up.
CONCLUSIONS: Non-ocular trauma including head or chest trauma without direct ocular injury accounts for most cases of trauma-related acute macular neuroretinopathy. It is important to distinguish this entity, given that there are also unremarkable findings in the retinal examination of these patients. Indeed, proper clinical suspicion leads to further suitable investigations and impedes other extraordinary images, which are the basic rules in the management of traumatic patients suffering multiple injuries and incurring medical expenses.

OBJECTIVE: This study seeks to report the clinical and multimodal imaging findings of eight eyes of seven patients with neovascular age-related macular degeneration (nAMD) who developed bacillary layer detachment (BALAD). Setting/Venue: The patients were analysed at the Western Eye Hospital in London, UK.
METHODS: The approaches of this research include clinical examinations and multimodal imaging-based description of cases of nAMD with BALAD.
RESULTS: We report multimodal imaging findings of bacillary layer detachment (BALAD) in patients with nAMD.
CONCLUSIONS: A bacillary layer detachment was detected in patients with neovascular age-related macular degeneration. This multimodal imaging finding is not commonly described in the literature for this disease.

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A man in his 20s presented with diminished vision in the left eye. He had a history of Pott\'s spine and had been diagnosed elsewhere as having left eye tubercular granuloma in the retina. He was started on anti-tubercular therapy and high-dose oral steroids. He presented to us 1 month later. Presently fundus examination revealed a yellow to whitish mass temporal to disc with diffuse hard exudates throughout the retina. Swept-source optical coherence tomography (SSOCT) revealed a hyper-reflective mass involving the retina. SSOCT angiography and fundus fluorescein angiography revealed vascularity within the lesion. We made a diagnosis of a secondary reactive retinal astrocytic vasoproliferative tumour (VPT) and hence tapered the steroids and given intravitreal bevacizumab injection. At 6 weeks follow-up after intravitreal bevacizumab, there was some amount of resolution of hard exudates along with reduction of the vascular pattern of the lesion. The peripapillary location and development of a VPT following resolution of a presumed tubercular granuloma is rare.