Longitudinal changes in optic disc cupping from the baseline in chiasmal lesion optic neuropathy and glaucoma.

We aimed to investigate the changes in cupping in chiasmal lesion optic neuropathy (chON) compared to baseline optic disc and glaucoma. We used a novel study design to enroll patients who had fundus photographs incidentally taken during routine health check-ups prior to the onset of optic neuropathy. In 31 eyes (21 patients) with chON and 33 eyes (30 patients) with glaucoma, we investigated the change in cup-to-disc (C/D) area from the baseline to overt cupping using flicker analysis. Compared to the baseline, 23 eyes (74.2%) had increased cup size and 3 (9.7%) had vascular configuration changes in the chONgroup; in contrast, all glaucoma eyes exhibited changes in cup size and vascular configuration. The increase in C/D area ratio was significantly smaller in chON (0.04 ± 0.04) compared to glaucoma (0.10 ± 0.04, P < 0.001); the minimum residual neuroretinal rim width showed a more pronounced difference (29.7 ± 8.2% vs 7.1 ± 3.9%, P < 0.001). The changes distributed predominantly towards the nasal direction in chON, contrasting the changes to the arcuate fibers in glaucoma. In conclusion, our results provide the first longitudinal evidence of true pathological cupping in chONcompared to photographically disease-free baseline. The marked difference in the residual minimum rim width reaffirms the importance of rim obliteration in the differential diagnosis between the two diseases.

Using generative AI to investigate medical imagery models and datasets.

BACKGROUND: AI models have shown promise in performing many medical imaging tasks. However, our ability to explain what signals these models have learned is severely lacking. Explanations are needed in order to increase the trust of doctors in AI-based models, especially in domains where AI prediction capabilities surpass those of humans. Moreover, such explanations could enable novel scientific discovery by uncovering signals in the data that aren't yet known to experts. METHODS: In this paper, we present a workflow for generating hypotheses to understand which visual signals in images are correlated with a classification model's predictions for a given task. This approach leverages an automatic visual explanation algorithm followed by interdisciplinary expert review. We propose the following 4 steps: (i) Train a classifier to perform a given task to assess whether the imagery indeed contains signals relevant to the task; (ii) Train a StyleGAN-based image generator with an architecture that enables guidance by the classifier ("StylEx"); (iii) Automatically detect, extract, and visualize the top visual attributes that the classifier is sensitive towards. For visualization, we independently modify each of these attributes to generate counterfactual visualizations for a set of images (i.e., what the image would look like with the attribute increased or decreased); (iv) Formulate hypotheses for the underlying mechanisms, to stimulate future research. Specifically, present the discovered attributes and corresponding counterfactual visualizations to an interdisciplinary panel of experts so that hypotheses can account for social and structural determinants of health (e.g., whether the attributes correspond to known patho-physiological or socio-cultural phenomena, or could be novel discoveries). FINDINGS: To demonstrate the broad applicability of our approach, we present results on eight prediction tasks across three medical imaging modalities-retinal fundus photographs, external eye photographs, and chest radiographs. We showcase examples where many of the automatically-learned attributes clearly capture clinically known features (e.g., types of cataract, enlarged heart), and demonstrate automatically-learned confounders that arise from factors beyond physiological mechanisms (e.g., chest X-ray underexposure is correlated with the classifier predicting abnormality, and eye makeup is correlated with the classifier predicting low hemoglobin levels). We further show that our method reveals a number of physiologically plausible, previously-unknown attributes based on the literature (e.g., differences in the fundus associated with self-reported sex, which were previously unknown). INTERPRETATION: Our approach enables hypotheses generation via attribute visualizations and has the potential to enable researchers to better understand, improve their assessment, and extract new knowledge from AI-based models, as well as debug and design better datasets. Though not designed to infer causality, importantly, we highlight that attributes generated by our framework can capture phenomena beyond physiology or pathophysiology, reflecting the real world nature of healthcare delivery and socio-cultural factors, and hence interdisciplinary perspectives are critical in these investigations. Finally, we will release code to help researchers train their own StylEx models and analyze their predictive tasks of interest, and use the methodology presented in this paper for responsible interpretation of the revealed attributes. FUNDING: Google.

Indocyanine green-enhanced transpupillary thermotherapy for juxtapapillary retinal capillary hemangioblastoma.

PURPOSE: To study the clinical presentation and treatment outcomes of indocyanine green-enhanced transpupillary thermotherapy (ICG-TTT) for treatment-naïve juxtapapillary retinal capillary hemangioblastoma (JRCH). METHODS: A prospective interventional case series. The technique involved ICG dye infusion 45 seconds prior to application of TTT. The main study outcomes were local tumor control, resolution of subretinal fluid (SRF), and improvement in best-corrected visual acuity (BCVA). RESULTS: Eight eyes of seven patients (5 males and 2 females) were included. The mean age was 26 years (range: 5-56 years). Systemic evaluation revealed von-Hippel Lindau (VHL) disease in five patients. The most common location was the temporal aspect of the optic disc (5 eyes). The mean basal diameter was 2.9 mm (range: 1-8 mm), and tumor thickness was 1.4 mm (range: 1-4 mm). All eight eyes were treated with multiple sessions of ICG-TTT (mean: 3 sessions). Six eyes received adjuvant intravitreal injection of dexamethasone implant (4 eyes) and/or bevacizumab (4 eyes). Post treatment, six eyes (75%) had tumor regression with reduction of SRF. One eye had a partial response with persisting SRF, and one eye showed poor response to TTT for which external beam radiotherapy was performed. At the last follow-up (median: 11 months; range: 6-29 months), the BCVA remained stable in seven eyes and improved in one eye (hand motion to 20/40). CONCLUSION: Multiple ICG-TTT sessions can be considered as an alternative treatment option for JRCH with effective local tumor control and SRF resolution.

Case Report: An Unusual Presentation of Leber's Hereditary Optic Neuropathy.

SIGNIFICANCE: Leber's hereditary optic neuropathy (LHON) is often associated with onset in the young, adult male demographic. This case report serves as a reminder that it can affect both sexes with onset into middle age. PURPOSE: Leber's hereditary optic neuropathy is a maternally inherited mitochondrial disorder that typically affects men during young adulthood. It presents with a rapid, yet painless loss of vision, with the fellow eye often affected within a few months. The optic neuropathy causes a dense central scotoma with visual acuities reduced to less than 20/400. CASE REPORT: A 60-year-old White woman presented with reports of decreased vision in both eyes for the previous 2 months. She had been followed up for the previous 5 years for glaucoma suspect monitoring, with full fields and normal optical coherence tomography scans. Entering visual acuity was finger counting at 1 m in the right eye and 20/100 in the left eye. Pupil testing revealed a grade 1 relative afferent pupillary defect in the right eye. Dilated fundus examination revealed stable moderate optic nerve cupping and intact neuroretinal rim tissue. Humphrey 24-2 Swedish Interactive Thresholding Algorithm standard visual field testing showed a significant superior altitudinal defect and inferior paracentral defect in the right eye and a partial superior arcuate in the left eye. The result of the MRI with contrast of the head and orbits was normal. A history of alcoholism was elicited, and LHON testing revealed positive 11778 mutation at homoplasmy. CONCLUSIONS: Although still uncommon, presentation of LHON in a middle-aged woman is possible and should be considered a viable differential diagnosis when individuals present with painless vision loss and central/centrocecal scotomas.

Diabetic retinopathy screening and treatment through the Brazilian National Health Insurance.

The current study aimed to investigate diabetic retinopathy (DR) screening and treatment coverages among diabetic patients evaluated through the Brazilian National Health Insurance from 2014 to 2019. The Brazilian Public Health System Information Database was used as the primary data source. DR screening coverage was calculated as the rate of procedures of clinical dilated fundus exam and color fundus photograph over the number of diabetic patients. DR treatment coverage was calculated as the rate of procedures of intravitreal injection, photocoagulation, and panretinal photocoagulation over the number of diabetic patients presumably in need of DR treatment. The overall screening coverage increased from 12.1% in 2014 to 21.2% in 2019 (p < 0.001) with substantial regional discrepancies so that North region was the only one with no changes along the period. The overall treatment coverage increased from 27.7% in 2014 to 44.1% in 2019, with Southeast and Midwest absorbing the demand for service from the North, Northeast and South. Despite an improvement along the past years, both screening and treatment coverages for DR in diabetes patients are ineffective in Brazil. Public health policies should address resources disparities throughout the country aiming to offer same healthcare conditions to patients regardless their geographic location.

Utilizing human intelligence in artificial intelligence for detecting glaucomatous fundus images using human-in-the-loop machine learning.

Purpose: For diagnosing glaucomatous damage, we have employed a novel convolutional neural network (CNN) from TrueColor confocal fundus images to conquer the black box dilemma in artificial intelligence (AI). This neural network with CNN architecture with human-in-the-loop (HITL) data annotation helps not only in diagnosing glaucoma but also in predicting and locating detailed signs in the glaucomatous fundus, such as splinter hemorrhages, glaucomatous optic atrophy, vertical glaucomatous cupping, peripapillary atrophy, and retinal nerve fiber layer (RNFL) defect. Methods: The training was done on a well-curated private dataset of 1,400 high-resolution confocal fundus images, out of which 1,120 images (80%) were used exclusively for training and 280 images (20%) were used exclusively for testing. A custom trained You Only Look Once version 5 (YOLOv5)-based object detection methodology was used to identify the underlying conditions precisely. Twenty-six predefined medical conditions were annotated by a team of humans (comprising two glaucoma specialists and two optometrists) by using the Microsoft Visual Object Tagging Tool (VoTT) tool. The 280 testing images were split into three groups (90,100, and 90 images) for three test runs done once every 15 days. Results: Test results showed consistent increments in the accuracy, from 94.44% to 98.89%, in predicting the glaucoma diagnosis along with the detailed signs of the glaucomatous fundus. Conclusion: Utilizing human intelligence in AI for detecting glaucomatous fundus images by using HITL machine learning has never been reported in the literature before. This AI model not only has good sensitivity and specificity in accurate glaucoma predictions but is also an explainable AI, thus overcoming the black box dilemma.

Diagnosing glaucoma on imbalanced data with self-ensemble dual-curriculum learning.

Glaucoma diagnosis often suffers from two types of data imbalances: 1) class imbalance, i.e., the non-glaucoma majority cases occupy most of the data; 2) rare cases, i.e., few cases present the uncommon retinopathy e.g., bayoneting or physiologic cupping. This dual-imbalances make glaucoma diagnosis model easy to be dominated by the majority cases but cannot correctly classify the minority and/or rare ones. In this paper, we propose an adaptive re-balancing strategy in the feature space, Self-Ensemble Dual-Curriculum learning (SEDC), to improve the glaucoma diagnosis on imbalanced data by augmenting feature distribution with feature distilling and feature re-weighting. Firstly, the self-ensembling (SEL) is developed to reinforce the discriminative ability of feature representations for the minority class and rare cases by distilling the features learned from the abundant majority cases. Secondly, the dual-curriculum (DCL) is designed to adaptively re-weight the imbalanced data in the feature space to learn a balanced decision function for accurate glaucoma diagnosis. Benefiting from feature distilling and re-weighting, the proposed SEDC fairly represents fundus images, regardless of the majority or rare cases, by augmenting the feature distribution to obtains the optimal decision boundary for accurate glaucoma diagnosis on the imbalanced dataset. Experimental results on three challenging glaucoma datasets show that our SEDC successfully delivers accurate glaucoma diagnosis by the adaptive re-balancing strategy, with the average mean value of Accuracy 0.9712, Sensitivity 0.9520, Specificity 0.9816, AUC 0.9928, F2-score 0.9547. Ablation and comparison studies demonstrate that our method outperforms state-of-the-art methods and traditional re-balancing strategies. The experiment also shows that the adaptive re-balancing strategy proposed in our method provides a more effective training approach with optimal convergence performance. It endows our SEDC a great advantage to handle the disease diagnosis on imbalanced data distribution.

VITAMIN A DEFICIENCY MONITORED BY QUANTITATIVE SHORT WAVELENGTH FUNDUS AUTOFLUORESCENCE IN A CASE OF BARIATRIC SURGERY.

BACKGROUND/PURPOSE: Bariatric surgery is recognized as a treatment option for obesity. However, the cost-efficiency of screening for serum vitamin A and the effectiveness of its oral supplementation in these patients remain unclear. Here, we report a case in which vitamin A and carotenoid deficiency after bariatric surgery were monitored by noninvasive quantitative fundus autofluorescence imaging. METHODS: Case report. RESULTS: A 62-year-old man presented with a history of progressive night blindness. He had duodenal switch surgery 13 years earlier. One year before the initial visit, he had begun oral supplements of vitamins A. Short wavelength fundus autofluorescence images acquired for quantitative fundus autofluorescence revealed an intensity that was lower than the healthy-eye range. Scotopic rod-specific full-field electroretinograms were extinguished. These findings were consistent with vitamin A deficiency. The patient was given intramuscular vitamin A injections. At follow-up, quantitative fundus autofluorescence improved, ERG increased to normal, but macular pigment was unchanged. CONCLUSION: Oral vitamin A supplementation may not be sufficient after mal-absorptive surgery and a quantitative and noninvasive short wavelength fundus autofluorescence imaging technique may be useful to monitor the status of vitamin A and the carotenoids comprising macular pigment in the retina.

Welcoming teleretinography into diabetes integrated care.

Integrated Care (IC) is a perfect fit for people with diabetes. Fundus examination (FE) is a disease marker for diabetologists and identifies potentially blinding complications (Diabetic Retinopathy, DR). In our Diabetes Clinic (DC) in Pescara, Italy, FE is possibly provided with telemedicine in same day as other exams, avoiding it to be a standalone clinical one; images taken with a retinal digital camera are graded by a remote ophthalmologist within a shared Electronic Health Record (EHR), immediately readable by other stakeholders; a dedicated care path to the Eye Clinic, University of Chieti-Pescara is provided for urgent cases. Personnel's worktime shortening allows gaining time for ophthalmologists' eye examinations in outpatient settings and other stakeholders' work in the DC. The need for a DR digital screening system is growing worldwide: our experience confirms the ease of implementation, and the advantage of sharing clinical data with all stakeholders when working within an EHR, aiming to optimize an IC effective system.

Artificial Intelligence-Based Diagnosis of Diabetes Mellitus: Combining Fundus Photography with Traditional Chinese Medicine Diagnostic Methodology.

In this study, we propose a technique for diagnosing both type 1 and type 2 diabetes in a quick, noninvasive way by using equipment that is easy to transport. Diabetes mellitus is a chronic disease that affects public health globally. Although diabetes mellitus can be accurately diagnosed using conventional methods, these methods require the collection of data in a clinical setting and are unlikely to be feasible in areas with few medical resources. This technique combines an analysis of fundus photography of the physical and physiological features of the patient, namely, the tongue and the pulse, which are used in Traditional Chinese Medicine. A random forest algorithm was used to analyze the data, and the accuracy, precision, recall, and F1 scores for the correct classification of diabetes were 0.85, 0.89, 0.67, and 0.76, respectively. The proposed technique for diabetes diagnosis offers a new approach to the diagnosis of diabetes, in that it may be convenient in regions that lack medical resources, where the early detection of diabetes is difficult to achieve.

A combined convolutional and recurrent neural network for enhanced glaucoma detection.

Glaucoma, a leading cause of blindness, is a multifaceted disease with several patho-physiological features manifesting in single fundus images (e.g., optic nerve cupping) as well as fundus videos (e.g., vascular pulsatility index). Current convolutional neural networks (CNNs) developed to detect glaucoma are all based on spatial features embedded in an image. We developed a combined CNN and recurrent neural network (RNN) that not only extracts the spatial features in a fundus image but also the temporal features embedded in a fundus video (i.e., sequential images). A total of 1810 fundus images and 295 fundus videos were used to train a CNN and a combined CNN and Long Short-Term Memory RNN. The combined CNN/RNN model reached an average F-measure of 96.2% in separating glaucoma from healthy eyes. In contrast, the base CNN model reached an average F-measure of only 79.2%. This proof-of-concept study demonstrates that extracting spatial and temporal features from fundus videos using a combined CNN and RNN, can markedly enhance the accuracy of glaucoma detection.

CENTRAL SEROUS CHORIORETINOPATHY ASSOCIATED WITH STEROID ENEMA.

BACKGROUND/PURPOSE: To report a case of acute recurrent central serous chorioretinopathy that developed after a regimen of corticosteroid enemas and suppositories. METHODS: Observational case report. Fluorescein angiography and spectral domain optical coherence tomography. RESULTS: A 47-year-old male patient with ulcerative colitis managed through hydrocortisone enemas presented to clinic with a 1-day history of blurry vision of his left eye. Posterior segment examination revealed subretinal fluid in the superotemporal macula of the left eye extending centrally. After diagnosis of acute central serous chorioretinopathy, the patient was advised to taper steroid enemas and his visual symptoms and subretinal fluid resolved within the month. Seven years later, several months after using steroid suppositories for the first time since the original central serous chorioretinopathy episode, asymptomatic subretinal fluid accumulation with foveal sparing was found on routine ophthalmic examination. Three months later, most of this fluid had resolved with minimal residual subretinal fluid on clinical examination. CONCLUSION: Acute central serous chorioretinopathy may develop after corticosteroid enema or suppository use, a route of administration that has not been previously reported in association with the disease.

Glaucoma Detection from Raw SD-OCT Volumes: A Novel Approach Focused on Spatial Dependencies.

BACKGROUND AND OBJECTIVE: Glaucoma is the leading cause of blindness worldwide. Many studies based on fundus image and optical coherence tomography (OCT) imaging have been developed in the literature to help ophthalmologists through artificial-intelligence techniques. Currently, 3D spectral-domain optical coherence tomography (SD-OCT) samples have become more important since they could enclose promising information for glaucoma detection. To analyse the hidden knowledge of the 3D scans for glaucoma detection, we have proposed, for the first time, a deep-learning methodology based on leveraging the spatial dependencies of the features extracted from the B-scans. METHODS: The experiments were performed on a database composed of 176 healthy and 144 glaucomatous SD-OCT volumes centred on the optic nerve head (ONH). The proposed methodology consists of two well-differentiated training stages: a slide-level feature extractor and a volume-based predictive model. The slide-level discriminator is characterised by two new, residual and attention, convolutional modules which are combined via skip-connections with other fine-tuned architectures. Regarding the second stage, we first carried out a data-volume conditioning before extracting the features from the slides of the SD-OCT volumes. Then, Long Short-Term Memory (LSTM) networks were used to combine the recurrent dependencies embedded in the latent space to provide a holistic feature vector, which was generated by the proposed sequential-weighting module (SWM). RESULTS: The feature extractor reports AUC values higher than 0.93 both in the primary and external test sets. Otherwise, the proposed end-to-end system based on a combination of CNN and LSTM networks achieves an AUC of 0.8847 in the prediction stage, which outperforms other state-of-the-art approaches intended for glaucoma detection. Additionally, Class Activation Maps (CAMs) were computed to highlight the most interesting regions per B-scan when discerning between healthy and glaucomatous eyes from raw SD-OCT volumes. CONCLUSIONS: The proposed model is able to extract the features from the B-scans of the volumes and combine the information of the latent space to perform a volume-level glaucoma prediction. Our model, which combines residual and attention blocks with a sequential weighting module to refine the LSTM outputs, surpass the results achieved from current state-of-the-art methods focused on 3D deep-learning architectures.

Longitudinal Screening for Diabetic Retinopathy in a Nationwide Screening Program: Comparing Deep Learning and Human Graders.

OBJECTIVE: To evaluate diabetic retinopathy (DR) screening via deep learning (DL) and trained human graders (HG) in a longitudinal cohort, as case spectrum shifts based on treatment referral and new-onset DR. METHODS: We randomly selected patients with diabetes screened twice, two years apart within a nationwide screening program. The reference standard was established via adjudication by retina specialists. Each patient's color fundus photographs were graded, and a patient was considered as having sight-threatening DR (STDR) if the worse eye had severe nonproliferative DR, proliferative DR, or diabetic macular edema. We compared DR screening via two modalities: DL and HG. For each modality, we simulated treatment referral by excluding patients with detected STDR from the second screening using that modality. RESULTS: There were 5,738 patients (12.3% STDR) in the first screening. DL and HG captured different numbers of STDR cases, and after simulated referral and excluding ungradable cases, 4,148 and 4,263 patients remained in the second screening, respectively. The STDR prevalence at the second screening was 5.1% and 6.8% for DL- and HG-based screening, respectively. Along with the prevalence decrease, the sensitivity for both modalities decreased from the first to the second screening (DL: from 95% to 90%, p = 0.008; HG: from 74% to 57%, p < 0.001). At both the first and second screenings, the rate of false negatives for the DL was a fifth that of HG (0.5-0.6% vs. 2.9-3.2%). CONCLUSION: On 2-year longitudinal follow-up of a DR screening cohort, STDR prevalence decreased for both DL- and HG-based screening. Follow-up screenings in longitudinal DR screening can be more difficult and induce lower sensitivity for both DL and HG, though the false negative rate was substantially lower for DL. Our data may be useful for health-economics analyses of longitudinal screening settings.

Iodine-Induced Retinopathy: A Case Report

Potassium iodide is used as an iodine supplement in salt as part of a national program in Turkey. An overdose of iodine has a toxic effect on the retinal pigment epithelium and photoreceptors. The case presented here is a patient who developed retinopathy following consumption of an excessive dose of iodine.

Single-stage superior oblique tendon recession with suture adjustment under topical anesthesia and sedation for A-pattern strabismus with superior oblique overaction.

PURPOSE: To assess the surgical effect of single-stage superior oblique recession with intraoperative suture adjustment under topical anesthesia and sedation in terms of A-pattern correction, vertical alignment, and superior oblique overaction. METHODS: The medical records of patients who underwent superior oblique weakening (recession with adjustable suture) for superior oblique overaction from 2015 to 2018 were reviewed retrospectively. Preoperative, pre- and postadjustment, and 6-week follow-up data were assessed and compared for A pattern, primary position hypertropia, superior oblique overaction scale and objective fundus torsion. RESULTS: A total of 29 patients (17-42 years of age) were included. Of 51 operated eyes, 37 underwent intraoperative adjustment (further recession of 1-4 mm) after superior oblique recession of 8 mm. Mean decrease in primary position hyperdeviation after adjustment was 3.6Δ ± 2.7Δ (range, 0Δ-8Δ); in A-pattern deviation, 5.5Δ ± 4.8Δ (range, 0Δ-16Δ). At 6 weeks' follow-up, A pattern had either resolved completely or became clinically insignificant (<10Δ) in 23 of 29 patients (79%); 24 (83%) patients had hyperdeviation in primary position of ≤5Δ. Of the 5 patients with preoperative primary position hyperdeviation of 15Δ-30Δ, 2 had residual primary position hyperdeviation of >10Δ. CONCLUSIONS: In our study cohort, single-stage, unilateral superior oblique tendon recession with adjustable suture under topical anesthesia and sedation was well tolerated and resulted in good postoperative outcomes at 6 weeks' follow-up, effectively correcting primary position vertical deviation of <15Δ.

Clinical observation of Dan-Hong Hua-Yu oral solution in treating retinal vein occlusion.

INTRODUCTION: Retinal vein occlusion refers to diseases with decreased vision, dilated tortuous retinal veins visible on the fundus, and retinal hemorrhage, edema, and osmosis distributed along the vein. There is still no ideal intervention to treat central retinal vein occlusion. This study plan to observe the efficacy of Dan-Hong Hua-Yu oral solution in treating non-ischemic retinal vein occlusion, in order to provide new treatment ideas. METHODS/DESIGN: We plan to use random number table method, 64 cases of non-ischemic central retinal vein occlusion that meet the inclusion criteria will be randomly divided into a treatment group and a control group. The intervention group will be treated with Dan-Hong Hua-Yu oral solution according to the syndrome differentiation of Traditional Chinese medicine and the patient's fundus condition. Each group will take 4 weeks as a course of treatment and three consecutive courses of treatment without any interval during the course of treatment. Changes of visual acuity, fundus performance, and total clinical symptoms of patients before and after treatment will be observed. DISCUSSION: This study will observe the efficacy of Dan-Hong Hua-Yu oral solution in the treatment of non-ischemic central retinal vein occlusion, with a view to providing new treatment ideas. TRIAL REGISTRATION: ClinicalTrials.gov, ChiCTR2000030625, Registered on March 08, 2020.

Pseudoduplication of the optic disc initially resembling a bifurcated optic nerve in a strabismus child: a case report.

BACKGROUND: Pseudoduplication of the optic disc is a rare clinical condition that is characterized by a circumscribed, disc-like lesion with radiating vessels but only one normal optic nerve. We report a rare case that initially resembled a bifurcated optic nerve in a strabismus child. CASE PRESENTATION: A 6-year-old female child was initially referred to our hospital due to perceptual exotropia of 15 degrees with poor fixation of the left eye. The visual acuity of the left eye was 3/100 with a refraction of + 1.75/- 1.25 × 175. Fundus images of her left eye revealed a circumscribed and disc-like lesion located one disc diameter (DD) below the true optic disc that showed profound central cupping resembling a second optic disc with a vascular supply. B scan ultrasonography showed an optic nerve with a bifurcated weak-echo region, suggesting that two strands originated from the optic nerve. Optic coherence tomography (OCT) demonstrated a large crater-like depression of the lesion, indicating a colobomatous defect covered by a mysterious membranous structure, a disturbed nerve fibre layer and the absence of regular outer retinal layers. A perimetric examination revealed a relatively superior defect. Magnetic resonance imaging (MRI) revealed the left eye globe showed an abnormal morphology and that the optic nerve was abnormally shaped and shifted nasally in the left eye. Fundus fluorescein angiography (FFA) of the left eye revealed the absence of independent vascular vessels in the disc-like lesion. Hyperfluorescence with patchy fluorescence was evident in the inferotemporal area of the disc. Vascular loops surrounding the temporal region were evident in both eyes. Her right eye was normal except for the vascular loop. We proposed that this represented a case of pseudoduplication of the optic disc. The patient did not undergo any treatment, and her visual acuity remained stable during the follow-up period. CONCLUSIONS: Our patient presented with a deep and ectatic coloboma below the optic disc that communicated with the true optic nerve and was originally thought to indicate a bifurcated optic nerve. This case suggests that atypical ectatic colobomas should be considered before diagnosing malformations related to the optic nerve in double optic disc cases.