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The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ) is an emerging longitudinal study of a large New Zealand pedigree with genetic frontotemporal dementia (FTD). Natural history studies of genetic FTD cohorts provide a unique opportunity to identify biomarkers of pre-symptomatic dementia, as carriers can be identified and studied decades before expected symptom onset. FTDGeNZ was established in 2016 with the aim of identifying the earliest pre-symptomatic biomarkers of FTD, in collaboration with international multi-centre cohorts. We enrolled 25 participants from a single family between April 2016 and August 2018. Participants were genotyped to determine whether they were pre-symptomatic carriers of the mutation (MAPT IVS 10 + 16 C > T), or non-carrier controls. Participants have undergone clinical assessments including neuropsychological and mood assessment; olfactory testing; assessment of social cognition; and blood collection for analyses of microRNA and protein fluid biomarkers annually. We have also performed structural and functional MRI of the brain and assessment of autobiographical memory biennially, and retinal imaging at baseline. Here, we describe the full study protocol and the baseline demographic and clinical characteristics of the FTDGeNZ cohort, and we highlight the latest findings in the field. [ABSTRACT FROM AUTHOR]

Children with a history of regressed retinopathy of prematurity (ROP) are at increased risk of peripheral avascular retina. Wide-field digital retinal imaging and telemedicine is an effective tool for ROP screening. Ophthalmologists and Optometrists should have a high level of clinical suspicion for peripheral retinal changes in children screened for ROP. Retinopathy of prematurity, a vaso-proliferative disorder of the pre-term retina, is a preventable cause of childhood visual impairment. The Auckland Regional Telemedicine ROP (ART-ROP) network, established in 2006, utilises wide-field digital imaging and telemedicine to screen at-risk infants for ROP. This prospective observational study reports the long-term ocular outcomes of ART-ROP network infants. A comprehensive paediatric eye examination including cycloplegic autorefraction and wide-field retinal imaging was completed on all participants. Participants had been screened for ROP by the ART-ROP network between May 2008 and October 2011. A total of 69 children, with a mean age of 5 to 8 years old were assessed and divided into two groups: those with or without a history of ROP, 44 and 25 children, respectively. Infants with a history of ROP had significantly lower gestational age (26.6 ± 1.9 vs. 29.1 ± 1.6 weeks, p < 0.001) and birth weight (937 ± 237 vs. 1177 ± 311 grams, p = 0.001). No significant differences were detected between the two groups for visual acuity (p = 0.596), stereopsis (p = 0.219), refractive error (p = 0.472), or strabismus. Clinically significant refractive error was noted in 10 participants; none with moderate or high myopia. Retinal imaging exposed asymptomatic, persistent, peripheral avascular retina in four children, all of whom had a history of regressed ROP. Visual and ocular outcomes did not vary based on history of ROP, with no participant having reduced vision as a result of undetected or untreated ROP. Further research is required into the long-term implication of persistent avascular retina in regressed ROP. [ABSTRACT FROM AUTHOR]