The British journal of ophthalmology
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Uveal melanoma (UM) is the most common primary cancer of the eye in adults. About half of the patients are at risk of developing metastatic disease resulting in a poor clinical prognosis. Metastatic progression is strongly associated with loss of one chromosome 3 in the tumour (monosomy 3). The tumour suppressor gene BAP1 was found to be recurrently mutated in UM with monosomy 3. Familial UM is rare and amounts to about 0.6-6% of all patients with melanoma. However, BAP1 germline mutations have been identified in rare hereditary tumour syndromes, including cases with UM. One may assume that UM may be part of these hereditary conditions with predisposition to malignant cancers. ⋯ [corrected] We detected a cosegregating BAP1 germline mutation in two family members with UM. This suggests that, consistent with a classic tumour suppressor model, carriers of damaging mutations in BAP1 are predisposed to UM. However, as BAP1 germline mutations have been found to cause other cancer syndromes as well, there must be other factors that decide about the type of tumour emerging from BAP1 inactivation.
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Randomized Controlled Trial
Defocus Incorporated Soft Contact (DISC) lens slows myopia progression in Hong Kong Chinese schoolchildren: a 2-year randomised clinical trial.
To determine if 'Defocus Incorporated Soft Contact' (DISC) lens wear slows childhood myopia progression. ⋯ The daily wearing of DISC lens significantly slowed myopia progression and axial elongation in Hong Kong schoolchildren. The findings demonstrated that simultaneous clear vision with constant myopic defocus can retard myopia progression.
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To evaluate the diagnostic accuracy of methylene blue used as a non-invasive in vivo stain to detect ocular surface squamous neoplasia (OSSN). ⋯ The topical application of methylene blue is a simple, inexpensive, non-invasive diagnostic test that can be helpful in excluding malignant ocular surface lesions but cannot replace histology as gold standard for diagnosis of OSSN.
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To identify patient-reported outcome measures (PROMs) specifically developed and used to assess the impact of ophthalmic disorders in children and to systematically assess their quality as a basis for recommendations about their use in clinical and research settings. ⋯ Paediatric ophthalmology PROM development and application is a developing field and new instruments are needed. There is scope for improvement in this area through (a) clarity of definitions of the underlying constructs intended to be measured at the onset of development of new instruments, (b) application of child-centred approaches and (c) adherence to extant guidance and best practice in questionnaire instrument development.
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Comparative Study
Utilisation of an outpatient sedation unit in paediatric ophthalmology: safety and effectiveness of chloral hydrate in 1509 sedation episodes.
To report the largest study on the safety and effectiveness of sedation in paediatric ophthalmology in a nurse-led outpatient sedation unit. ⋯ CH sedation allows detailed examination and investigations in the majority of children with few side effects. Patients over 15 kg and need for a top up dose are risk factors for failure and adverse events. This is the largest study in the current literature looking at the use of CH sedation in ophthalmology and confirms its safety and effectiveness.