Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.

BACKGROUND: Optic neuropathy is a near ubiquitous feature of Friedreich's ataxia (FRDA). Previous studies have examined varying aspects of the anterior and posterior visual pathways but none so far have comprehensively evaluated the heterogeneity of degeneration across different areas of the retina, changes to the macula layers and combined these with volumetric MRI studies of the visual cortex and frataxin level. METHODS: We investigated 62 genetically confirmed FRDA patients using an integrated approach as part of an observational cohort study. We included measurement of frataxin protein levels, clinical evaluation of visual and neurological function, optical coherence tomography to determine retinal nerve fibre layer thickness and macular layer volume and volumetric brain MRI. RESULTS: We demonstrate that frataxin level correlates with peripapillary retinal nerve fibre layer thickness and that retinal sectors differ in their degree of degeneration. We also shown that retinal nerve fibre layer is thinner in FRDA patients than controls and that this thinning is influenced by the AAO and GAA1. Furthermore we show that the ganglion cell and inner plexiform layers are affected in FRDA. Our MRI data indicate that there are borderline correlations between retinal layers and areas of the cortex involved in visual processing. CONCLUSION: Our study demonstrates the uneven distribution of the axonopathy in the retinal nerve fibre layer and highlight the relative sparing of the papillomacular bundle and temporal sectors. We show that thinning of the retinal nerve fibre layer is associated with frataxin levels, supporting the use the two biomarkers in future clinical trials design. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Outpatient Ultra wide-field intravenous fundus fluorescein angiography in infants using the Optos P200MA scanning laser ophthalmoscope.

PURPOSE: To determine the feasibility of Ultra wide-field intravenous fundus fluorescein angiography (UWF-IV-FFA) in infants. METHODS: A retrospective review of infants who underwent UWF-IV-FFA with the Optos P200MA was performed. The ability to capture different phases of the angiogram, the total image acquisition time and the presence of image artefacts were analysed. RESULTS: Twelve infants with a variety of proliferative retinopathies underwent UWF-IV-FFA over a 7-month period. The mean age was 3.4 months (range 2-6 months) and the mean image acquisition time was 4 min (range 3-5). Pseudocolour fundus images and the venous, recirculation and late phases of UWF-IV-FFA were captured successfully in all infants (100%). Choroidal and arterial phases were captured in one (8.3%) and 10 (83.3%) infants, respectively. Image artefacts due to eyelashes and corneal desiccation occurred in nine (75%) and six (50%) infants, respectively. No adverse medical problems were noted. CONCLUSIONS: We have shown that UWF-IV-FFA can be successfully and safely performed in infants using the Optos P200MA system. It is a feasible new alternative to RetCam for obtaining an IV-FFA in the outpatients setting.

Linkage to methadone treatment from acute opiate detoxification treatment.

Methadone maintenance treatment (MMT) is a safe pharmacological treatment strategy for addiction to heroin and other opiates; however, linking individuals to MMT is often challenging. We present results from a pilot project (Project VISTA)funded by the Center for Substance Abuse Treatment that helps heroin-dependent injection drug users (IDUs) transition from acute heroin detoxification to MMT. Participants are referred to Project VISTA by the state detoxification center, and Project VISTA facilitates entry into an MMT program, providing full financial support for up to 24 weeks. In addition, Project VISTA provides case management and referral to ancillary services such as housing, other medical care, and mental health treatment. From May 2005 to May 2006, 60 individuals were enrolled in Project VISTA. A total of 41 participants., (69.5 percent) remained in treatment for at least 24 weeks, with a mean number of weeks in treatment of 31. A Kaplan-Meier analysis was performed on all participants, and the incidence of individuals being discharged from treatment was 2 percent per week. Project VISTA, in cooperation with the state detoxification center and a Providence-based MMT program, has created a model that provides continuity of treatment services to high-risk, HIV-negative IDUs. Our model demonstrates that through facilitating the transition from an opiate detoxification program into an MMT program, individuals with chronic heroin addiction can successfully access and engage in treatment.