"En Face" Spectral-Domain Optical Coherence Tomography versus Multifocal Electroretinogram in Hydroxychloroquine Retinopathy Screening.

INTRODUCTION: The performance of "en face" optical coherence tomography (OCT) in screening for chloroquine (CQ) or hydroxychloroquine (HCQ) retinopathy has not been largely explored. The aim of this study was to determine the concordance of "en face" OCT with multifocal electroretinography (mfERG) in screening for CQ/HCQ retinopathy. METHODS: This is a prospective cohort study conducted at the Rothschild Foundation Hospital, Paris, between August 2016 and February 2021. Patients taking HCQ were followed up over 2 consecutive years and received an "en face" OCT and a mfERG on each visit. RESULTS: A total of 91 patients (182 eyes) were analyzed. mfERG and "en face" OCT were concordant in 147 eyes (86.3%). Cohen's kappa coefficient for concordance between mfERG and "en face" OCT was considered weak with a value 0.61 (95% CI: 0.50-0.72). The sensitivity and specificity of "en face" OCT were 70% (95% CI: 59-79%) and 91% (95% CI: 83-96%), respectively, relatively to mfERG. Proportion of abnormal R2/R5 and R3/R5 ratios did not differ between patients with normal and abnormal "en face" OCT (p = 0.2). DISCUSSION: "En face" OCT and mfERG have low concordance and cannot be used interchangeably as each investigation evaluates a different facet of CQ/HCQ retinopathy. "En face" OCT could be used as a complement in screening for CQ/HCQ retinal toxicity if the anomalies detected on "en face" OCT are confirmed by B-scan OCT sections.

Did the COVID-19 Pandemic Increase the Incidence of Acute Macular Neuroretinopathy?

BACKGROUND: Acute macular neuroretinopathy (AMN) is an increasingly diagnosed disorder associated with several diseases. The aim of this study was to report the incidence of AMN cases diagnosed during the 2020 coronavirus disease 2019 (COVID-19) pandemic year in a French hospital, and to describe their different forms. METHODS: All patients diagnosed between 2019 and 2020, in Paris Rothschild Foundation Hospital, with AMN, paracentral acute middle maculopathy (PAMM) and multiple evanescent white dot syndrome (MEWDS) were retrospectively collected using the software Ophtalmoquery® (Corilus, V1.86.0018, 9050 Gand, Belgium). Systemic and ophthalmological data from AMN patients were analyzed. RESULTS: Eleven patients were diagnosed with AMN in 2020 vs. only one patient reported in 2019. The incidence of AMN significantly increased from 0.66/100,000 visits in 2019 to 8.97/100,000 visits in 2020 (p = 0.001), whereas the incidence of PAMM and MEWDS remained unchanged. Four (36%) of these AMN patients were tested for COVID-19 and received positive polymerase chain reaction (PCR) tests. CONCLUSIONS: The incidence of AMN cases increased significantly in our institution in 2020, which was the year of the COVID-19 pandemic. All AMN-tested patients received a positive COVID PCR test, suggesting a possible causative link. According to the different clinical presentations, AMN may reflect different severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pathogenic mechanisms.

Retinal and choroidal blood flow variations after an endurance exercise: A real-life pilot study at the Paris Marathon.

OBJECTIVES: To collect information about the retinal blood flow variations and other choroidal and retinal parameters during a prolonged effort such as marathon running. DESIGN: Non-randomized prospective cohort study. METHODS: Patients were recruited through an information campaign at the Rothschild Foundation Hospital (Paris, France). A first visit (V1) was planned in the month before the marathon. All participants underwent blood pressure measurement, fundus photography, spectral domain-optical coherence tomography (SD-OCT) and OCT-angiography (OCT-A). A second visit (V2) was scheduled within one hour of crossing the finish line. The same tests were repeated, using the same equipment. RESULTS: Of the 31 runners who were included, 29 finished the marathon and attended V2. At baseline, various ophthalmological abnormalities were found in 45.2% of the 58 eyes, among which almost a third concerned the optic nerve and a quarter the pachychoroid spectrum. A significant decrease in retinal vascular plexus density was found between V1 and V2 (p<0.01). While median macular and retinal nerve fiber layer (RNFL) thicknesses significantly increased after the marathon (p<0.01), median choroidal thickness significantly decreased (p<0.01). Both systolic and diastolic blood pressures significantly decreased (p<0.01 and p=0.021 respectively). CONCLUSIONS: Prolonged physical effort impacts the structure and vascularization of the retina and the choroid. Hypoxia and dehydration due to such an effort may induce a low ocular blood flow rate resulting in a choroidal thinning, contrasting with a transient subclinical ischemic edema of the inner retina and optic nerve head. CLINICAL TRIAL REGISTRATION NUMBER: NCT03864380.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Importance: Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. Objective: To define the spectrum of clinical phenotypes associated with mutations in RTN4IP1 encoding a mitochondrial quinone oxidoreductase. Design, Setting, and Participants: This study involved 12 individuals from 11 families with severe central nervous system diseases and optic atrophy. Targeted and whole-exome sequencing were performed-at Hospital Angers (France), Institute of Neurology Milan (Italy), Imagine Institute Paris (France), Helmoltz Zentrum of Munich (Germany), and Beijing Genomics Institute (China)-to clarify the molecular diagnosis of patients. Each patient's neurologic, ophthalmologic, magnetic resonance imaging, and biochemical features were investigated. This study was conducted from May 1, 2014, to June 30, 2016. Main Outcomes and Measures: Recessive mutations in RTN4IP1 were identified. Clinical presentations ranged from isolated optic atrophy to severe encephalopathies. Results: Of the 12 individuals in the study, 6 (50%) were male and 6 (50%) were female. They ranged in age from 5 months to 32 years. Of the 11 families, 6 (5 of whom were consanguineous) had a member or members who presented isolated optic atrophy with the already reported p.Arg103His or the novel p.Ile362Phe, p.Met43Ile, and p.Tyr51Cys amino acid changes. The 5 other families had a member or members who presented severe neurologic syndromes with a common core of symptoms, including optic atrophy, seizure, intellectual disability, growth retardation, and elevated lactate levels. Additional clinical features of those affected were deafness, abnormalities on magnetic resonance images of the brain, stridor, and abnormal electroencephalographic patterns, all of which eventually led to death before age 3 years. In these patients, novel and very rare homozygous and compound heterozygous mutations were identified that led to the absence of the protein and complex I disassembly as well as mild mitochondrial network fragmentation. Conclusions and Relevance: A broad clinical spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathies, is associated with RTN4IP1 biallelic mutations and should prompt RTN4IP1 screening in both syndromic neurologic presentations and nonsyndromic recessive optic neuropathies.