Inherited optic neuropathy is a rare cause of debilitating vision loss. It may occur in constellation with other syndromic features of neurological impairment, or present as an isolated finding. We describe a sibling pair, without a family history of vision loss, who developed visual impairment in early childhood consistent with optic neuropathy. Genetic testing identified novel compound heterozygous variants in the aconitase 2 (ACO2) gene. To date, seven families hosting ACO2 variants have been described in the literature. We describe the second family with ACO2 variants to have an isolated optic neuropathy highlighting the importance of including this gene in genomic panels assessing inherited optic neuropathies.
Objective: Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) is a novel steroid sensitive autoimmune disease, without a diagnostic consensus. The purpose of this study was to improve early GFAP-A diagnosis by increasing awareness of key clinical characteristics and imaging manifestations.
Methods: Medical records of 13 patients with anti-GFAP antibodies in serum or cerebrospinal fluid (CSF) were reviewed for cross-sectional and longitudinal analysis of clinical and magnetic resonance imaging (MRI) findings.
Paraneoplastic retinopathy (PR) is a rare autoimmune condition typically associated with progressive visual loss and is often linked to anti-recoverin antibodies. Paraneoplastic optic neuropathy (PON) is classically associated with collapsin response-mediator protein (CRMP-5). We present a unique case of non-progressive CRMP-5-associated perifoveal retinitis in a 79-year-old female with a history of breast carcinoma, who has maintained a stable visual acuity over an extended follow-up period of three years.
Purpose: Our aim is to evaluate the sensitivity and specificity of Acuity 360 telemedicine system, as compared to in-person clinic examination, in identifying clinically significant eye disease. Acuity 360 is a combination of commercially available ocular imaging devices used together to provide a comprehensive evaluation of the structures and diseases of the eye.
Methods: Observational cross-sectional study of consecutively examined patients where 19 remote examiners analyzed 80 patients using Acuity 360 images.
Exploration de la Vision et Neuro-Ophtalmologie (RF, VS), CHU de Lille, Lille, France; and University of Lille (QL, VS, MB), INSERM, CNRS, UMR-S 1172-Lab, Lille Neuroscience & Cognition, Lille, France.
Background: Most of the data on visual functions in Leber hereditary optic neuropathy (LHON) is based on patient questionnaires. Our study assessed the impact of LHON on visual function by testing facial recognition and execution of purposeful actions.
Methods: Twelve participants with LHON with central scotoma ranging from 5° to 20° and 12 unaffected age-matched controls were involved in our study.
Purpose: To assess the potential influence of serum biochemical factors, specifically lipid profile parameters, on visual outcomes in patients with non-arteritic anterior ischemic optic neuropathy (NAION).
Patients And Methods: All patients diagnosed with NAION at Rajavithi Hospital between 1 January 2011 and 31 December 2020 were retrospectively reviewed. The primary outcome was defined as visual recovery, measured by an improvement of at least 0.
