Eye injury as a result of coat toggle trauma.

PURPOSE: To report the severity of ocular injury in three adults with blunt ocular trauma resulting from elastic corded coat toggles. DESIGN: Observational case series. METHODS: We retrospectively reviewed the case records of all patients (n=3) with blunt ocular trauma secondary to elastic corded coat toggles that presented to our department. RESULTS: Injuries included traumatic hyphaema, cataract, angle recession, vitreous haemorrhage and retinal tears. CONCLUSIONS: Significant ocular injury can result from elasticated coat toggles. The general ophthalmologist should be aware of this new method of potentially sight threatening trauma.

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Dominant optic atrophy (DOA) is the commonest form of inherited optic neuropathy. Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the gene responsible, OPA1, was recently identified. We therefore screened a panel of 35 DOA patients for mutations in OPA1. This revealed 14 novel mutations and a further three known mutations, which together accounted for 20 of the 35 families (57%) included in this study. This more than doubles the number of OPA1 mutations reported in the literature, bringing the total to 25. These are predominantly null mutations generating truncated proteins, strongly suggesting that the mechanism underlying DOA is haploinsufficiency. The mutations are largely family-specific, although a common 4 bp deletion in exon 27 (eight different families) and missense mutations in exons 8 (two families) and 9 (two families) have been identified. Haplotype analysis of individuals with the exon 27 2708del(TTAG) mutation suggests that this is a mutation hotspot and not an ancient mutation, thus excluding a major founder effect at the OPA1 locus. The mutation screening in this study also identified a number of asymptomatic individuals with OPA1 mutations. A re-calculation of the penetrance of this disorder within two of our families indicates figures as low as 43 and 62% associated with the 2708del(TTAG) mutation. If haploinsufficiency is the mechanism underlying DOA it is unlikely that this figure will be mutation-specific, indicating that the penetrance in DOA is much lower than the 98% reported previously. To investigate whether Leber's hereditary optic neuropathy (LHON) could be caused by mutations in OPA1 we also screened a panel of 28 LHON patients who tested negatively for the three major LHON mutations. No mutations were identified in any LHON patients, indicating that DOA and LHON are genetically distinct.

What factors influence cataract waiting list time?

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.