Uncovering Language Disparity of ChatGPT on Retinal Vascular Disease Classification: Cross-Sectional Study.

BACKGROUND: Benefiting from rich knowledge and the exceptional ability to understand text, large language models like ChatGPT have shown great potential in English clinical environments. However, the performance of ChatGPT in non-English clinical settings, as well as its reasoning, have not been explored in depth. OBJECTIVE: This study aimed to evaluate ChatGPT's diagnostic performance and inference abilities for retinal vascular diseases in a non-English clinical environment. METHODS: In this cross-sectional study, we collected 1226 fundus fluorescein angiography reports and corresponding diagnoses written in Chinese and tested ChatGPT with 4 prompting strategies (direct diagnosis or diagnosis with a step-by-step reasoning process and in Chinese or English). RESULTS: Compared with ChatGPT using Chinese prompts for direct diagnosis that achieved an F1-score of 70.47%, ChatGPT using English prompts for direct diagnosis achieved the best diagnostic performance (80.05%), which was inferior to ophthalmologists (89.35%) but close to ophthalmologist interns (82.69%). As for its inference abilities, although ChatGPT can derive a reasoning process with a low error rate (0.4 per report) for both Chinese and English prompts, ophthalmologists identified that the latter brought more reasoning steps with less incompleteness (44.31%), misinformation (1.96%), and hallucinations (0.59%) (all P<.001). Also, analysis of the robustness of ChatGPT with different language prompts indicated significant differences in the recall (P=.03) and F1-score (P=.04) between Chinese and English prompts. In short, when prompted in English, ChatGPT exhibited enhanced diagnostic and inference capabilities for retinal vascular disease classification based on Chinese fundus fluorescein angiography reports. CONCLUSIONS: ChatGPT can serve as a helpful medical assistant to provide diagnosis in non-English clinical environments, but there are still performance gaps, language disparities, and errors compared to professionals, which demonstrate the potential limitations and the need to continually explore more robust large language models in ophthalmology practice.

ANALYSIS OF TRANSFER LEARNING FOR SELECT RETINAL DISEASE CLASSIFICATION.

PURPOSE: To analyze the effect of transfer learning for classification of diabetic retinopathy (DR) by fundus photography and select retinal diseases by spectral domain optical coherence tomography (SD-OCT). METHODS: Five widely used open-source deep neural networks and four customized simpler and smaller networks, termed the CBR family, were trained and evaluated on two tasks: 1) classification of DR using fundus photography and 2) classification of drusen, choroidal neovascularization, and diabetic macular edema using SD-OCT. For DR classification, the quadratic weighted Kappa coefficient was used to measure the level of agreement between each network and ground truth-labeled test cases. For SD-OCT-based classification, accuracy was calculated for each network. Kappa and accuracy were compared between iterations with and without use of transfer learning for each network to assess for its effect. RESULTS: For DR classification, Kappa increased with transfer learning for all networks (range of increase 0.152-0.556). For SD-OCT-based classification, accuracy increased for four of five open-source deep neural networks (range of increase 1.8%-3.5%), slightly decreased for the remaining deep neural network (-0.6%), decreased slightly for three of four CBR networks (range of decrease 0.9%-1.8%), and decreased by 9.6% for the remaining CBR network. CONCLUSION: Transfer learning improved performance, as measured by Kappa, for DR classification for all networks, although the effect ranged from small to substantial. Transfer learning had minimal effect on accuracy for SD-OCT-based classification for eight of the nine networks analyzed. These results imply that transfer learning may substantially increase performance for DR classification but may have minimal effect for SD-OCT-based classification.

Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.

The Foundation Fighting Blindness is a 50-year old 501c(3) non-profit organization dedicated to supporting the development of treatments and cures for people affected by the inherited retinal diseases (IRD), a group of clinical diagnoses that include orphan diseases such as retinitis pigmentosa, Usher syndrome, and Stargardt disease, among others. Over $760 M has been raised and invested in preclinical and clinical research and resources. Key resources include a multi-national clinical consortium, an international patient registry with over 15,700 members that is expanding rapidly, and an open access genetic testing program that provides no cost comprehensive genetic testing to people clinically diagnosed with an IRD living in the United States. These programs are described with particular focus on the challenges and outcomes of establishing the registry and genetic testing program.

EVALUATION OF ACCURACY AND UNIFORMITY OF THE NOMENCLATURE OF VITREORETINAL INTERFACE DISORDERS.

PURPOSE: To evaluate the accuracy and uniformity of the definitions used to diagnose vitreoretinal (VR) interface disorders and to assess it after review of its definitions. METHODS: A case-series study, consisting of a questionnaire of 46 optical coherence tomography images of six VR interface disorders: vitreomacular adhesion, vitreomacular traction, epiretinal membrane, full-thickness macular hole, lamellar macular hole, and pseudohole. Images were presented to 41 practicing ophthalmologists (13 residents, 11 VR specialists, and 17 non-VR specialists), and a diagnosis was recorded for each image. The questionnaire was repeated after review of the International Vitreomacular Traction Study (IVTS) group classification. Rates of accuracy and uniformity for each condition were analyzed. RESULTS: Overall correct identification rates according to the IVTS classification were achieved in 67.4% of cases and were highest for epiretinal membrane and full-thickness macular hole, followed by vitreomacular adhesion, vitreomacular traction, and lamellar macular hole, and were significantly lower for pseudohole (P < 0.001). Accuracy was higher among VR specialists and was associated with previous familiarity with the IVTS classification (P = 0.043) but not with length of experience in ophthalmology (P = 0.74). After review of the IVTS classification, overall correct identification rates improved to 71.7% (P = 0.004), with the significant improvement in pseudohole identification (P = 0.002). CONCLUSION: The IVTS classification is effective in standardizing the diagnosis of VR interface disorders. It is expected to become increasingly assimilated among ophthalmologists over time, leading to higher rates of accuracy and uniformity in diagnosing VR interface disorders.

VALIDATION OF THE RECENTLY DEVELOPED ATN CLASSIFICATION AND GRADING SYSTEM FOR MYOPIC MACULOPATHY.

PURPOSE: To validate the recently developed ATN grading system for myopic maculopathy to classify eyes with pathologic myopia. METHODS: Cross-sectional study. A series of consecutive eyes diagnosed with pathologic myopia and signs of myopic maculopathy (grade ≥1 for atrophic, tractional, or neovascular components of the ATN), with a refractive error > -6.0 diopters (D), were included. All patients underwent complete ophthalmological examination including fundus photography and swept-source optical coherence tomography. Six observers graded each eye twice using the ATN system (≥15 days between assessments) based only on the aforementioned data. RESULTS: Sixty eyes from 47 patients (61.7% female) were graded. Mean patient age was 63.2 ± 11.7 years. The mean spherical equivalent was -13.8 ± 6.5 D. Mean axial length was 28.6 ± 2.16 mm. Overall, the mean intraobserver agreement (%) for the same image was 92.0%, and the mean interobserver agreement for the second image was 77.5%. The weighted Fleiss k showed excellent correlation (k > 0.8) for the traction and neovascularization components and good correlation (0.75) for atrophy. Interobserver agreement for each of these three components was 95.2%, 98.4%, 95.0%, respectively. CONCLUSION: Application of the ATN resulted in high intraobserver and interobserver correlation, underscoring the reproducibility of the system.

Multiclass retinal disease classification and lesion segmentation in OCT B-scan images using cascaded convolutional networks.

Disease classification and lesion segmentation of retinal optical coherence tomography images play important roles in ophthalmic computer-aided diagnosis. However, existing methods achieve the two tasks separately, which is insufficient for clinical application and ignores the internal relation of disease and lesion features. In this paper, a framework of cascaded convolutional networks is proposed to jointly classify retinal diseases and segment lesions. First, we adopt an auxiliary binary classification network to identify normal and abnormal images. Then a novel, to the best of our knowledge, U-shaped multi-task network, BDA-Net, combined with a bidirectional decoder and self-attention mechanism, is used to further analyze abnormal images. Experimental results show that the proposed method reaches an accuracy of 0.9913 in classification and achieves an improvement of around 3% in Dice compared to the baseline U-shaped model in segmentation.

An enhanced OCT image captioning system to assist ophthalmologists in detecting and classifying eye diseases.

Human eye is affected by the different eye diseases including choroidal neovascularization (CNV), diabetic macular edema (DME) and age-related macular degeneration (AMD). This work aims to design an artificial intelligence (AI) based clinical decision support system for eye disease detection and classification to assist the ophthalmologists more effectively detecting and classifying CNV, DME and drusen by using the Optical Coherence Tomography (OCT) images depicting different tissues. The methodology used for designing this system involves different deep learning convolutional neural network (CNN) models and long short-term memory networks (LSTM). The best image captioning model is selected after performance analysis by comparing nine different image captioning systems for assisting ophthalmologists to detect and classify eye diseases. The quantitative data analysis results obtained for the image captioning models designed using DenseNet201 with LSTM have superior performance in terms of overall accuracy of 0.969, positive predictive value of 0.972 and true-positive rate of 0.969using OCT images enhanced by the generative adversarial network (GAN). The corresponding performance values for the Xception with LSTM image captioning models are 0.969, 0.969 and 0.938, respectively. Thus, these two models yield superior performance and have potential to assist ophthalmologists in making optimal diagnostic decision.

Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data.

PURPOSE: The full-field electroretinogram (ff-ERG) is a widely used clinical tool to evaluate generalized retinal function by recording electrical potentials generated by the cells in the retina in response to flash stimuli and requires mydriasis. The purpose of this study was to determine the intra-visit reliability and diagnostic capability of a handheld, mydriasis-free ERG, RETeval (LKC Technologies, Gaithersburg, MD, USA), in comparison with the standard clinical ff-ERG by measuring responses recommended by the International Society for Clinical Electrophysiology of Vision (ISCEV). METHODS: This prospective, cross-sectional study included 35 patients recruited at the Hospital for Sick Children (median age = 17, range 11 months-69 years) who had undergone a clinical ff-ERG according to ISCEV standards. For RETeval (n = 35), pupils were undilated in most (n = 29) and sensor strip electrodes were placed under the inferior orbital rim. Stimulus settings on RETeval were equivalent to those used in the clinical ERG. Fifty-seven control participants (median age = 22, range 8-65 years) underwent undilated RETeval ERG to establish standard values for comparison. Patient waveform components with amplitudes < 5th percentile, or implicit times > 95th percentile of normal relative to control data were classified as abnormal for the RETeval system. RESULTS: The RETeval system demonstrated a high degree of within-visit reliability for amplitudes (ICC = 0.82) and moderate reliability for implicit times (ICC = 0.53). Cohen's Kappa analysis revealed a substantial level of agreement between the diagnostic capability of RETeval in comparison with clinical ff-ERG (k = 0.82), with a sensitivity and specificity of 1.00 and 0.82, respectively. Pearson's correlations for clinical ERG versus RETeval demonstrated a positive correlation for amplitudes across the rod (r = 0.65) and cone (r = 0.74) ERG waveforms. Bland-Altman plots showed no bias between the mean differences across all amplitude and implicit time parameters of the two systems. CONCLUSIONS: The present study demonstrated that RETeval is a reliable tool with reasonable accuracy in comparison with the clinical ERG. The portable nature of RETeval system enables its incorporation at resource-limited centers where the ff-ERG is not readily available. The avoidance of sedation and pupillary dilation are added advantages of RETeval ERG.

NOVEL CLASSIFICATION SYSTEM FOR COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM.

PURPOSE: To develop an anatomical classification scheme for combined hamartoma of the retina and retinal pigment epithelium (RPE) and specify recommendations for follow-up interval. METHODS: Retrospective review of patients with combined hamartoma of the retina and RPE examined during a 7-year period (2008-2015). The clinical presentation, fundus examination, and optical coherence tomography were analyzed. RESULTS: Lesions were classified based on location, fundus features, and optical coherence tomography findings. Lesion location: macular/peripapillary-Zone 1; mid-periphery-Zone 2; and far periphery-Zone 3. Associated fundus findings: no retinal traction-Stage 1; retinal traction and/or retinoschisis-Stage 2; and retinal detachment-Stage 3. Optical coherence tomography findings: epiretinal component only-A; partial retinal involvement-B; and complete retinal and RPE involvement-C. Complete ophthalmologic evaluation is recommended at least every 6 months for patients younger than 12 years, with more frequent follow-up in patients with: lesions in the macula/peripapillary (Zone 1) or with retinal traction, retinoschisis, or retinal detachment (Stage 2 and 3). Surgical intervention is recommended in patients with vision loss secondary to macular traction or retinal detachment. CONCLUSION: A new clinical classification system is proposed for evaluating and managing patients with combined hamartoma of the retina and RPE. The zone and stage of combined hamartoma of the retina and RPE lesion will assist in determining follow-up interval and surgical intervention. Application of a uniform classification scheme will facilitate assessment and comparison of findings across different studies.

Peripheral retinal findings in populations with macular disease are similar to healthy eyes.

PURPOSE: Recent evidence suggests several macular diseases are associated with peripheral retinal changes. This study investigated the number, type and management consequences of peripheral retinal findings detected in patients attending a referral only, eye-care clinic, the Centre for Eye Health(CFEH) with macular disease. METHODS: Records of 537 patients attending CFEH for a macular assessment were included in the study. Subjects were classified as having age-related macular degeneration (AMD), epiretinal membrane (ERM), central serous chorioretinopathy (CSCR), inherited macular dystrophy or no macular disease. Data extracted included reason for referral, macular findings, peripheral findings (based on examination by ultra-widefield scanning laser ophthalmoscopy), diagnosis and management. RESULTS: After age-matching, the number of peripheral findings in subjects with AMD, ERM or CSCR was not significant different to normal subjects. The most common finding for all cohorts were non-specific, degenerative changes such as drusen or pigmentation (61-72%) except inherited macular dystrophy subjects who had mostly vascular findings (30%; p < 0.05). Subjects with AMD and ERM with peripheral findings were significantly more likely to be reviewed or referred to an ophthalmologist than discharged back to their community eye care provider compared to subjects without findings. However only 8% of subjects had altered management based specifically on peripheral findings suggesting the macular findings in most subjects dictated their management. For those with a change, it was significant (upgrade to referral to an ophthalmologist). Peripheral findings also flagged 5% of subjects with vascular findings for referral to their general practitioner (GP). CONCLUSIONS: Overall, the percentage and distribution of peripheral retinal findings in some macular diseases was similar to normal subjects. However, subjects with peripheral findings appeared to have significant differences in management. Considering some common findings, such as peripheral drusen may be relevant to AMD pathogenesis and therefore affect management of this disease, assessment of the peripheral retina should not be overlooked when the clinical focus is on the posterior pole.

Classification and characterization of acute macular neuroretinopathy with spectral domain optical coherence tomography.

PURPOSE: To classify and characterize AMN lesions with SD-OCT during a follow-up as long as 5 years. METHODS: Retrospective study of 14 patients (18 eyes) with special focus on SD-OCT. We measured thickness of inner nuclear layer (INL), outer retinal layer (ONL), and hyperreflective band at baseline and during follow-up. AMN lesions were classified as type 1 and type 2. RESULTS: Of 14 patients (six males, eight females, mean age 29.7 years), three patients (four eyes) had type 1 and nine (12 eyes) had type 2. Two patients did not meet the criteria for AMN type 1 or 2 and were therefore classified as new subtype of AMN. In all patients, statistically significant thinning of ONL and INL was observable. Mean ONL of all patients was 90.2 ± 7.81 and 72.3 ± 15.64 µm (p < 0.05) during follow-up; mean INL was 54.4 ± 10.71 and 37.5 ± 6.18 µm (p < 0.05) in the course. In the subgroup analysis in AMN type 2, the thinning of both ONL and INL was also statistically significant (mean ONL: 87.4 ± 6.02 and 71.6 ± 12.7 µm (p < 0.05); mean INL: 48.5 ± 5.04 and 38.5 ± 5.6 µm (p < 0.05)) in the course. CONCLUSION: SD-OCT allows for classification, characterization, and further understanding of AMN lesions. Up to now, this is one of the largest AMN case series differentiating into different subtypes and following up for up to 5 years. Furthermore, we describe a new AMN subtype characterized by initially clinically visible yellowish parafoveal lesions, subtle pigmentary changes at late stage, lack of classic dark appearance on IR reflectance, involvement of RPE/Bruch's complex, and disruption of ellipsoid zone and interdigitation zone. The patients suffered from a prolonged visual impairment and paracentral scotomata. We propose the term AMN type 3 or "paracentral acute outer maculopathy."

Ocular toxicities of MEK inhibitors and other targeted therapies.

Many classes of anticancer therapy, including chemotherapeutic agents, hormonal and molecular targeted treatments, can produce ocular toxicity. Novel agents that target different cellular pathways have been related to a wide spectrum of ophthalmologic toxicities that can range from mild to severe, and include conjunctivitis, blurred vision, keratitis and optic neuritis, among others. Special attention has been drawn to the inhibitors of the MEK signaling pathway, due to their sine qua non ocular toxicity, defined as MEK retinopathy and described as symmetrical bilateral disease that develops in a time-dependent and dose-dependent manner. In this review, we discuss ophthalmologic toxicities associated with molecular targeted therapies, with particular focus on MEK retinopathy, including its nomenclature, incidence, symptoms and management.

RETINAL ASTROCYTIC HAMARTOMA: Optical Coherence Tomography Classification and Correlation With Tuberous Sclerosis Complex.

PURPOSE: To propose a classification of retinal astrocytic hamartoma based on spectral domain optical coherence tomography and correlate each class with systemic manifestations of tuberous sclerosis complex. METHODS: Retrospective chart review conducted at four international referral medical retina centers. There were 43 consecutive patients with an established diagnosis of tuberous sclerosis complex based on presence of at least 2 major or 1 major and 2 minor features of the diagnostic criteria. Clinical and spectral domain optical coherence tomography features regarding retinal astrocytic hamartoma were documented. RESULTS: The mean patient age at presentation was 16.2 years. The retinal astrocytic hamartoma was classified as Type I (n = 41), Type II (n = 25), Type III (n = 20), or Type IV (n = 12). Patients with Type II showed greater number of cutaneous fibrous plaques (odds ratio = 64.8; 92% confidence interval: 64.2-65; P < 0.001); those with Type III displayed higher incidence of subependymal giant-cell astrocytomas (odds ratio = 43.2; 95% confidence interval: 43.0-43.3; P < 0.001); and those with Type IV showed higher incidence of pulmonary lymphangiomyomatosis (odds ratio = 126; 95% confidence interval: 122-128; P < 0.001). CONCLUSION: Retinal astrocytic hamartoma can be classified into four morphologic groups, based on spectral domain optical coherence tomography. There are important systemic tuberous sclerosis complex correlations with each class.

INCREASED POSTERIOR RETINAL VESSELS IN MILD ASYMPTOMATIC FAMILIAL EXUDATIVE VITREORETINOPATHY EYES.

PURPOSE: To document a new clinical manifestation in familial exudative vitreoretinopathy (FEVR) eyes, especially in mild asymptomatic eyes with normal vision. METHODS: Twenty individuals with mild Stage I or II FEVR with a conventional "normal-appearing" posterior pole and 20 healthy control eyes were recruited. The crossing numbers of retinal vessels with peripapillary inner reference circle, peripapillary outer reference circle, peripapillary temporal inner arc, peripapillary temporal outer arc, and branching points between the peripapillary outer reference circle and peripapillary inner reference circle were counted. Vessel bifurcation was evaluated by B/CI (defined as the branching number divided by the crossing number on peripapillary inner reference circle) and CO/B (crossing number on peripapillary outer reference circle divided by the branching number) ratios. The inter- and intraobservers' agreements were analyzed. All these parameters were compared between FEVR and control groups. RESULTS: The coefficient of repeatability for the parameters ranged from 2.597 to 5.096, and the intraclass correlation coefficients were all above 0.85. All the parameters showed good interobserver agreement with a narrow range of 95% limit of agreement (from -3.16 to 3.37) and high Pearson correlation (P < 0.001). The mean crossing numbers on peripapillary inner reference circle, peripapillary outer reference circle, peripapillary temporal inner arc, peripapillary temporal outer arc, and the branching numbers were larger in the FEVR group. No significant differences were found in CO/B and B/CI ratios. CONCLUSION: Patients with FEVR have more vessels radiated from the optic disk in the posterior pole. Unlike the increased vessels in the peripheral retina, the increasing pattern of peripapillary vascularity in patients with FEVR does not appear to have a component of overbifurcation. This is a new documented clinical manifestation in patients with FEVR. Attention to an increased or arrangement pattern of retinal vessels may aid in the screening of FEVR.

A clinical grading system based on ultra-wide field retinal imaging for sunset glow fundus in Vogt-Koyanagi-Harada disease.

BACKGROUND: To develop a grading system for sunset glow fundus (SGF) based on the results of ultra-wide field retinal imaging and to investigate the factors related to the severity of SGF in patients with Vogt-Koyanagi-Harada (VKH) disease. METHODS: Records of 55 eyes with VKH disease were retrospectively reviewed. All patients had undergone serial fundus photography, ultra-wide field retinal imaging and spectral-domain optical coherence tomography. The morphologic characteristics of SGF and associated features related to the severity of the condition were evaluated. RESULTS: Sunset glow fundi were classified into 3 groups based on the extent and severity of depigmentary changes: early (n = 7), intermediate (n = 10) and advanced (n = 20). Grade 0 indicates the absence of sunset glow appearance. Eyes with a higher SGF grade were more likely to exhibit chronic recurrence (P < 0.001) and an anterior chamber reaction ≥ 2+ (P < 0.001), and were less likely to exhibit exudative retinal detachment (P < 0.001) at the initial presentation. Higher grades were more likely to exhibit cataracts (P < 0.001), glaucoma (P = 0.010), patchy chorioretinal atrophic lesions (P = 0.012), depigmented atrophic lesions (P < 0.001), an increased peripapillary atrophy/disc area ratio (P < 0.001), a decreased subfoveal choroidal thickness (P < 0.001), more frequent uveitis recurrences (P = 0.012) and a longer disease duration (P < 0.001). SGF progression was faster in eyes with a longer active inflammatory period. CONCLUSIONS: We present a simple and logical grading system for SGF as determined by using ultra-wide field retinal imaging. This grading system offers a means of assessing the degree of inflammation and facilitates speculation about the duration of VKH disease.

NONINVASIVE GRADING OF RADIATION RETINOPATHY: The Use of Optical Coherence Tomography Angiography.

PURPOSE: Previous studies have shown that spectral domain optical coherence tomography can diagnose radiation retinopathy (RR) before ophthalmoscopic findings. Recently, optical coherence tomography angiography (OCT-A) has been helpful in seeing vascular findings undetected by spectral domain optical coherence tomography. The authors wish to demonstrate the OCT-A grading at varying levels of RR. METHODS: The OCT-A, spectral domain optical coherence tomography, and ophthalmoscopic findings on 7 patients from December 2014 to March 2015 with varying levels of RR are demonstrated. RESULTS: Findings on OCT-A could be demonstrated before spectral domain optical coherence tomography findings. Patients can be graded on a scale of increasing severity from 0 to 5, based on positive or negative clinical findings of RR between OCT-A. Optical coherence tomography increased central macular thickness, optical coherence tomography evident cysts, and ophthalmoscopy (Grade 0: -,-,-,-; Grade 1: +,-,-,-; Grade 2: +,+,-,-; Grade 3: +,+,+,-; Grade 4: ++,+,+,+; Grade 5: unreadable,++,++,+). CONCLUSION: The use of OCT-A allows for earlier detection of RR; thus, existing grading systems should be modified to include OCT-A.

UTILIZATION OF FUNDUS AUTOFLUORESCENCE, SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY, AND ENHANCED DEPTH IMAGING IN THE CHARACTERIZATION OF BIETTI CRYSTALLINE DYSTROPHY IN DIFFERENT STAGES.

PURPOSE: To characterize Bietti crystalline dystrophy (BCD) in different stages using multiple imaging modalities. METHODS: Sixteen participants clinically diagnosed as BCD were included in the retrospective study and were categorized into 3 stages according to fundus photography. Eleven patients were genetically confirmed. Fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging features of BCD were analyzed. RESULTS: On fundus autofluorescence, the abnormal autofluorescence was shown to enlarge in area and decrease in intensity with stages. Using spectral domain optical coherence tomography, the abnormalities in Stage 1 were observed to localize in outer retinal layers, whereas in Stage 2 and Stage 3, more extensive retinal atrophy was seen. In enhanced depth imaging, the subfoveal choroidal layers were delineated clearly in Stage 1; in Stage 2, destructions were primarily found in the choriocapillaris with associated alterations in the outer vessels; Stage 3 BCD displayed severe choroidal thinning. Choroidal neovascularization and macular edema were exhibited with high incidence. IVS6-8del17bp/inGC of the CYP4V2 gene was the most common mutant allele. CONCLUSION: Noninvasive fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging may help to characterize the chorioretinal pathology of BCD at different degrees, and therefore, we propose staging of BCD depending on those methods. Physicians should be cautious of the vision-threatening complications of the disease.

Novel optical coherence tomography classification of torpedo maculopathy.

BACKGROUND: Torpedo maculopathy is a rare condition with a twofold clinical significance. Firstly, it is a differential of atypical congenital hypertrophy of the retinal pigment epithelium. Secondly, visual field loss has been reported. We demonstrate the spectrum of structural abnormality of torpedo maculopathy as seen on optical coherence tomography, and correlate this with age of presentation, fundus autofluorescence, retinal sensitivity loss and visual field abnormality. DESIGN: A retrospective, observational case series. PARTICIPANTS: Five Australian patients seen between 2008 and 2013. METHODS: Fundus photography, optical coherence tomography, fundus autofluorescence and visual field analysis. One patient underwent fluorescein angiography. MAIN OUTCOME MEASURES: Lesion appearance on each imaging modality, and visual field analysis. RESULTS: We consistently observed a flat, hypopigmented lesion located in the temporal macula, with a distinctive tip pointing toward the fovea. Optical coherence tomography demonstrated variable retinochoroidal features ranging from mild outer retinal disturbance (type 1) to outer retinal cavitation (type 2). Lesion appearance on short-wave autofluorescence showed varying degrees of hypo-autofluorescence. Near-infrared autofluorescence was performed in two patients and showed a well-defined region of hypo-autofluorescence. Microperimetry showed normal sensitivity over the lesion in one patient and a dense paracentral scotoma over the temporal portion of the lesion in another. On Humphrey field analysis, only one of two patients tested had a paracentral scotoma. CONCLUSION: Two types of torpedo maculopathy lesions are described here with unique optical coherence tomography, demographic, fundus autofluorescence and retinal sensitivity features. These may represent different stages of the same disease that evolve over several decades.

Microperimetric assessment of the two optical coherence tomography subtypes of acute macular neuroretinopathy.

BACKGROUND: This study evaluates the morpho-functional alterations associated with acute macular neuroretinopathy (AMNR). DESIGN: Prospective observational case series study carried out at the University Vita-Salute, Scientific Institute San Raffaele. PARTICIPANTS: Five out of six eyes (three patients) showed the typical features of AMNR. METHODS: The patients underwent an ophthalmological examination, including best-corrected visual acuity (BCVA) measurement, electroretinogram and electroculogram (ERG/EOG), multifocal electroretinogram (mfERG), infrared reflectance, short wavelength and near-infrared-fundus autofluorescence (SW-FAF/NIR-FAF), spectral-domain optical coherence tomography (SD-OCT) and microperimetry. MAIN OUTCOME MEASURE: Microperimetric alterations in the two SD-OCT subtypes of AMNR. RESULTS: The BCVA was 20/20 in all patients. ERG and EOG were normal; mfERG revealed a generally reduced response with a more reduced signal in the areas corresponding to the macular lesions. SD-OCT demonstrated two different patterns of retinal alterations. In case 1, SD-OCT revealed a hyperreflective, plaque-like band at the junction of the outer plexiform layer (OPL) and the inner nuclear layer (INL), extending into the INL (type 1 lesion). In cases 2 and 3, SD-OCT disclosed a hyperreflectivity of the OPL associated with outer nuclear layer thinning and disruption of the outer segment/retinal pigment epithelium junction (type 2 lesion). Microperimetry revealed a wide scotoma involving the entire macular area in all eyes, including the unaffected eye of case 1. The reduction in retinal sensitivity was greatest in type 1. CONCLUSIONS: SD-OCT confirms that AMNR may occur in different patterns. Microperimetry demonstrated that functional alterations are also discernible in apparently uninvolved areas. Both examinations are extremely valuable in characterizing the changes associated with AMNR.

Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy.

PURPOSE: To describe the diversity of clinical findings associated with familial exudative vitreoretinopathy (FEVR) using wide-field angiography and to update the current classification system. DESIGN: Retrospective case series at a single tertiary referral vitreoretinal practice. PARTICIPANTS: A total of 174 eyes of 87 subjects were studied. METHODS: A retrospective chart review was conducted of patients with a diagnosis of FEVR between January 2011 and January 2013 at a single tertiary care retina practice. Data were collected from patient charts, including sex, gestational age at birth, age at presentation, referring diagnosis, family history, prior ocular surgery, clinical presentation, and diagnostic imaging in each eye. Inclusion criteria included clinical diagnosis of FEVR in patients referred to our clinic for evaluation of decreased vision. Patients were excluded if a diagnosis of FEVR could not be made. MAIN OUTCOME MEASURES: Clinical and angiographic findings. RESULTS: A total of 87 subjects met the inclusion criteria for this study. A broad spectrum of previously undescribed clinical and angiographic findings were associated with FEVR on wide-field angiography. These findings can be grossly divided into anatomic and functional changes. Anatomic changes include aberrant circumferential peripheral vessels, venous and arterial tortuosity, late-phase disc leakage, central and peripheral telangiectasias, capillary anomalies, and capillary agenesis. Functional changes include venous-venous shunting, delayed arteriovenous transit, and delayed or absent choroidal perfusion on fluorescein angiography. CONCLUSIONS: Familial exudative vitreoretinopathy has a wide range of unrecognized or under-recognized clinical and angiographic findings that are easily identified using wide-field fluorescein angiography. These novel findings have led to an update of the original FEVR classification scheme and more complete characterization of early stages of FEVR.