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Background The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across Canada. As clinical laboratories adopt modern genomics technologies, the need for this type of collaborative framework is increasingly important. Methods A survey to assess existing protocols for variant classification and reporting was delivered to clinical genetics laboratories across Canada. Based on feedback from this survey, a variant assessment tool was made available to all laboratories. Each participating laboratory was provided with an instance of GeneInsight, a software featuring versioning and approval processes for variant assessments and interpretations and allowing for variant data to be shared between instances. Guidelines were established for sharing data among clinical laboratories and in the final outreach phase, data will be made readily available to patient advocacy groups for general use. Results The survey demonstrated the need for improved standardisation and data sharing across the country. A variant assessment template was made available to the community to aid with standardisation. Instances of the GeneInsight tool were provided to clinical diagnostic laboratories across Canada for the purpose of uploading, transferring, accessing and sharing variant data. Conclusions As an ongoing endeavour and a permanent resource, the Canadian Open Genetics Repository aims to serve as a focal point for the collaboration of Canadian laboratories with other countries in the development of tools that take full advantage of laboratory data in diagnosing, managing and treating genetic diseases.

At St Mary’s, Robert Benjamin Cheetham (“Rob”) was extremely popular—an exceptionally bright and efficient student with an infectious enthusiasm for life and a unique sense of humour. He was the key contributor to the winning St Mary’s team at the 1990 British Medical Schools Rugby 7s tournament and the most naturally talented athlete of …

A 45-year-old white woman had phacoemulsification with intraocular lens (IOL) implantation. The surgery was routine except for a linear tear in the posterior capsule; there was no disruption of the anterior vitreous face. After residual soft lens matter was removed, an AcrySof IOL was placed in the ciliary sulcus. One month postoperatively, the patient presented with an intraocular pressure (IOP) of 30 mm Hg and signs of pigment dispersion with 360 degrees of heavy pigmentation of the trabecular meshwork and iris transillumination defects. Intraocular pressure was controlled with a topical beta-blocker. The optic disc appearance and visual field remained normal, but the uniocular hyperpigmentation of the trabecular meshwork was still present. We hypothesize that the sharp square edge of the AcrySof IOL increases the risk of a chafing effect on the posterior iris pigment and advocate that this IOL be placed in the capsular bag and ideally have 360 degrees of protective overlapping of the anterior capsule over the edge of the optic.

Purpose To study changes in intraocular pressure (IOP) in children while under general anesthesia before and after laryngeal mask airway (LMA) insertion. Design Prospective, comparative study. Method IOP was measured in children after induction and one minute after LMA insertion. Children younger than 16 years who were scheduled to undergo elective ophthalmic surgery while receiving a general anesthetic were included. Children with a history of glaucoma or previous intraocular surgery were excluded. Data were collected on the age of the child, IOP, heart rate (HR), end tidal CO 2 , and blood pressure (BP) before and after LMA insertion. Results Sixty-six children with a mean age of 5.5 ± 3.6 years (range, four months to 16 years) were included in the study. The mean IOP was 13.6 ± 3.9 mm Hg and 13.6 ± 3.6 mm Hg in right and left eyes, respectively, before LMA insertion and 15.5 ± 3.8 mm Hg and 15.2 ± 3.8 mm Hg in right and left eyes, respectively, after LMA insertion ( P = .001). A decrease in BP was significantly associated with an increase in IOP ( P = .008), and the interaction between the change in the BP, HR, and CO 2 affected the change in IOP measured after insertion of the LMA ( P = .04). There was no correlation between the age of the child and the change in IOP measured after insertion of the LMA. Conclusions In our study, a small but significantly higher IOP was found after LMA insertion than before. It is recommended that the measurement of IOP in children receiving a general anesthetic is carried out before the insertion of the LMA.

Editor,—Orbital haemorrhage occurs most commonly following trauma, retrobulbar injection, or orbital surgery. Spontaneous orbital haemorrhage is a rare condition usually associated with vascular anomalies, lymphangiomas, or systemic haematological disorders.1-3 Rarely, it has been reported in pregnant females being treated with subcutaneous heparin.4 In this case report, we describe a woman who developed a spontaneous orbital haemorrhage in the perioperative period following cardiac angioplasty. ### CASE REPORT A 48 year old woman awoke with blurred vision and diplopia in her left eye 1 day after percutaneous coronary angioplasty for coronary stenosis. Before angioplasty she received ReoPRo (abciximab), a glycoprotein GP IIib/IIIa antagonist. There was no …