Risk factors associated with progression from papilloedema to optic atrophy: results from a cohort of 113 patients.

BACKGROUND: The aim of this study was to assess the risk factors for atrophic progression of patients with papilloedema secondary to intracranial hypertension, using optical coherence tomography parameters. METHODS: A retrospective study was conducted at Marseille University Hospitals' Ophthalmology departments between December 2015 and December 2021. All patients with papilloedema resulting from elevated intracranial hypertension at the initial presentation were included. Ophthalmological evaluations included analysing retinal nerve fibre layer (RNFL), ganglion cell layer (GCL) and total peripapillary retinal thickness (RT). RESULTS: The study included 222 eyes from 113 patients. The main aetiologies of intracranial hypertension were idiopathic intracranial hypertension (49/113), intracranial tumours (33/113) and cerebral venous thrombosis (15/113). The initial RNFL and RT showed significant correlations with optic atrophy. The mean RNFL was 199.63 µm in the 'no atrophy' group and 365.28 µm in the 'atrophy' group (p<0.001). Similarly, the mean RT was 483.72 µm in the 'non-atrophy' group and 796.69 µm in the 'atrophy' group (p<0.001). The presence of peripapillary haemorrhages showed a strong correlated with optic atrophy with an OR=19.12 (p<0.001). Impaired initial visual acuity was also associated with final optic atrophy with an OR=7.76 (p=0.020). Furthermore, impaired initial GCL was a major predictor of optic atrophy (OR=18.25 (p=0.021)). CONCLUSION: Our study highlights the risk factors for optic atrophy in papilloedema, aiming to facilitate the early detection of patients at a high risk of vision loss and enable more aggressive medical or surgical management.

Paracentral Acute Middle Maculopathy as a Specific Sign of Arteritic Anterior Ischemic Optic Neuropathy.

PURPOSE: The purpose of this study is to assess the diagnostic accuracy of paracentral acute middle maculopathy (PAMM) in the setting of anterior ischemic optic neuropathy (AION) to distinguish arteritic (A-AION) from nonarteritic (NA-AION) type. DESIGN: Retrospective cross-sectional diagnostic evaluation. METHODS: PAMM was evaluated by 3 physicians blinded to diagnosis using macular spectral-domain optical coherence tomography. We studied 45 patients with AION. Of those, 28 had NA-AION and 17 had A-AION. The study was conducted in the Department of Ophthalmology at the Hospital of Marseille-Assistance Publique, France, from January 1, 2018, to March 31, 2022. RESULTS: PAMM were only found in the A-AION group (N = 4) (P = .0143). As a distinctive sign of A-AION, we found a specificity of 100% (95% IC, 88.06%-100%) and a positive predictive value of 100%. In contrast, sensitivity and negative predictive value were lower, 19.1% (95% IC, 5.5-42.0) and 63.0% (95% CI, 58.1-67.7), respectively. CONCLUSIONS: The PAMM finding is highly specific for A-AION in the setting of AION. According to our results, macular spectral-domain optical coherence tomography looking for PAMM should be performed with any patient presenting with AION.

Bilateral acute retinal necrosis with encephalitis in a premature infant.

INTRODUCTION: Neonatal herpes infections can be extremely severe and their early recognition allows for appropriate management and increases the child's chances of survival. CASE DESCRIPTION: We report the case of a premature infant born by vaginal delivery and transferred to intensive care after neonatal misadaptation. Examination of the fundus revealed lesions of acute bilateral retinal necrosis, strongly suggesting a herpetic etiology. CONCLUSIONS: This case highlights the clinical benefit of an ophthalmologic exam in newborns with equivocal brain lesions. Herein, the fundus examination allowed for high suspicion of herpes virus infection.

PARACENTRAL ACUTE MIDDLE MACULOPATHY IN GIANT CELL ARTERITIS.

PURPOSE: To report the occurrence of paracentral acute middle maculopathy (PAMM) in giant cell arteritis (GCA), describe its features and outcomes, and identify risk factors associated with PAMM in patients with GCA. METHODS: Review of medical records of patients with GCA who were examined in the Rothschild Foundation Hospital. Patients were divided into three groups: GCA with PAMM (Group 1), GCA with ophthalmic involvement but without PAMM (Group 2), and GCA without ophthalmic involvement (Group 3). We analyzed the data for age, sex, medical history, laboratory testing, visual acuity, and posterior segment vascular involvement. RESULTS: Among the 96 patients who met the inclusion criteria, 52 had ophthalmic involvement, and 16 patients were included in Group 1 (GCA with PAMM). In this subgroup, the mean age was 81.6 years and was found to be older than other groups. The visual prognosis was similar between Groups 1 and 2. Of the 20 eyes with PAMM, 35% were also associated with homolateral anterior ischemic optic neuropathy. No statistical difference was found in initial symptoms, signs, and laboratory testing. CONCLUSION: Paracentral acute middle maculopathy is frequently observed lesions in ocular GCA. Patients can present with isolated findings of PAMM as the only indication of GCA. Optical coherence tomography of the macula should be routinely performed in patients with suspected GCA, specifically if they complain of visual changes, to look for signs of ischemia in the middle layers of the retina. Isolated PAMM should raise suspicion for GCA in patients at risk.

PARACENTRAL ACUTE MIDDLE MACULOPATHY (PAMM) IN GIANT CELL ARTERITIS.

PURPOSE: To describe a representative case and review the literature on paracentral acute middle maculopathy (PAMM) and giant cell arteritis (GCA). METHODS: A review of the English language ophthalmic literature was performed using the search terms of PAMM, giant cell arteritis, and temporal arteritis. RESULTS: We describe a 72-year-old woman with PAMM as the presenting ophthalmic manifestation of GCA with a review the prior cases from the literature. We found a total of 26 cases of PAMM in GCA. In 19 out of 26 cases PAMM was associated with no other fundus abnormalities and was only seen on multimodal imaging including OCT. CONCLUSION: PAMM can cause acute paracentral visual loss and GCA should be suspected in all cases of PAMM of the elderly, even when isolated and not associated with constitutional symptoms of GCA.

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Pathogenic variants in CRB1 lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we reappraise the phenotype-genotype correlation of 50 patients with regards to the recently identified CRB1 isoforms: a canonical long isoform A localized in Müller cells (12 exons) and a short isoform B predominant in photoreceptors (7 exons). Twenty-eight patients with early onset retinal dystrophy (EORD) consistently had a severe Müller impairment, with variable impact on the photoreceptors, regardless of isoform B expression. Among them, two patients expressing wild type isoform B carried one variant in exon 12, which specifically damaged intracellular protein interactions in Müller cells. Thirteen retinitis pigmentosa patients had mainly missense variants in laminin G-like domains and expressed at least 50% of isoform A. Eight patients with the c.498_506del variant had macular dystrophy. In one family homozygous for the c.1562C>T variant, the brother had EORD and the sister macular dystrophy. In contrast with the mouse model, these data highlight the key role of Müller cells in the severity of CRB1-related dystrophies in humans, which should be taken into consideration for future clinical trials.