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8% of diagnosed individuals.

Panel/exome sequencing displayed the highest yield and should be considered as first-tier diagnostics in NDDE. Proteases chemical This high yield and the numerous indications for additional screening or treatment modifications arising from genetic diagnoses indicate a current medical undersupply of genetically undiagnosed adult/elderly individuals with NDDE. Moreover, knowledge of the course of elderly individuals will ultimately help in counseling newly diagnosed individuals with NDDE.

Panel/exome sequencing displayed the highest yield and should be considered as first-tier diagnostics in NDDE. This high yield and the numerous indications for additional screening or treatment modifications arising from genetic diagnoses indicate a current medical undersupply of genetically undiagnosed adult/elderly individuals with NDDE. Moreover, knowledge of the course of elderly individuals will ultimately help in counseling newly diagnosed individuals with NDDE.

REALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON).

Demographics and visual function data were collected from medical charts of LHON patients with visual loss. The study was conducted in 11 study centres in the United Statesof America and Europe. The collection period extended from the presymptomatic stage to at least more than one year after onset of vision loss (chronic stage). A Locally Weighted Scatterplot Smoothing (LOWESS) local regression model was used to analyse the evolution of best-corrected visual acuity (BCVA) over time.

44 LHON patients were included; 27 (61%) carried the m.11778G>A ND4 mutation, 8 (18%) carried the m.3460G>A ND1 mutation, and 9 (20%) carried the m.14484T>C ND6 mutation. Fourteen (32%) patients were under 18 years old at onset of vision loss and 5 (11%) were below the age of 12. The average duration of follow-up was 32.5 months after onset of symptoms. At the last observed measure, mean BCVA was 1.46 LogMAR in ND4 patients, 1.52 LogMAR in ND1 patients, and 0.97 LogMAR in ND6 patients. The worst visual outcomes were reported in ND4 patients aged at least 15years old at onset, with a mean BCVA of 1.55 LogMAR and no tendency for spontaneous recovery. The LOESS modelling curve depicted a severe and permanent deterioration of BCVA.

Amongst LHON patients with the three primary mtDNA mutations, adult patients with the m.11778G>A ND4 mutation had the worst visual outcomes, consistent with prior reports.

A ND4 mutation had the worst visual outcomes, consistent with prior reports.

To evaluate the use of optical coherence tomography angiography (OCTA), structural OCT and fundus fluorescein angiography (FFA) to distinguish neovascularisation elsewhere (NVE) from intra retinal microvascular abnormalities (IRMA) and their use in early detection and possible risk assessment for vitreous haemorrhage.

A cross-sectional study of a consecutive series of patients with suspected NVE and IRMA using clinical examination and FFA, were examined further with OCT and OCTA. Treated and untreated eyes were also compared.

Images from 33 eyes of 26 patients, showed 27 NVE and 14 IRMA lesions based on clinical examination +/- FFA. Lesions were re-classified as NVE in 22 eyes. Ten eyes had received past treatment. In all 10 treated eyes, vascular flow and vitreous connection were found but not FFA leakage. In 18/22 eyes with NVE there was a breach of the internal limiting membrane (ILM), in 4 eyes there was FFA leak, ILM outpouching but no breach. In two eyes, NVE originated from sea fan IRMA. Ten eyes images were classified as IRMA only with no FFA leak, or ILM breach. The relation of pre-retinal NVE to the vitreous can be visualised.

Lesions, considered to be NVE, after further assessment with OCT and OCTA, can be intra-retinal, with ILM disruption but no ILM breach and leakage on FFA. ILM disruption maybe one of the earliest signs of the development of neovascularisation. Visualisation of the relation to the posterior vitreous is likely to be useful in assessing risk of vitreous haemorrhage.

Lesions, considered to be NVE, after further assessment with OCT and OCTA, can be intra-retinal, with ILM disruption but no ILM breach and leakage on FFA. ILM disruption maybe one of the earliest signs of the development of neovascularisation. Visualisation of the relation to the posterior vitreous is likely to be useful in assessing risk of vitreous haemorrhage.

To determine the near-term risk of stroke following a retinal artery occlusion (RAO).

The risk of stroke was assessed in two manners; with a self-controlled case series (SCCS) and a propensity score (PS) matched cohort study using a US medical claims database. The date of RAO diagnosis was assigned as the index date. In the SCCS, incidence of stroke was compared in 30- and 7-day periods pre- and post-index date. In PS analysis, matched cohorts were created from patients with RAO or hip fracture. Cox proportional hazard regression assessed the hazard for stroke. Patients were censored at 1 year, upon leaving the insurance plan or if they had a qualifying event for the comparison group.

The SCCS included 16,193 patients with RAO. The incidence rate ratio (IRR) of new stroke in the month after RAO was increased compared to all periods >2 months before and all months after the index date (IRRs 1.68-6.40, p < 0.012). Risk was increased in the week immediately following the index date compared to most weeks starting 2 weeks prior to and all weeks immediately after the index date (IRRs 1.93-29.00, p < 0.026). The PS study analysed 18,213 propensity-matched patients with RAO vs. hip fracture. The HR for having a stroke after RAO compared to a hip fracture was elevated in all analyses (All RAO HR 2.97, 95% CI 2.71-3.26, p < 0.001; CRAO HR 3.24, 95% CI 2.83-3.70, p < 0.001; BRAO HR 2.76, 95% CI 2.43-3.13, p < 0.001).

The highest risk for stroke occurs in the days following a CRAO or BRAO, supporting guidelines suggesting immediate referral to a stroke centre upon diagnosis.

The highest risk for stroke occurs in the days following a CRAO or BRAO, supporting guidelines suggesting immediate referral to a stroke centre upon diagnosis.