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To highlight the diversity of clinical presentations with tubercular uveitis in a nonendemic setting, and discuss the diagnostic approach and an effective treatment. Descriptive case series. A total of 12 cases of varied presentations of tubercular uveitis diagnosed over a period of 1 year of which six cases are described in detail. Presentations included choroidal tuberculomas, multifocal choroiditis, recurrent granulomatous uveitis, panuveitis with cystoid macular oedema, and serpiginous choroiditis. All cases had a chronic or recurrent course and responded very well to antitubercular treatment. Diagnosis was mainly assisted by positive tuberculin testing. A high index of suspicion helps diagnose ocular tuberculosis in areas of low prevalence of the disease. It forms part of the differential diagnosis of any chronic or recurrent uveitis, especially in an at-risk patient. Antitubercular treatment seems highly effective.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability. Nat Genet

Purpose To determine whether prilocaine is a more comfortable local infiltration anaesthetic agent than the more widely used lignocaine for minor eyelid procedures. Methods A prospective randomised study was undertaken to compare the discomfort between local infiltration of plain 2% prilocaine versus its equivalent, plain 2% lignocaine. One hundred and twenty-five patients were recruited. Pain was assessed subjectively using a visual analogue pain score, graded from 0 to 10. Results The mean pain score for the prilocaine group was 1.82 compared with 3.19 for the lignocaine group. Using the Mann-Whitney U-test for significance, U = 1236.5; p < 0.001. Conclusion Prilocaine is a more comfortable local infiltration anaesthetic agent than lignocaine when used for minor eyelid procedures.

AIMS—To determine whether there were any specific factors that influenced waiting list time (WLT) for patients undergoing cataract surgery. METHODS—70 preoperative cataract patients were interviewed by one of the authors using a questionnaire to score visual acuity, coexisting ocular pathology and disabilities, threat to independent living/employment, and perceived visual handicap for detailed, gross, and driving vision. Individuals were analysed separately according to whether it was their first or second cataract operation. RESULTS—The median WLT for first eye surgery was 9 months (n = 31) and 13 months for second eye surgery (n = 36). The WLT ranged from 2 to 25 months for first eyes and 0.25-18 months for second eyes. Where there was a perceived threat to independent living or employment the WLT was found to be significantly shorter than the median. A high overall score correlated with a shorter WLT. Surgical priority was also given to individuals with anisometropia >3 dioptres. CONCLUSION—This study has demonstrated that there are specific factors that influence clinicians when prioritising patients for cataract surgery.

The eye is involved in several pathologies where precise identification of the underlying condition is essential for the optimal patient care. This preliminary report presents the potential of high-resolution microscopy coil magnetic resonance imaging (HR-MRI) to undertake this task being actively used in the clinical setting. We used a commercially available MRI scanner and a microscopy surface coil. Exquisite anatomic detail of the eye and orbit with depiction of previously unobserved structures and clear demonstration of the underlying pathology was achieved. This report supports the idea that orbital imaging can be revolutionized with the introduction of HR-MRI with broad clinical implications.

A 10‐year‐old male, born at full‐term, from Madagascar presented with bilateral persistent pupillary membranes (Figure-1). Ocular examination was otherwise unremarkable with normal fundal appearanc...

A 25 year old woman presented to her general practitioner with an urticarial rash on her chest. Three weeks later it had spread to her cheeks and forehead, but sparing the eyelids, to the shoulders and dorsum of the hands. This was associated with increasing fatigue, mouth ulceration, peri-ungual erythema, and arthralgia of the wrists and ankles. She had been previously healthy, was taking no medication and the family history was unremarkable. A diagnosis of systemic lupus erythematosus (SLE) was made by a dermatologist and oral prednisolone was started at 40 mg/day. Investigations were as follows: haemoglobin 14.2 g/dl, leucocytes 6.4 × 109/l, platelets 100 × 109/l, erythrocyte sedimentation rate (ESR) 7 mm 1st h, antinuclear antibody (ANA), deoxyribonucleic acid (DNA), anti-cardiolipin antibodies, rheumatoid factor (RF), and extractable nuclear antigens (ENA), including Jo-1, were all negative. Immunoglobulin concentrations were normal. One week later, because of worsening myalgia, the creatine kinase (CK) was measured and found to be increased at 2999 iu/l (normal < 160 iu/l). The revised diagnosis was dermatomyositis. The patient was admitted to hospital for observation and the dose of oral prednisolone increased to 60 mg/day. Azathioprine was started at 50 mg/day. On the second day of admission, four weeks after the onset of her systemic symptoms, she complained of visual blurring. The Snellen visual acuity was 6/24 in both eyes. Scattered posterior pole cotton wool spots and haemorrhages with macular oedema were reported by an ophthalmologist. The CK had risen to 6650 iu/l. Chest radiograph, electrocardiogram, and renal function were normal. Pulsed intravenous methylprednisolone at a dose of 500 mg for three days was given at this stage, in view of the acute general deterioration. Within a week of admission, she was transferred to …

Nat. Genet. 38, 1242–1244 (2006); published online 1 October 2006; corrected after print 6 June 2011 In the version of this article initially published, the author Andrew Bastawrous was omitted from the author list. The error has been corrected in the HTML and PDF versions of the article.