3126 Pseudoxanthoma elasticum: A clinical and genealogical study

3126 Pseudoxanthoma elasticum: A clinical and genealogical study

PURPOSE: To assess the effect of change in pupU dianww induced by Tropicamide 0.5% on Snellen acuity and lclrcr cotmast senskivhy tn humans. METHODS: 20 eyes were ~sscssed wth the l'clli-Robson CS char1 and Sncllen chart pn-and posr-dilataGon (Tropicamide O.S%), with luminance kept at between ICUI and 1100 111x. RESULTS: Pupil dilatsdon was found to have lirde effect on SneUcn acuity: 13 eyes m...

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight fem...

Pseudoxanthoma elasticum

Periumbilical perforating pseudoxanthoma elasticum.

A 58-year-old, gravida 6, obese woman presented with a pruritic yellowish plaque around the umbilicus, which first appeared about 3 years ago. She also had flat yellow papules on the axilla and neck. After a burn from a heating device, a few perforating papules and a violaceous hue occurred on the plaque. Histological examination revealed pathological elastic fibers with a keratotic plug and pe...

Autosomal dominant pseudoxanthoma elasticum.

very severe choroidoretinitis, often complicated by blindness. Dominant type II PXE, on the other hand, is a much milder form of the disease, with a macular rash (though identical histological changes), no vascular changes, and a very mild retinal degeneration, which does not progress to either blindness or choroidoretinitis. Younger members of these families often have prominent choroidal vess...