Purpose To characterize the retinal phenotype of juvenile neuronal ceroid lipofuscinosis (JNCL), highlight delayed and mistaken diagnosis, and propose an algorithm for early identification. Design Retrospective case series. Participants Eight children (5 female) with JNCL. Methods Review of clinical notes, retinal imaging including fundus autofluorescence and OCT, electroretinography (ERG), and both microscopy and molecular genetic testing. Main Outcome Measurements Demographic data, signs and symptoms, visual acuity (VA), fundus autofluorescence and OCT findings, ERG phenotype, and microscopy/molecular genetics. Results Participants presented with rapid bilateral vision loss over 1 to 18 months, with mean VA deteriorating from 0.44 logarithm of the minimum angle of resolution (logMAR) (range, 0.20–1.78 logMAR) at baseline to 1.34 logMAR (0.30 logMAR - light perception) at last follow-up. Age of onset ranged from 3 to 7 years (mean, 5.3 years). The age at diagnosis of JNCL ranged from 7 to 10 years (mean, 8.3 years). Six children displayed eccentric fixation, and 6 children had cognitive or neurologic signs at the time of diagnosis (75%). Seven patients had bilateral bull’s-eye maculopathy at presentation. Coats-like exudative vasculopathy, not previously reported in JNCL, was observed in 1 patient. OCT imaging revealed near complete loss of outer retinal layers and marked atrophy of the nerve fiber and ganglion cell layers at the central macula. An electronegative ERG was present in 4 patients (50%), but with additional a-wave reduction, there was an undetectable ERG in the remaining 4 patients. Blood film microscopy revealed vacuolated lymphocytes, and electron microscopy showed lysosomal (fingerprint) inclusions in all 8 patients. Conclusions In a young child with bilateral rapidly progressive vision loss and macular disturbance, blood film microscopy to detect vacuolated lymphocytes is a rapid, readily accessible, and sensitive screening test for JNCL. Early suspicion of JNCL can be aided by detailed directed history and high-resolution retinal imaging, with subsequent targeted microscopy/genetic testing. Early diagnosis is critical to ensure appropriate management, counseling, support, and social care for children and their families. Furthermore, although potential therapies for this group of disorders are in early-phase clinical trial, realistic expectations are that successful intervention will be most effective when initiated at the earliest stage of disease.

The scientific literature reveals a surprising lack of knowledge of chronic pain mechanisms and its management amongst health care professionals, including physicians and physiotherapists. There is little information directly related to a comparison between medical and physiotherapy students' knowledge of chronic pain. This study aimed to determine and compare the level of knowledge of chronic pain and its management between final year medical (n=126) and physiotherapy students (n=62). A chronic pain questionnaire which included two sections on knowledge and one section on management was used to gather quantitative and qualitative data. Final year physiotherapy students were found to have statistically greater knowledge of chronic pain than final year medical students (p=0.01 and p=0.002). In contrast, medical students were found to have statistically significantly greater understanding of the management of patients with chronic pain (p=0.001). Male students from both groups scored significantly higher in the management section (p=0.008) as did older students (p=0.01). There was a lack of understanding, in varying degrees, of central sensitization, opioid addition, fear-avoidance and a number of students from both cohorts appeared to bring a curative focus to the treatment of chronic pain. One way forward could be found in the interprofessional agenda. This will offer students from different disciplines opportunities to understand their different roles and enhance each others' learning base so that a biopsychosocial framework of care can be implemented. In this way, physiotherapists could learn more about the drug management of chronic pain and medical students could explore more collaborative patient-centred paradigms that address issues such as self-efficacy, self-management and patient empowerment. More focus needs to be paid to the education of the health professionals regarding their assumptions and understanding what 'vulnerable' means in a tissue in comparison to a person.