A Deep Learning System Using Optical Coherence Tomography Angiography to Detect Glaucoma and Anterior Ischemic Optic Neuropathy.

INTRODUCTION: Glaucoma and non-arteritic anterior ischemic optic neuropathy (NAION) are optic neuropathies that can both lead to irreversible blindness. Several studies have compared optical coherence tomography angiography (OCTA) findings in glaucoma and NAION in the presence of similar functional and structural damages with contradictory results. The goal of this study was to use a deep learning system to differentiate OCTA in glaucoma and NAION. MATERIAL AND METHODS: Sixty eyes with glaucoma (including primary open angle glaucoma, angle-closure glaucoma, normal tension glaucoma, pigmentary glaucoma, pseudoexfoliative glaucoma and juvenile glaucoma), thirty eyes with atrophic NAION and forty control eyes (NC) were included. All patients underwent OCTA imaging and automatic segmentation was used to analyze the macular superficial capillary plexus (SCP) and the radial peripapillary capillary (RPC) plexus. We used the classic convolutional neural network (CNN) architecture of ResNet50. Attribution maps were obtained using the "Integrated Gradients" method. RESULTS: The best performances were obtained with the SCP + RPC model achieving a mean area under the receiver operating characteristics curve (ROC AUC) of 0.94 (95% CI 0.92-0.96) for glaucoma, 0.90 (95% CI 0.86-0.94) for NAION and 0.96 (95% CI 0.96-0.97) for NC. CONCLUSION: This study shows that deep learning architecture can classify NAION, glaucoma and normal OCTA images with a good diagnostic performance and may outperform the specialist assessment.

PreserFlo MicroShunt® exposure: a case series.

BACKGROUND: PreserFlo® MicroShunt (PM) (also known as InnFocus® MicroShunt) is a subconjunctival stent implanted ab externo via a minimally invasive surgical procedure. The current indication is progressive, mild to moderate, open angle glaucoma uncontrolled on topical medications. According to the literature, adverse events are rare, mild and transient. CASE PRESENTATION: Two cases of stand-alone PreserFlo MicroShunt® implantation in patients with uncontrolled open-angle glaucoma are reported. Exposure occurred 7 days and 3 months respectively after implantation. These cases shared common features including preexisting blepharitis and the lack of a Tenon's flap. In both cases, removal of the device was required after several attempts at repair. CONCLUSIONS: PreserFlo MicroShunt® exposure is a potentially vision-threatening complication because of the risk of endophthalmitis. Potential risk factors include the absence of a Tenon's flap and pre-existing ocular surface inflammation. Ocular surface inflammation should be detected and treated prior to PM implantation. If a deficiency in Tenon's capsule is noted intraoperatively, close monitoring should be performed because of the higher risk of PM exposure.

Congenital immobility and stiffness related to biallelic ATAD1 variants.

OBJECTIVE: To delineate the phenotype associated with biallelic ATAD1 variants. METHODS: We describe 2 new patients with ATAD1-related disorder diagnosed by whole-exome sequencing and compare their phenotype to 6 previous patients. RESULTS: Patients 1 and 2 had a similar distinctive phenotype comprising congenital stiffness of limbs, absent spontaneous movements, weak sucking, and hypoventilation. Both had absent brainstem evoked auditory responses (BEARs). Patient 1 carried the homozygous p.(His357Argfs*15) variant in ATAD1. In the light of the finding in patient 1, a second reading of exome data for patient 2 revealed the novel homozygous p.(Gly128Val) variant. CONCLUSIONS: Analysis of the phenotypes of these 2 patients and of the 6 previous cases showed that biallelic ATAD1 mutations are responsible for a unique congenital encephalopathy likely comprising absent BEAR, different from hyperekplexia and other conditions with neonatal hypertonia.

Ritonavir associated maculopathy- multimodal imaging and electrophysiology findings.

PURPOSE: To report the case 47-year-old patient presenting with severe maculopathy associated with long-term ritonavir treatment. METHODS: Observational case report of one patient and literature review. RESULTS: A 47 year-old Caucasian man presented with progressive bilateral vision loss for the past 5 years. His medical history included Human Immunodeficiency Virus (HIV) and Hepatitis C Virus (HCV) coinfection since 1992. He was treated by highly active antiretroviral therapy for 24 years including 4 years of didanosine treatment and 18 years of ritonavir treatment. Bilateral extensive macular atrophy with foveal sparing on the left eye and absence of midperipheral/peripheral retina involvement was confirmed on multimodal imaging and functional testing including swept-source OCT angiography and electroretinography. CONCLUSION: Ritonavir associated maculopathy is a scarcely described medication-associated retinopathy. In this case, an extensive macular atrophy (with complete loss of photoreceptor, RPE and choriocapillaris layers) and subsequent cone-rod dysfunction appeared after 18 years of ritonavir exposure.

Spectral-Domain Optical Coherence Tomography Analysis of Fibrotic Lesions in Neovascular Age-Related Macular Degeneration.

PURPOSE: To describe the spectral-domain optical coherence tomography (OCT) features of fibrotic lesions associated with neovascular age-related macular degeneration (nAMD) and to outline the progression pathways from initial macular choroidal neovascular lesions (CNVs) to fibrosis. METHODS: Patients with nAMD were retrospectively included when macular subretinal fibrosis was present. Fibrosis was categorized using spectral-domain OCT with respect to retinal pigment epithelium (RPE) in 836 spectral-domain OCT slices from 44 eyes of 39 patients. In addition, in 47 distinct eyes, 4181 spectral-domain OCT slices were retrospectively reviewed to longitudinally assess progression from the initial lesion to the final fibrosis. RESULTS: Cross-sectional analysis classified fibrosis on spectral-domain OCT slices, as type A if located underneath the RPE, as type B if located above the RPE, and as type C if the remaining RPE was undistinguishable. The longitudinal analysis series revealed 3 progression pathways from the original CNV: 1) progression to type A, followed by RPE erosion and subretinal hyperreflective material, then type B and type C fibroglial lesion (FGL; 17/47 eyes); 2) progression to type B then type C FGL (17/47 eyes); and 3) persistence of type A with development of a flat, fibroatrophic lesion (13/47 eyes). Subretinal hyperreflective material, macular hemorrhage, or RPE tear occurred in 14 of 47, 13 of 47, and 10 of 47 eyes, respectively. CONCLUSION: This spectral-domain OCT analysis identified various patterns of macular fibrosis in eyes with nAMD. Three pathways of progression to fibrosis were described including the well-established pathway of type 2 CNV progression to FGL and the progression of type 1 fibrovascular CNV to FGL or fibroatrophic lesion.

Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis.

AIMS: To investigate the relationship between the ophthalmic and systemic phenotypes in patients with hereditary transthyretin amyloidosis with the S77Y mutation (ATTRS77Y). METHODS: In this cross-sectional study, patients with genetically confirmed ATTRS77Y amyloidosis were enrolled. All patients underwent complete neurological examination, including staging with the Neuropathy Impairment Score (NIS), Polyneuropathy Disability (PND) score; complete cardiological evaluation, including echocardiography, cardiac MRI and/or cardiac scintigraphy and complete ophthalmic evaluation, including slit lamp examination and fundus examination. Ocular ancillary tests (fluorescein and indocyanine green angiography, and anterior segment optical coherence tomography) were performed in cases with abnormal findings. The Kruskal-Wallis test was used for quantitative outcomes and Fisher's exact test for qualitative outcomes. Statistical significance was indicated by p<0.05 (two tailed). RESULTS: The study sample was composed of 24 ATTRS77Y patients. The mean patient age was 58.4±12.4 years. None of the patients presented with amyloid deposits in the anterior chamber, secondary glaucoma or vitreous amyloidosis. Retinal angiopathy was observed in four patients, complicated with retinal ischaemia in one patient. Conjunctival lymphangiectasia (CL) was detected in 13 patients (54%), associated with perilymphatic amyloid deposits. The presence of CL was statistically associated with more severe neurological disease (NIS=43.3±31.9 vs 18.9±20.4; PND=2.6±1.0 vs 1.4±0.7 in patients with and without CL, respectively; both p<0.05) and amyloid cardiomyopathy (p=0.002). CONCLUSION: In ATTRS77Y patients, CL is common and could serve as a potential biomarker for severe systemic disease. There were neither anterior chamber deposits, secondary glaucoma nor vitreous deposits in ATTRS77Y patients.

Sensitivity and Specificity of Ultrawide-Field Fundus Photography for the Staging of Sickle Cell Retinopathy in Real-Life Practice at Varying Expertise Level.

PURPOSE: To evaluate the sensitivity and specificity of ultrawide-field fundus photography (UWF-FP) for the detection and classification of sickle cell retinopathy (SCR) by ophthalmologists with varying degrees of expertise in retinal disease. METHODS: Patients presenting with sickle cell disease (SCD) in the Créteil University Eye Clinic, having undergone UWF-FP and ultrawide-field fluorescein angiography (UWF-FA) on the same day, were retrospectively included. Eyes with previous retinal photocoagulation were excluded. SCR was graded independently by UWF-FP and UWF-FA using Goldberg classification by two ophthalmologists with varying expertise levels. RESULTS: Sixty-six eyes of 33 patients were included in the study. The sensitivity of UWF-FP for the detection of proliferative SCR was 100%, (95% confidence interval [CI95%] 76.8-100) for the retinal specialist and 100% (CI95% 71.5-100) for the ophthalmology resident. The specificity of UWF-FP for the detection of proliferative SCR was 100% (CI95% 92.7-100) for the retinal specialist and 98.1% (CI95% 89.7-100) for the ophthalmology resident. CONCLUSIONS: UWF-FP is a valuable exam for proliferative SCR screening, with excellent sensitivity and specificity and a good inter-grader agreement for ophthalmologists with various degree of skills, and is easy to use in a real-life setting.