Background Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane protein, Cx43, that is a component of connexon membrane channels. Methods We describe two unrelated female probands referred for a genetic review in view of a dysmorphic clinical phenotype. Results Two novel missense mutations in GJA1 that substitute conserved amino acids in the first and second transmembrane domains (NM_000165.5: c.77T>C p.Leu26Pro and NM_000165.5:c.287T>G p.Val96Gly) were detected through targeted sequencing of GJA1. These variants were detected in the heterozygous state in the two Maltese probands and segregated with the disease phenotype. Conclusion This report further expands the mutational spectrum of ODDD.

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Purpose: The Malta Eye Study is a cross‐sectional ophthalmic epidemiology study of the Maltese population aged between 50–80 years. We report preliminary data on visual impairment, and the leading causes of visual loss among the Maltese population. Methods: Data is being collated over 2 years from a randomized sample of 2000 subjects from the Maltese Electoral Register, using postal invitations for assessments. The assessments include questionnaires (National Eye Institute Visual Function Questionnaire, EuroQoL, Ocular Surface Disease Index, the Quick Mild Cognitive Impairment Score), anthropometrics, visual assessment, a slit lamp based ophthalmological examination, OCT scanning, Visionix and saliva collection for DNA analysis. The visual examination involves the use of logMAR chart calibrated at 4 m. This is performed for either eye with occlusion of the other eye. The WHO definitions of mild, moderate, severe visual impairment and blindness have been used. Results: Up until the date of submission of this abstract, 500 participants were assessed (25% of the target data). The overall prevalence of visual impairment, that is, any vision >0.3 logMAR in the better eye, is 5.8% (95% CI 3.9–8.2%). The prevalence of mild, moderate, severe visual impairment and blindness of the better eyes are 3.6% (95% CI 2.1–5.6%), 1.6% (95% CI 0.7–3.1%), 0.2% (95% CI 0.0–1.1%) and 0.4% (95% CI 0.0–1.4%) respectively. 22.4% (95% CI 18.8–26.3%) of the population have at least one eye with visual impairment, i.e. visual acuity >0.3 logMAR. In the population with visual impairment in at least one eye, the leading causes for such impairment in descending order include uncorrected refractive error, amblyopia, untreated cataract, age related macular degeneration, diabetic retinopathy and glaucoma with prevalence of 29.5% (95% CI 21.2–38.8%), 21.4% (95% CI 14.2–30.2%), 20.5% (95% CI 13.5–29.2%), 7.1% (95% CI 3.1–13.6%), 4.5% (95% CI 1.5–10.1%) and 4.5% (95% CI 1.5–10.1%) respectively. Conclusions: The findings from this preliminary dataset compare well with large epidemiological surveys of similar populations in Europe and the US.

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The authors describe the unusual case of a 63-year-old patient who was referred with fever and lethargy, and was found to be hyponatraemic. The patient subsequently developed hemiparesis, and neuroradiology showed several space-occupying brain lesions. The cause was later identified as cerebral toxoplasmosis in undiagnosed Acquired Immunodeficiency Syndrome (AIDS). LEARNING POINTS• Early detection and treatment of Acquired Immunodeficiency Syndrome (AIDS) is important in the prevention of associated neurological sequelae.• Human Immunodeficiency Virus (HIV) testing should be considered in cases of unexplained fever and lethargy even in the absence of risk factors for transmissible diseases.• AIDS may present as unexplained hyponatraemia due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH). KEYWORDSToxoplasmosis, HIV, Acquired Immunodeficiency Syndrome, Inappropriate ADH Syndrome. CASE PRESENTATIONA 63-year-old man was referred to the Emergency Department with a 4-week history of lethargy, weight loss, fever, and night sweats. He had a fever of 38°C at presentation, but there were no localising symptoms or signs of infection. He had a past history of giardiasis, diagnosed on duodenal biopsy 1 year previously, which was treated effectively with metronidazole. A thorough social history was non-contributory. The patient was admitted for further diagnostic investigation, and initial tests showed mild pancytopenia and an elevated Erythrocyte Sedimentation Rate of 80mm/hour. Chest X-ray, blood and urine cultures were normal. He was found to be hyponatraemic with a serum sodium level of 122mmol/l. Further testing revealed a low serum osmolarity and a high urine osmolarity, in the presence of a normal thyroid and adrenal function, suggesting the presence of the syndrome of inappropriate antidiuretic hormone secretion (SIADH). Two days post admission, the patient was increasingly lethargic and a full neurological examination was repeated, revealing new left-sided hemiparesis. Computed tomography (CT) of the brain showed a smooth, ring enhancing lesion just lateral to the frontal horn of the right lateral ventricle, with extensive vasogenic oedema. Magnetic Resonance Imaging (MRI) of the brain demonstrated multiple ring enhancing lesions, including a 2.7cm lesion in the right basal ganglia (Fig. 1), two smaller lesions at the base of the left frontal sulci, as well as small foci of enhancement in the cerebellum. The patient was started on intravenous ceftriaxone and metronidazole by the on-call physician in Neurology, and the Infectious Diseases team recommended adding oral co-trimoxazole. The patient's serum sodium level improved after antibiotic treatment was initiated. An underlying cause was sought. Echocardiography excluded vegetations, and computed tomography of the trunk showed mesenteric panniculitis, keeping with the previous diagnosis of Giardiasis. Toxoplasma antibodies and Human Immunodeficiency Virus (HIV) testing were both positive. A diagnosis of cerebral toxoplasmosis was made...