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Optic Atrophy (OA) can be associated with the development of microcystic macular edema (MME) in the perifoveal retinal inner nuclear layer (INL). We aimed here to retrospectively determine the prevalence of MME in patients with non-glaucomatous OA in our tertiary ophthalmology department between 2015 and 2020. We then examined how MME affected the thicknesses of the different retinal layers and the differences in demographic and clinical characteristics between those patients who developed MME and those who did not. A total of 643 eyes (429 patients) were included (mean age 45.9 ± 17.8 years, 52% female). MME developed in 95 (15%) eyes and across all etiologies of OA except for toxic/nutritional causes, but the prevalence of MME varied between the different etiologies. The development of MME was associated with thinning of the ganglion cell layer (11.0 vs. 9.6 μm; p = 0.001) and the retinal nerve fiber layer (10.1 vs. 9.15 μm; p = 0.024), with INL thickening in the 3- and 6-mm diameter areas of the central fovea. Patients developing MME had significantly worse distance best-corrected visual acuity than those not developing MME (0.62 vs. 0.38 logMAR; p = 0.002). Overall, the presence of MME in OA cannot be used to guide the diagnostic work-up of OA.

The association of early-onset non-progressive ataxia and miosis is an extremely rare phenotypic entity occasionally reported in the literature. To date, only one family (two siblings and their mother) has benefited from a genetic diagnosis by the identification of a missense heterozygous variant (p.Arg36Cys) in the ITPR1 gene. This gene encodes the inositol 1,4,5-trisphosphate receptor type 1, an intracellular channel that mediates calcium release from the endoplasmic reticulum. Deleterious variants in this gene are known to be associated with two types of spinocerebellar ataxia, SCA15 and SCA29, and with Gillespie syndrome that is associated with ataxia, partial iris hypoplasia, and intellectual disability. In this work, we describe a novel individual carrying a heterozygous missense variant (p.Arg36Pro) at the same position in the N-terminal suppressor domain of ITPR1 as the family previously reported, with the same phenotype associating early-onset non-progressive ataxia and miosis. This second report confirms the implication of ITPR1 in the miosis-ataxia syndrome and therefore broadens the clinical spectrum of the gene. Moreover, the high specificity of the phenotype makes it a recognizable syndrome of genetic origin., (© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Introduction: The aim of this work is to evaluate the real-world outcomes of the reinforced treat-and-extend (RTE) protocol for the treatment of exudative age-related macular degeneration with intravitreal injections of aflibercept or ranibizumab (anti-vascular endothelial growth factor therapies)., Methods: This was a retrospective review of patients from two tertiary ophthalmology centers in France initiating the RTE protocol between February 2018 and June 2021. The primary outcome was change in best-corrected visual acuity (BCVA) after 24 months. Secondary outcomes were change in central retinal thickness (CRT), recurrence, and management-related factors (injection interval, number of injections/consultations). Outcomes were additionally evaluated after protocol changes (strict versus modified RTE protocol groups)., Results: Sixty-eight patients (72 eyes) were included (68% females; mean age 82.2 ± 7.8 years). After 24 months, mean BCVA significantly improved (65.22 ± 14 vs. 71.96 ± 13 Early Treatment Diabetic Retinopathy Study letters; p < 0.001) and CRT significantly decreased (388.6 ± 104 vs. 278.8 ± 51 μM; p < 0.001) with 21% of eyes showing signs of exudation. Over the 24 months, a mean total of 14.9 ± 4.0 injections and 8.6 ± 1.4 consultations were performed. Mean 24-month injection interval was 7.9 ± 2.3 weeks. Initial and 24-month ophthalmic outcomes for eyes in the strict (47%) versus modified (53%) groups were not significantly different, but mean time interval to first recurrence of disease activity was significantly shorter for the modified group (7.3 ± 2.4 vs. 9.9 ± 2.5 weeks; p < 0.001). Patients in the strict RTE group received significantly less injections (13.9 ± 3.6 vs. 16.5 ± 3.9; p = 0.006) and mean 24-month injection interval was significantly longer (9.5 ± 2.7 vs. 6.5 ± 2.1 weeks; p < 0.001). Consultation number was similar (8.5 ± 1.9 vs. 8.8 ± 1.6; p = 0.93). Treatment with aflibercept versus ranibizumab did not influence ophthalmic or management outcomes., Conclusions: The RTE protocol, even when modified, reduced consultations but improved ophthalmic outcomes. The RTE protocol could reduce hospital visits and overall burden while also encouraging better patient compliance. Video Abstract available for this article., Video Abstract: Vincent Soler and François-Philippe Roubelat summarize the Reinforced Treat-and-Extend Protocol and main results (MP4 225022 KB)., (© 2024. The Author(s).)

After exposure to microgravity, astronauts undergo microgravity-induced thoraco-cephalic fluid shift, which may lead to ocular changes called "spaceflight associated neuro-ocular syndrome" (SANS). The onset of SANS may be multifactorial, including a potential elevation in intracranial pressure. Moreover, little is known about the impact of spaceflight on SANS in women due to the fact that fewer female astronauts have spent time in long-term missions. The objective is to determine whether similar ophthalmological changes occur in healthy women after short-term exposure to microgravity. The auto-refractometer was used to determine objective refraction. The best corrected distance visual acuity was assessed with a Monoyer chart. The ocular axial length was assessed using optical biometry. The applanation tonometry was used to determine intraocular pressure. Peripapillary retinal nerve fibre layer thickness (pRNFLT), macular total retinal thickness, and ganglion cell complex (GCC) were measured using optical coherence tomography. Ocular axial length is reduced after DI. pRNFL is thickest after DI specifically in the temporal, temporal-inferior, and nasal-inferior quadrants. Macular total retinal at the inferior quadrant of the 6-mm ring is thickest after DI. Global GCC is thinnest after DI. In this study, 5 days of DI induces slight but significant ophthalmological changes in women. However, these subtle changes do not correspond to criteria defined in SANS., (© 2024. The Author(s).)

Purpose: To review management, treatment, and outcomes of patients with necrotizing herpetic retinitis (NHR) to propose an algorithm for first-line management of NHR., Methods: Retrospective evaluation of a series of patients with NHR at our tertiary center between 2012 and 2021 using demographic, clinical, ophthalmologic, virological, therapeutic, and prognostic characteristics was performed. Patients were classified by NHR type: acute retinal necrosis (ARN), progressive outer retinal necrosis (PORN), cytomegalovirus (CMV) retinitis., Results: Forty-one patients with NHR were included: 59% with ARN, 7% with PORN, and 34% with CMV retinitis. All patients with CMV retinitis and PORN were immunocompromised versus 21% of patients with ARN. CMV infection was found in 14 (34%) patients, varicella zoster virus infection in 14 (34%) patients, herpes simplex virus type 2 infection in 8 (20%) and type 1 infection in 5 (12%) patients. Intravenous antiviral therapy was received by 98% of patients and intravitreal antiviral injections by 90% of patients. The overall complication rate during follow-up was 83% of eyes. Most frequent complications were retinal detachment (33% eyes) and retinal break (29% eyes). Prognostic factors for poor visual outcomes were pre-existing monocular vision loss in contralateral eye among 17% of patients, bilateral NHR in 17% of patients, posterior pole involvement in 46% of eyes, and involvement > 2 retinal quadrants in 46% of eyes., Conclusions: The visual prognosis of patients with NHR remains poor. Prompt investigation of immune status and presence of factors justifying intravitreal antiviral injections must be prioritized to initiate and adapt management while awaiting causative virus confirmation., (© 2023. The Author(s).)

Introduction: We conducted this study to assess the impact of the COVID-19 pandemic and the lockdown in France from March 17, 2020 to May 10, 2020, on the ophthalmic emergency department at Toulouse University Hospital, compared to the period from March 2 to March 16, 2020., Materials and Methods: This was a retrospective observational study, conducted in the ophthalmic emergency department of Toulouse University Hospital. We included the patients presenting to the emergency department from March 2 to May 10, 2020. We recorded age, sex, day of visit, time until care was received, past ocular history, outpatient or inpatient status, final diagnosis and its severity, outpatient or inpatient disposition, and medical or surgical treatment after the emergency department visit., Results: We found a substantial decrease in the number of patients per day, mostly during the first month of the lockdown: 44 patients per day before the lockdown compared to 23 patients per day during the first month, followed by 38 patients per day for the second month of lockdown; more patients visiting promptly; and elderly patients represented a higher proportion of patients., Conclusion: The first lockdown in France due to the COVID-19 pandemic had an impact on the Toulouse ophthalmic emergency department, especially concerning the number of patients per day; this study helps to assess individual behavior in this context of a public health crisis., (Copyright © 2022. Published by Elsevier Masson SAS.)

Objective: Post kala-azar dermal leishmaniasis (PKDL) is a rare complication of visceral leishmaniasis. We aimed at reporting PKDL cases in people living with HIV (PLHIV) and compare their characteristics based on whether PKDL occurred in the context of immune recovery under antiretroviral therapy (ART) or not., Design: National survey and literature review., Methods: We called for observations in France in October 2020 and performed a literature review from PubMed (Medline) and Web of Science up to December 2020. Two groups of patients were defined based on whether PKDL occurred in the context of immune recovery under ART (group 1) or not (group 2), and compared., Results: Three PLHIV with PKDL identified in France in the last decade were described and added to 33 cases from the literature. Compared with group 2 (16/36, 44.4%), patients from group 1 (20/36, 55.6%) originated more frequently from Europe (12/20, 60% vs. 2/16, 12.5%; P  = 0.0038), had higher median blood CD4 + cell counts (221/μl vs. 61/μl; P  = 0.0005) and increase under ART (122/μl, interquartile range 73-243 vs. 33/μl, interquartile range 0-53; P  = 0.0044), had less frequently concomitant visceral leishmaniasis (3/20, 15% vs. 8/12, 66.7%; P  = 0.006), and a trend to more frequent ocular involvement (7/20, 35% vs. 1/16, 6.25%; P  = 0.0531)., Conclusion: In PLHIV, PKDL occurs after a cured episode of visceral leishmaniasis as part of an immune restoration disease under ART, or concomitant to a visceral leishmaniasis relapse in a context of AIDS. For the latter, the denomination 'disseminated cutaneous lesions associated with visceral leishmaniasis' seems more accurate than PKDL., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Dominant Optic Atrophy (DOA) is one of the most common inherited mitochondrial diseases, leading to blindness. It is caused by the chronic degeneration of the retinal ganglion cells (RGCs) and their axons forming the optic nerve. Until now, DOA has been mainly associated with genes encoding proteins involved in mitochondrial network dynamics. Using next-generation and exome sequencing, we identified for the first time heterozygous PMPCA variants having a causative role in the pathology of late-onset primary DOA in five patients. PMPCA encodes an α subunit of the mitochondrial peptidase (MPP), responsible for the cleavage and maturation of the mitochondrial precursor proteins imported from the cytoplasm into mitochondria. Recently, PMPCA has been identified as the gene responsible for Autosomal Recessive Cerebellar Ataxia type 2 (SCAR2) and another severe recessive mitochondrial disease. In this study, four PMPCA variants were identified, two are frameshifts (c.309delA and c.820delG) classified as pathogenic and two are missenses (c.1363G>A and c.1547G>A) classified with uncertain pathological significance. Functional assays on patients’ fibroblasts show a hyperconnection of the mitochondrial network and revealed that frameshift variants reduced α-MPP levels, while not significantly affecting the respiratory machinery. These results suggest that alterations in mitochondrial peptidase function can affect the fusion-fission balance, a key element in maintaining the physiology of retinal ganglion cells, and consequently lead to their progressive degeneration.

Background: Leptomeningeal enhancement (LME) is a key feature of Susac syndrome (SuS) but is only occasionally depicted on post-contrast T1-weighted images (T1-WI)., Objective: As post-contrast fluid-attenuated inversion recovery (FLAIR) may be more sensitive, our aim was to assess LME in SuS on this sequence., Methods: From 2010 to 2020, 20 patients with definite SuS diagnosis were retrospectively enrolled in this multicentre study. Two radiologists independently assessed the number of LME on post-contrast FLAIR and T1-WI acquisitions performed before any treatment. A chi-square test was used to compare both sequences and the interrater agreement was calculated., Results: Thirty-five magnetic resonance imagings (MRIs) were performed before treatment, including 19 post-contrast FLAIR images in 17 patients and 25 post-contrast T1-WI in 19 patients. In terms of patients, LME was observed on all post-contrast FLAIR, contrary to post-contrast T1-WI (17/17 (100%) vs. 15/19 (79%), p  < 0.05). In terms of sequences, LME was observed on all post-contrast FLAIR, contrary to post-contrast T1-WI (19/19 (100%) vs. 16/25 (64%), p  < 0.005). LME was disseminated at both supratentorial (19/19) and infratentorial (18/19) levels on post-contrast FLAIR, contrary to post-contrast T1-WI (3/25 and 9/25, respectively). Interrater agreement was excellent for post-contrast FLAIR (κ = 0.95) but only moderate for post-contrast T1-WI (κ = 0.61)., Conclusion: LME was always observed and easily visible on post-contrast FLAIR images prior to SuS treatment. In association with other MRI features, it is highly indicative of SuS.

Introduction: We performed a prospective, single-center, cohort study in order to evaluate the effects of vitrectomy with epiretinal membrane (ERM) peel on optical quality in patients with primary ERM., Methods: Thirty patients treated for primary ERM by vitrectomy with ERM peel were included from our tertiary university hospital ophthalmology department. The main study outcome was a variation in optical quality parameters measured using the HD Analyzer™ between preoperative and 2-month postoperative evaluations in operated eyes. Optical quality parameters comprised point spread function (PSF) width at 10% and 50%, objective scatter index (OSI), and modulation transfer function (MTF) cutoff. Contralateral non-operated eyes were used as an internal control for measurement reproducibility., Results: Mean PSF width at 10% (42.22 vs. 27.37 arc/min; p = 0.0002) and mean OSI (3.32 vs. 2.32; p = 0.0003) were significantly improved between pre- versus postoperative evaluations. Mean PSF width at 50% and mean MTF cutoff showed no changes. Subgroup analysis according to crystalline lens status gave similar results, demonstrating that improvements in mean PSF width at 10% and OSI were not lens-related. Non-operated eyes showed no changes in any of the parameters analyzed., Conclusion: Reduced light scattering measured by OSI indicates improved optical quality following vitrectomy with ERM peel among patients with primary ERM. OSI measurement could thus be a new parameter of interest in the preoperative assessment of primary ERM and other pre-vitrectomy assessments., (© 2022 The Author(s). Published by S. Karger AG, Basel.)

Oxazepam, one of the most frequently prescribed anxiolytic drugs, is not completely removed from wastewater with conventional treatment processes. It can thus be found at trace levels in environmental water, with human urine constituting the major source of contamination. This study focused on the development and characterization of molecularly imprinted polymers (MIPs) for the selective solid-phase extraction of oxazepam at trace levels from environmental water and human urine samples. Two MIPs were synthesized, and their selectivity in pure organic and aqueous media were assayed. After optimizing the extraction procedure adapted to a large sample volume to reach a high enrichment factor, the most promising MIP was applied to the selective extraction of oxazepam from environmental water. Extraction recoveries of 83 ± 12, 92 ± 4 and 89 ± 10% were obtained using the MIP for tap, mineral and river water, respectively, while a recovery close to 40% was obtained on the corresponding non-imprinted polymer (NIP). Thanks to the high enrichment factors, a limit of quantification (LOQ) of 4.5 ng L -1 was obtained for river water. A selective extraction procedure was also developed for urine samples and gave rise to extraction recoveries close to 95% for the MIP and only 23% for the NIP. Using the MIP, a LOQ of 357 ng L -1 was obtained for oxazepam in urine. The use of the MIP also helped to limit the matrix effects encountered for the quantification of oxazepam in environmental samples and in human urine samples after extraction on an Oasis HLB sorbent., (© 2021. Springer-Verlag GmbH Germany, part of Springer Nature.)