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.
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.
The authors highlight the differences between lax eyelid syndrome, cutis laxa, floppy eyelid syndrome and the blepharochalasis syndrome and suggest that lax eyelid syndrome can be thought of as "progeria" or premature ageing of the eyelid tissues to distinguish it clearly from these other conditions.
Purpose This study was conducted in order to investigate the effect of accommodation on the iris morphology and iridolenticular contact, in eyes with Pigment Dispersion Syndrome and Pigmentary Glaucoma, using high-resolution ultrasound. Methods We performed a prospective observational study, examining a group of 30 Pigment Dispersion Syndrome and Pigmentary Glaucoma patients (49 eyes) and a smaller group of eight 'normals' nonPigment Dispersion Syndrome patients (8 eyes). All patients underwent ultrasound biomicroscopy, before and during accommodation. Results The iris profile before accommodation was found convex in 48.5%, flat in 19.7% and concave in 31.8%. Following accommodation the iris configuration remained unchanged in 66.2%, increased in concavity in 20.3% and decreased in concavity in 13.5%. Conclusion The effect of accommodation on iris configuration and accommodation is highly variable. From our experience the measurement of iris configuration using ultrasound biomicroscopy may not be a useful method of evaluating the effect of different treatments on iris configuration.
Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and digital anomalies. The condition was first described in 1970 and the gene responsible is FGD1 (MIM#305400). There are several reported ophthalmic findings associated with Aarskog syndrome which are discussed. We describe a case of Aarskog syndrome with venous tortuosity, optic nerve hypoplasia, and a type-2 antithrombin deficiency.
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