Hasil untuk "Ophthalmology"

S. Deng, W. B. Lee, K. Hammersmith et al.

L. Balyen, T. Peto

Abstract: The lifestyle of modern society has changed significantly with the emergence of artificial intelligence (AI), machine learning (ML), and deep learning (DL) technologies in recent years. Artificial intelligence is a multidimensional technology with various components such as advanced algorithms, ML and DL. Together, AI, ML, and DL are expected to provide automated devices to ophthalmologists for early diagnosis and timely treatment of ocular disorders in the near future. In fact, AI, ML, and DL have been used in ophthalmic setting to validate the diagnosis of diseases, read images, perform corneal topographic mapping and intraocular lens calculations. Diabetic retinopathy (DR), age‐related macular degeneration (AMD), and glaucoma are the 3 most common causes of irreversible blindness on a global scale. Ophthalmic imaging provides a way to diagnose and objectively detect the progression of a number of pathologies including DR, AMD, glaucoma, and other ophthalmic disorders. There are 2 methods of imaging used as diagnostic methods in ophthalmic practice: fundus digital photography and optical coherence tomography (OCT). Of note, OCT has become the most widely used imaging modality in ophthalmology settings in the developed world. Changes in population demographics and lifestyle, extension of average lifespan, and the changing pattern of chronic diseases such as obesity, diabetes, DR, AMD, and glaucoma create a rising demand for such images. Furthermore, the limitation of availability of retina specialists and trained human graders is a major problem in many countries. Consequently, given the current population growth trends, it is inevitable that analyzing such images is time‐consuming, costly, and prone to human error. Therefore, the detection and treatment of DR, AMD, glaucoma, and other ophthalmic disorders through unmanned automated applications system in the near future will be inevitable. We provide an overview of the potential impact of the current AI, ML, and DL methods and their applications on the early detection and treatment of DR, AMD, glaucoma, and other ophthalmic diseases.

Ruixue Zhang, Yunxiao Xie, Miao Zhang et al.

Abstract Myopia is a serious public health issue worldwide. Damage to retinal ganglion cells (RGCs) in the retina induces degeneration of the visual cortex, which is known as anterograde trans-synaptic degeneration (TSD). However, the role of TSD in myopia is still unknown. Here single-cell RNA-sequencing revealed the activation of RGC apoptotic signals in the retinal ganglion and the remodeling of synapses in the visual cortex in myopia. The thickness of the retinal nerve fiber layer was negatively correlated with the degree of damage to the visual cortex and damage to neurons in the visual pathway and to the synaptic structure and function of the visual cortex indicated the occurrence of anterograde TSD in the visual pathway. The knockdown of Fos, which inhibited retinal neuronal apoptosis, suppressed TSD, indicating that myopia can aggravate RGC apoptosis, induce anterograde TSD and thus aggravate synaptic remodeling. Our findings provide a new experimental basis for understanding the pathogenesis of myopia.

Philipp Fuchs, Ursula Schmidt-Erfurth, Leonard M. Coulibaly et al.

Abstract To investigate the impact of retinal fluid dynamics on visual outcomes in patients with treatment-naïve neovascular age-related macular degeneration (nAMD) treated in the real world over 5 years using approved AI-based fluid monitoring. Real-world data comprising OCT scans and electronic medical records from 148 patients (187 eyes) were extracted from the Fight Retinal Blindness! (FRB! ) Zürich database. OCT scans were analysed using an approved AI algorithm (RetInSight, Vienna, Austria) to quantify fluid volumes by compartements. The impact of fluid persistence and fluctuations on BCVA change was assessed using forward stepwise regression and mixed models. Fluid compartments were further categorized into quartiles (SD-Qs), and the effect of fluid fluctuations on BCVA analysed (SD-Q1 least and SD-Q4 greatest variability of fluctuations). The greatest PED fluctuations in the central 1-mm showed an accentuated BCVA decrease after 2 and 4 years (estimate: -0.07, P = 0.019; estimate: -0.15, P < 0.01). After 4 years, eyes in SD-Q4 compared with SD-Q1 with greater PED fluctuations in the central 1-mm and 6-mm area were affected by a significant mean reduction in BCVA (-5.7 letters (P = 0.013); -6.1 letters (P = 0.015)). Greater intraretinal fluid (IRF) fluctuations (central 1-mm) (SD-Q4 compared with SD-Q1) were associated with a significantly worse mean BCVA by -6.8 letters (P = 0.018) after 5 years. Fluid persistence was not associated with statistically significant BCVA changes. In routine clinical management of nAMD, greater fluctuations of PED and IRF correlate with worse BCVA outcomes over long-term follow-up. A well-suited treatment regimen is required in the real world which can be utilized with AI-based fluid monitoring.

Koji Komatsu, Yoichiro Masuda, Hoshiho Kubota et al.

Abstract The study aimed to investigate whether eosinophil major basic protein (MBP), which is linked to cataract formation due to lens epithelial cell (LEC) damage in atopic dermatitis (AD), is associated with intraocular lens (IOL) dislocation. This retrospective observational study was conducted at a Medical University Hospital and included 22 eyes (10 AD, 12 non-AD [NAD]) that underwent IOL explantation and fixation. Surgeries were conducted to extract the intraocular lens capsule for morphological evaluations. Quantitative analysis of the MBP staining was conducted using the staining area ratio (SAR) gap. MBP staining was negative in all cases for both the lens capsule and LEC. The SAR gap in Soemmering’s ring was significantly higher in the AD group (14.3 ± 8.7%) than in the NAD group (1.1 ± 1.1%) (p = 0.0037). In contrast, the SAR gap for fibrous metaplasia showed no significant difference between the AD (8.3 ± 13.2%) and NAD (6.5 ± 12.3%) groups (p = 0.75). Six cases of fibrous metaplasia, including those in the NAD group, showed SAR gaps equal to or greater than those in the positive control group, with five classified as low-density fibrosis (LDF). While Soemmering’s rings in AD cases demonstrated greater MBP immunoreactivity than NAD controls, both groups exhibited MBP-positive fibrous metaplasia specimens.

Theodore Spaide, PhD, Anand E. Rajesh, MD, Nayoon Gim et al.

Purpose: To apply methods for quantifying uncertainty of deep learning segmentation of geographic atrophy (GA). Design: Retrospective analysis of OCT images and model comparison. Participants: One hundred twenty-six eyes from 87 participants with GA in the SWAGGER cohort of the Nonexudative Age-Related Macular Degeneration Imaged with Swept-Source OCT (SS-OCT) study. Methods: The manual segmentations of GA lesions were conducted on structural subretinal pigment epithelium en face images from the SS-OCT images. Models were developed for 2 approximate Bayesian deep learning techniques, Monte Carlo dropout and ensemble, to assess the uncertainty of GA semantic segmentation and compared to a traditional deep learning model. Main Outcome Measures: Model performance (Dice score) was compared. Uncertainty was calculated using the formula for Shannon Entropy. Results: The output of both Bayesian technique models showed a greater number of pixels with high entropy than the standard model. Dice scores for the Monte Carlo dropout method (0.90, 95% confidence interval 0.87–0.93) and the ensemble method (0.88, 95% confidence interval 0.85–0.91) were significantly higher (P < 0.001) than for the traditional model (0.82, 95% confidence interval 0.78–0.86). Conclusions: Quantifying the uncertainty in a prediction of GA may improve trustworthiness of the models and aid clinicians in decision-making. The Bayesian deep learning techniques generated pixel-wise estimates of model uncertainty for segmentation, while also improving model performance compared with traditionally trained deep learning models. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

XIONG Yanan, YI Xianglong

Myopia has become a global epidemic,with projections indicating that nearly half of the world’s population will be affected by myopia by 2050, positioning it has a significant global functional health concern. Beyond merely impairing vision, myopia also heightens the risk of blinding diseases such as macular degeneration and glaucoma. Although the pathogenesis of myopia is not yet fully elucidated, it is strongly associated with environmental factors, genetic predispositions, and circadian rhythm disruptions. The circadian rhythm plays a pivotal role in the onset and progression of myopia by governing mechanism such as light exposure, dopamine metabolism, and retinal signaling. Light serves as a crucial regulator of the circadian rhythm. Specifically, high light intensity during outdoor activities can effectively stimulate dopamine secretion, thereby inhibiting axial elongation and reducing the incidence of myopia. Conversely, abnormal light patterns, such as exposure to light at night, can disrupt this regulatory process. Moreover, insufficient sleep has been found to be negatively correlated with the incidence of myopia in children. Additionally, key ocular parameters, including axial length and vitreous cavity depth, exhibit pronounced diurnal rhythmic fluctuations. Dopamine, an important neurotransmitter in the retina, is regulated by circadian clock genes and functions to inhibit axial elongation. Both the circadian clock genes and photosensitive pigments within the retina are involved in regulating eye growth. Meanwhile, the autonomic nervous system contributes to this regulation by modulating choroidal thickness and blood flow perfusion. Animal experiments and clinical studies have consistently demonstrated that disrupted circadian rhythms can lead to axial elongation and the progression of myopia. Future research should delve deeper into the causal relationship between circadian rhythm and myopia, the regulatory mechanisms underlying dopamine metabolism, and the functions of circadian clock genes. Such investigation will pave the way for the development of effective strategies for myopia prevention and control.

Colya N. Englisch, Karl T. Boden, Clemens N. Rudolph et al.

Purpose: Implantation cysts of the iris are rare benign lesions resulting from epithelial downgrowth after trauma or surgery. This report highlights the management of an exceptional case of implantation cysts manifestation five decades after penetrating childhood trauma. Observation: A 59-year-old male patient with a history of penetrating trauma of the cornea at the age of 4 years presented with cystic anterior chamber lesions exhibiting pigment deposition. The pupil was distorted and almost entirely covered. 50 MHz ultrasound biomicroscopy and anterior segment optical coherence tomography displayed no evidence of malignancy. The cystic lesions were excised in an endothelium-protective manner and histopathological analysis revealed dysplasia-free corneal squamous epithelium compatible with implantation cysts of the iris. Conclusion and importance: Implantation cysts of the iris are benign and rare. Anterior segment imaging is required to exclude malignancies. Most cases emerge after surgery or trauma within months to a few years after injury. However, occurrence can also be delayed by several decades. It is thus mandatory to demand a full and long–lasting ophthalmological anamnesis, to accurately distinguish, diagnose, and treat cystic lesions of the iris.

Koffi KF-H, Ouattara Y, Koffi KAP et al.

RÉSUMÉ L’éversion congénitale des paupières est rare. Le diagnostic est essentiellement clinique. Le traitement est d’abord conservateur et le pronostic est bon si la prise en charge est faite tôt. Nous rapportons deux cas d’éversion congénitale des paupières reçu au service d’ophtalmologie du CHU de Bouaké. Notre premier cas était une fillette présentant une malformation des paupières supérieures et une desquamation cutanée généralisée. Le second cas était un nouveau né de sexe masculin présentant une tuméfaction palpébrale supérieure unilatérale droite, constatée à la naissance. L’examen à l’aide d’un blépharostat, après instillation de collyre anesthésique a montré chez les deux patients des globes oculaires d’aspects normaux. La prise en charge de nos patients consistait en l’application sous la paupière d’une pommade ophtalmique faite d’antibiotique et de corticoïde, en association fixe, puis de faire un repositionnement des paupières en position anatomique et enfin d’effectuer un pansement occlusif des paupières. L’évolution était favorable deux semaines après le début du traitement chez les 2 enfants. ABSTRACT Congenital eversion of the eyelids is rare. Diagnosis is essentially clinical. Treatment is initially conservative and the prognosis is good if treatment is started early. We report two cases of congenital eversion of the eyelids in the ophthalmology department of Bouaké University Hospital. Our first case was a young girl with malformation of the upper eyelids and generalized desquamation of the skin. The second case was a male neonate with unilateral right upper palpebral swelling at birth. Examination using a blepharostat, after instillation of anaesthetic eye drops, showed normal-looking eyeballs in both patients. The management of our patients consisted of applying an ophthalmic ointment containing antibiotics and corticosteroids in a fixed combination under the eyelid, then repositioning the eyelids in an anatomical position and finally applying an occlusive dressing to the eyelids. Both children progressed favourably two weeks after the start of treatment.

Tetsuya Muto, Shigeki Machida, Shinichiro Imaizumi

AIM: To evaluate the effect of background diseases and number of previous intravitreal aflibercept injections (IVAIs) on immediate intraocular pressure (IOP) increase and vitreous reflux (VR) rate and to evaluate the correlation of both age and axial length with immediate IOP increase and VR rate. METHODS: This study included 105 patients with cystoid macular edema secondary to retinal vein occlusion, 35 patients with diabetic macular edema, 69 patients with neovascular age-related macular degeneration (nAMD), and 12 patients with myopic choroidal neovascularization, which underwent first-time IVAI. The correlation of immediate IOP increase and VR rates with the four background diseases was investigated. Moreover, the correlation of age with immediate IOP increase and VR rate as well as correlation of axial length with immediate IOP increase and VR rate were evaluated. Further, 54 patients with nAMD were treated with IVAI>10 times (multiple IVAIs). Moreover, the correlation of immediate IOP increase and VR rates with first-time and multiple IVAIs in nAMD was determined. RESULTS: The immediate IOP increase (P=0.16) and VR rates (P=0.50) were almost similar among the four background diseases. The immediate postinjection IOP and age, VR rate and age, immediate postinjection IOP and axial length, or VR rate and axial length were not correlated in the four background diseases. The immediate IOP increase (P=0.66) and VR rates (P=0.28) did not significantly differ between first-time and multiple IVAIs in nAMD. CONCLUSION: Background diseases and number of previous IVAIs have no effect on immediate IOP increase and VR rate. Further, age and axial length have no correlation on immediate IOP increase and VR rate.

Koneru Suvarna Vani, Puppala Praneeth, Vivek Kommareddy et al.

Human vision depends heavily on retinal tissue. The loss of eyesight may result from infections of the retinal tissues that are treated slowly or do not work at all. Additionally, the diagnosis is susceptible to inaccuracies when a large dataset is involved. Therefore, a fully automated transfer learning approach for diagnosing diabetic retinopathy (DR) is suggested to minimize human intervention while maintaining high classification accuracy. To address this issue, we proposed a transfer learning-based trilateral attention network (TaNet) for the classification. To boost the visual quality of the DR pictures, a contrast constrained adaptive histogram equalization approach is applied. The pre-processed pictures are then segmented using a bilateral segmentation network (BiSeNet). The BiSeNet segmented the optic disc and blood vessels individually. After the completion of segmentation, the features are extracted. Feature extraction is based on the wavelet scattering transformation approach. The results of many trials were evaluated against the Messidor-2, EYEPACS, and APTOS 2019 datasets. The proposed model was created using a refined pre-trained technique and transfer learning methodology. Finally, the suggested framework was tested using efficiency assessment methods, and the classification rate was recorded as having above 98% sensitivity, specificity, precision, and accuracy. The proposed approach yields greater performance and shows enhancement towards the existing approach.

Ivan Seah, Xinyi Su, G. Lingam

Every year, during the Lunar New Year, the largest human migration in the world occurs in China. Almost 3 billion passenger-journeys are made as travellers reunite with distant families [1]. This year, things are different. The recent emergence of a novel coronavirus (2019-nCoV), which caused an outbreak of viral pneumonia in Wuhan, China, has led to three Chinese cities; Wuhan, Huanggang, Ezhou, placed under lockdown to curb transmission. The 2019nCoV has sparked global concern regarding the likelihood of the epidemic turning out like the 2003 Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV), where more than 8000 people were infected with 774 mortalities [2]. Healthcare workers represented 20% of the infected [2]. The 2019-nCoV serves as a reminder of the potential dangers posed by coronaviruses to both patients and doctors alike.

D. VanderVeen, R. Kraker, S. Pineles et al.

PURPOSE To review the published evidence to evaluate the ability of orthokeratology (Ortho-K) treatment to reduce myopic progression in children and adolescents compared with the use of spectacles or daytime contact lenses for standard refractive correction. METHODS Literature searches of the PubMed database, the Cochrane Library, and the databases of clinical trials were last conducted on August 21, 2018, with no date restrictions but limited to articles published in English. These searches yielded 162 citations, of which 13 were deemed clinically relevant for full-text review and inclusion in this assessment. The panel methodologist then assigned a level of evidence rating to the selected studies. RESULTS The 13 articles selected for inclusion include 3 prospective, randomized clinical trials; 7 nonrandomized, prospective comparative studies; and 3 retrospective case series. One study provided level I evidence, 11 studies provided level II evidence, and 1 study provided level III evidence. Most studies were performed in populations of Asian ethnicity. Change in axial length was the primary outcome for 10 of 13 studies and change in refraction was the primary outcome for 3 of 13 studies. In these studies, Ortho-K typically reduced axial elongation by approximately 50% over a 2-year study period. This corresponds to average axial length change values of approximately 0.3 mm for Ortho-K patients compared with 0.6 mm for control patients, which corresponds to a typical difference in refraction of approximately 0.5 diopters (D). Younger age groups and individuals with larger than average pupil size may have a greater effect with Ortho-K. Rebound can occur after discontinuation or change to alternative refractive treatment. CONCLUSIONS Orthokeratology may be effective in slowing myopic progression for children and adolescents, with a potentially greater effect when initiated at an early age (6-8 years). Safety remains a concern because of the risk of potentially blinding microbial keratitis from contact lens wear.

S. Sengupta, S. Honavar, M. Sachdev et al.

The COVID-19 pandemic has taken tragic proportions and has disrupted lives globally. In the wake of governmental lockdowns, ophthalmologists need practical and actionable guidelines based on advisories from national health departments on how to conduct their duties during nationwide lockdowns and after these are lifted. In this paper, we present a preferred practice pattern (PPP) based on consensus discussions between leading ophthalmologists and health care professionals in India including representatives from major governmental and private institutions as well as the All India Ophthalmological Society leadership. In this document, the expert panel clearly defines the range of activities for Indian ophthalmologists during the ongoing lockdown phase and precautions to be taken once the lockdown is lifted. Guidelines for triage, governmental guidelines for use of personal protective equipment from ophthalmologists' point of view, precautions to be taken in the OPD and operating room as well as care of various ophthalmic equipment have been described in detail. These guidelines will be applicable to all practice settings including tertiary institutions, corporate and group practices and individual eye clinics and should help Indian ophthalmologists in performing their professional responsibilities without being foci of disease transmission.

D. WuDunn, H. Takusagawa, A. Sit et al.

PURPOSE To review the current published literature on the use of OCT angiography (OCTA) to help detect changes associated with the diagnosis of primary open-angle glaucoma. METHODS Searches of the peer-reviewed literature were conducted in March 2018, June 2018, April 2019, December 2019, and June 2020 in the PubMed and Cochrane Library databases. Abstracts of 459 articles were examined to exclude reviews and non-English articles. After inclusion and exclusion criteria were applied, 75 articles were selected and the panel methodologist rated them for strength of evidence. Three articles were rated level I and 57 articles were rated level II. The 15 level III articles were excluded. RESULTS OCT angiography can detect decreased capillary vessel density within the peripapillary nerve fiber layer (level II) and macula (level I and II) in patients with suspected glaucoma, preperimetric glaucoma, and perimetric glaucoma. The degree of vessel density loss correlates significantly with glaucoma severity both overall and topographically (level II) as well as longitudinally (level I). For differentiating glaucomatous from healthy eyes, some studies found that peripapillary and macular vessel density measurements by OCTA show a diagnostic ability (area under the receiver operating characteristic curve) that is comparable with structural OCT retinal nerve fiber and ganglion cell thickness measurements, whereas other studies found that structural OCT measurements perform better. Choroidal or deep-layer microvasculature dropout as measured by OCTA is also associated with glaucoma damage (level I and II). Lower peripapillary and macular vessel density and choroidal microvasculature dropout are associated with faster rates of disease progression (level I and II). CONCLUSIONS Vessel density loss associated with glaucoma can be detected by OCTA. Peripapillary, macular, and choroidal vessel density parameters may complement visual field and structural OCT measurements in the diagnosis of glaucoma.

A. Sommer, E. Blumenthal

Technological advances in recent years have resulted in the development and implementation of various modalities and techniques enabling medical professionals to remotely diagnose and treat numerous medical conditions in diverse medical fields, including ophthalmology. Patients who require prolonged isolation until recovery, such as those who suffer from COVID-19, present multiple therapeutic dilemmas to their caregivers. Therefore, utilizing remote care in the daily workflow would be a valuable tool for the diagnosis and treatment of acute and chronic ocular conditions in this challenging clinical setting. Our aim is to review the latest technological and methodical advances in teleophthalmology and highlight their implementation in screening and managing various ocular conditions. We present them as well as potential diagnostic and treatment applications in view of the recent SARS-CoV-2 virus outbreak. A computerized search from January 2017 up to March 2020 of the online electronic database PubMed was performed, using the following search strings: “telemedicine,” “telehealth,” and “ophthalmology.” More generalized complementary contemporary research data regarding the COVID-19 pandemic was also obtained from the PubMed database. A total of 312 records, including COVID-19-focused studies, were initially identified. After exclusion of non-relevant, non-English, and duplicate studies, a total of 138 records were found eligible. Ninety records were included in the final qualitative analysis. Teleophthalmology is an effective screening and management tool for a range of adult and pediatric acute and chronic ocular conditions. It is mostly utilized in screening of retinal conditions such as retinopathy of prematurity, diabetic retinopathy, and age-related macular degeneration; in diagnosing anterior segment condition; and in managing glaucoma. With improvements in image processing, and better integration of the patient’s medical record, teleophthalmology should become a more accepted modality, all the more so in circumstances where social distancing is inflicted upon us.

M. Breazzano, J. B. Bond, S. Bearelly et al.

The American Academy of Ophthalmology evaluated the practice of routine screening for intraocular infection from Candida septicemia. In the United States, ophthalmologists are consulted in the hospital to screen for intraocular infection routinely for patients with Candida bloodstream infections. This practice was established in the era prior to the utilization of systemic antifungal medication and to the establishment of definitions of ocular disease with candidemia. A recent study found a rate of less than 1% of routinely screened patients with endophthalmitis from Candida septicemia. Other studies found higher rates of endophthalmitis but had limitations in terms of classifications of ocular disease, lack of vitreous biopsies, selection biases and lack of longer-term visual outcomes. Some studies attributed ocular findings to Candida infections, rather than other comorbidities. Studies also have not demonstrated differences in medical management that are modified for eye disease treatment; therefore, therapy should be dictated by the underlying Candida infection, rather than be tailored based on ocular findings. In summary, the Academy does not recommend a routine ophthalmologic consultation following laboratory findings of systemic Candida septicemia, which appears to be a low-value practice. An ophthalmologic consultation is a reasonable practice for a patient with signs or symptoms suggestive of ocular infection along with candidemia.

J. Ferris, P. Donachie, R. Johnston et al.

Objective To investigate the impact of EyeSi surgical simulators on posterior capsule rupture (PCR) rates of cataract surgery performed by first and second year trainee surgeons. Design A Royal College of Ophthalmologists’ National Ophthalmology Database audit study of first and second year surgeons’ PCR rates over seven consecutive National Health Service (NHS) years. Participating centres were contacted to ascertain the date when their surgeons had access to an EyeSi machine and whether this was on-site or off-site. Operations were classified as before, after or no access to EyeSi. Setting The study took place in 29 NHS Ophthalmology Units in a secondary care setting. Results Two-hundred and sixty five first and second year trainee surgeons performed 17 831 cataract operations. 6919 (38.8%) operations were performed before access to an EyeSi, 8648 (48.5%) after access to an EyeSi and 2264 (12.7%) operations by surgeons with no access to an EyeSi. Overall, there was a 38% reduction in the first and second year surgeon’s unadjusted PCR rates from 4.2% in 2009 to 2.6% in 2015 for surgeons with access to an EyeSi, and a 3% reduction from 2.9% to 2.8% for surgeons without access to an EyeSi. The overall first and second year unadjusted PCR rates for before, after and no access to EyeSi were 3.5%, 2.6% and 3.8%, respectively. The decrease in the with-access to an EyeSi group PCR rate was similar for surgeons with access to an EyeSi ‘on site’ or ‘off site’. Conclusions First and second year trainee surgeons’ unadjusted PCR rates have decreased since 2009 which has significant benefits for patients undergoing cataract surgery. This 38% reduction in complication rates aligns with the introduction of EyeSi simulator training.

Claudia S. Priglinger, Günter Rudolph, Irene Schmid et al.

Abstract Background Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to infections, and SOPH syndrome with its cardinal symptoms of short stature, optic atrophy, and Pelger–Huët anomaly. We aimed to present clinical and genetic characteristics of two sisters (20 and 15 years old) who were diagnosed with optic atrophy and cone dystrophy in childhood. Genome sequencing revealed two novel variants in NBAS in compound heterozygous state in both sisters, namely a 1‐bp deletion predicted to result in a premature termination codon (c.5104del; p.(Met1702*)), and a non‐canonical splice site variant of unclear significance (c.886‐5T>A; p.?). Results Clinical examination and history revealed cone dystrophy, optic atrophy, and Pelger–Huët anomaly, but no short stature, recurrent acute liver failure, or susceptibility to infections. RNA analysis revealed that the c.886‐5T>A variant results in two aberrant transcripts that are predicted to lead to in frame amino acid changes in the β‐propeller region of the protein. Conclusion We hypothesize that the phenotype of our subjects, which appears to be at the end of the spectrum of NBAS‐related disorders, could be explained by residual protein function mediated by the non‐canonical splice site variant c.886‐5T>A. Our study contributes to the existing knowledge on the genotypic and phenotypic spectrum of NBAS‐related disorders.

Wei-Chun Lin, Jimmy S Chen, M. Chiang et al.

Widespread adoption of electronic health records (EHRs) has resulted in the collection of massive amounts of clinical data. In ophthalmology in particular, the volume range of data captured in EHR systems has been growing rapidly. Yet making effective secondary use of this EHR data for improving patient care and facilitating clinical decision-making has remained challenging due to the complexity and heterogeneity of these data. Artificial intelligence (AI) techniques present a promising way to analyze these multimodal data sets. While AI techniques have been extensively applied to imaging data, there are a limited number of studies employing AI techniques with clinical data from the EHR. The objective of this review is to provide an overview of different AI methods applied to EHR data in the field of ophthalmology. This literature review highlights that the secondary use of EHR data has focused on glaucoma, diabetic retinopathy, age-related macular degeneration, and cataracts with the use of AI techniques. These techniques have been used to improve ocular disease diagnosis, risk assessment, and progression prediction. Techniques such as supervised machine learning, deep learning, and natural language processing were most commonly used in the articles reviewed.