Multifocal electroretinography (mfERG) provides functional and objective evidence of retinal dysfunction. We have found mfERG to be especially useful in the management of occult outer retinopathy and Stargardt’s disease.

Rett syndrome (RS) is a neurodevelopmental disorder that exclusively affects girls, and occurs along with autism. It is very uncommon, and has five distinct forms, one classic and the others atypical, which generally compromise manual skills, language, and mobility, and widely associated with the appearance of stereotypy and early epilepsy. With the aim of updating the information about RS, a search was performed in the computer data bases of PubMed, Hinari, SCIELO and Medline, as well as consulting other web sites including OMIM, ORPHANET, GeneMap, Genetests, Proteins and Gene, using the descriptors "Síndrome de Rett", "genes y Síndrome de Rett", "Rett Syndrome gene", "Rett Syndrome", "Rett Syndrome gene therapy", and "Rett Syndrome review". Of the 1,348 articles found, 42 articles were selected, which reported 3 genes causing the syndrome: MECP2, CDKL5 and FOXG. The MECP2 gene is mutated in 80% of patients with classic RS, as well as in 40% of those affected by any of its atypical forms. RS with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 genes, respectively. The diagnosis of RS is based on clinical criteria. However, the advances in molecular biology and genetics have opened a wide range of possibilities for diagnosing the different clinical forms that could not be classified before. Molecular analysis can help confirm the clinical criteria and provided information as regards the prognosis of the patient.

Background: This study evaluates the feasibility and acceptability of a virtual reality platform (VRP) for home monitoring of visual function in patients with neuro-ophthalmic conditions. Methods: Fifteen patients with nonarteritic anterior ischemic optic neuropathy (NAAION), optic neuritis, or papilledema were enrolled and monitored remotely over 12 weeks. Visual acuity, color vision, and visual field testing were collected 3 times per week using the VRP. Compliance and satisfaction levels were analyzed. Results: A total of 21 eyes were included (38.1% NAAION, 42.9% optic neuritis, 19% papilledema). Most participants (71.4%) found weekly VRP use easy, and all felt confident using it at home. While 86% reported no technical issues, 21%–28% experienced transient symptoms such as blurred vision or dizziness. Compliance was highest in the NAAION group, with 75% completing the full 12-week period. In the optic neuritis group, 55.6% remained after Week 1 and 44.4% continued through Week 8. The papilledema group discontinued by Week 4. Main reasons for discontinuation included time constraints, scheduling conflicts, and stable vision after improvement. In general, visual acuity and visual field indices (mean deviation and pattern SD [PSD]) showed no significant changes over time, confirming good VRP’S reproducibility for home monitoring. This VRP also detected cases of visual function worsening, enabling earlier rescheduling of clinical appointments. Conclusion: The VRP is a feasible and well-accepted tool for home-based visual monitoring in neuro-ophthalmic patients as an alternative to in-person eye examinations. This approach enables early detection of changes and can improve long-term management.

Background: Retinal and optic nerve disorders remain major causes of visual morbidity worldwide. Ocular fundus flavoprotein fluorescence (FPF) imaging has emerged as a potential noninvasive biomarker of mitochondrial dysfunction for earlier detection and evaluation of disease severity. Methods: We conducted a Systematic Scoping Review of the diagnostic and correlational utility of quantitative FPF parameters in retinal and optic nerve diseases compared with healthy controls. Following PRISMA-ScR guidelines, we searched MEDLINE, Web of Science, Scopus, and CENTRAL for peer-reviewed human studies available online before 31 December 2025. Results: Seventeen studies were included, encompassing 1914 eyes and 1339 participants, and were predominantly cross-sectional. In healthy eyes, mean macular and optic nerve head FPF intensity were reported as 24.1 ± 12.2 gsu and 30.6 ± 14.6 gsu, respectively. Higher signals were reported in several disorders, including diabetes mellitus (76.0 [67.0–92.0] gsu), neovascular age-related macular degeneration (67.47 ± 17.77 gsu), and retinitis pigmentosa (50.5 ± 12.2 gsu). However, lower, unchanged, or stage-dependent signals were also observed within the same disease categories. Interpretation across studies was limited by substantial heterogeneity in patient selection, disease definitions, imaging protocols, control groups, and FPF outcome metrics. The precise cellular and sublayer origin of the detected signal also remains challenging to determine. Conclusions: Ocular fundus FPF imaging provides promising metabolic insight into retinal and optic nerve diseases. However, current evidence remains heterogeneous and largely cross-sectional, limiting clinical interpretability and generalizability. Longitudinal studies, technical standardization, and multimodal integration are needed to define reproducible disease-specific FPF profiles and improve translational applicability.

Following the epidemic of optic and peripheral neuropathy, which occurred in Cuba between 1991 and 1993, a number of patients have been re-evaluated, including testing with optical coherence tomography (OCT) and electrophysiology. At the same time, a number of patients with Leber’s hereditary optic neuropathy have also been evaluated. The purpose of this study was to detect residual loss of retinal nerve fibre layer (RNFL) in patients who suffered Cuban epidemic optic neuropathy (CEON), and to compare these findings with those in patients with Leber’s hereditary optic neuropathy (LHON). Optical coherence tomography as well as clinical examinations were performed on 11 patients diagnosed with CEON 15 years following the epidemic and 14 patients with LHON. OCT in CEON patients showed thinning of the RNFL in the temporal sector and normal thickness in other quadrants. However, patients with chronic LHON had more diffuse RNFL loss throughout the retina. OCT findings corresponded with clinical findings in CEON and LHON. There was drop out of the papillomacular bundle in both diseases. Two patients in the acute stages of LHON and three LHON carriers showed thinning of the temporal RNFL only. This is the first report of OCT in CEON that shows residual damage in the papillomacular bundle compared with chronic LHON where there is more diffuse and progressive loss of the RNFL. The importance of OCT for the diagnosis and evaluation of similar optic neuropathies is emphasised.

Purpose: This study aimed to compare the AI-assisted Virtual Reality Platform (VRP) with technician-assisted exams for assessing visual acuity, color vision (CV), and visual field (VF) in a neuro-ophthalmology clinic. Methods: A comparative, cross-sectional study including 59 adult patients was performed in the neuro-ophthalmology clinic at Bascom Palmer Eye Institute. The Snellen chart for visual acuity, Ishihara testing, and the SITA or AVA Fast strategy for VF testing were used in both the VRP and technician-based examinations. Best corrected visual acuity (BCVA), CV results, mean deviation (MD), pattern standard deviation (PSD), and reliability indices were collected. Results: The study included 118 eyes with a mean age of 47.2 ± 18.8 (71.19% female). Significant positive correlations were found between the VRP and technician-based examination for BCVA ( r = .641, P <.001) and CV ( r = .824, P <.001). Bland-Altman analysis showed good agreement between VRP and the traditional exams for BCVA (mean bias 0.09 ± 0.25, limits of agreement (LOA): [0.58] to [-0.40]) and CV (mean bias 0.07 ± 0.11. LOA: [0.29] to [-0.16]). The MD and PSD of the VRP were significantly correlated with the standard Humphrey Visual Field (HVF) exam (MD: r = .91, P <.001; PSD: r = .88, P <.001). Bland-Altman analysis revealed a mean bias of -0.71 ± 2.81 for MD and − 0.90 ± 2.08 for PSD. The VRP reduced test duration (124.31 ± 0.35 s) compared to the standard exam (256.8 ± 7.1 s, P <.0001). Conclusions: The VisuALL VRP, a compact portable device, effectively provides results comparable to technician-based assessments in neuro-ophthalmological patients while reducing test duration and improving clinical workflow.