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Lymphoedema-distichiasis (LD) is a dominantly inherited form of primary lymphoedema with onset of lower limb swelling at puberty or later. There is variable penetrance of this disorder, but the most consistently inherited feature is distichiasis, viz. fine hairs arising inappropriately from the meibomian glands. We established linkage of this disorder to 16q24.3 and the gene has recently been identified as the forkhead transcription factor FOXC2. We report the mutational analysis of 14 families with LD. All but one of these pedigrees have small insertions or deletions in the gene, which seem likely to produce haploinsufficiency. The mutation sites are scattered throughout the gene. There is one family with a mis-sense mutation in the forkhead domain of the protein. This base alteration is not a common polymorphism, is co-inherited with the disease and produces a non-conservative amino acid change.

Background/aims-Raising a displaced lower eyelid frequently involves recession of the lower eyelid retractors with interposition of a "spacer," and several materials for this purpose have been described. This study reviewed the results of autogenous palatal mucosa in the treatment of lower eyelid displacement, including assessment of any donor site morbidity.

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Purpose To review two cases of primary orbital melanoma presenting like orbital vascular anomalies. Methods Retrospective review of clinical presentation, treatment, radiology and pathology for two patients under the care of the Orbital Clinic at Moorfields Eye Hospital. Results Both lesions presented with the appearance and behaviour of vascular anomalies. In one case, a spindle cell melanoma appeared to be a low flow vascular anomaly with a loculated secondary haemorrhage and, in the other case, a melanoma of soft parts was considered to be an arteriovenous malformation and responded partially to embolisation. Conclusion Primary malignant melanoma may present as a secondary vascular lesion of the orbit and this very rare tumour should be considered in the differential diagnosis of any vascular anomaly.