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A. Plomp, K.G. Hovingh, M.D. Trip, A.A. B. Bergen, R.J. Florijn, J. Toonstra, M.R. Canninga–van Dijk, S. Terry, P.T. V. M. de Jong; Pseudoxanthoma Elasticum: Ocular and Clinical Variation in Patients Homozygous for the 3775delT Mutation in ABCC6 . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4631.
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Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, caused by mutations in the ABCC6 gene. To date at least 90 different mutations have been found in PXE patients.
To look at the phenotypic variability within a group of genotypically identical patients with pseudoxanthoma elasticum (PXE).
Six male and nine female patients from a genetic isolate in The Netherlands, aged between 30 and 70 years, underwent ophthalmologic and dermatologic examination. A home–sent questionnaire was gone over with the patients in the study center. Ophthalmologic examination included assessment of visual acuity, slit–lamp examination, fundoscopy and fundus photography. All patients underwent a physical examination for dermatologic abnormalities, which were photographed. From each patient one or two skin biopsies were examined. Blood was taken for DNA studies.
All 15 patients were homozygous for the 3775delT mutation in ABCC6. The phenotype was quite variable: skin signs could be severe at age 30 and doubtful at age 60, clinically as well as in a skin biopsy. Vision varied from subnormal to legal blindness around age 60. Four patients had clinical cardiovascular disease, all of them with age of onset between 51 and 53 years.
The PXE phenotype is highly variable, even within one genotype. There was no clear correlation between severity of skin, eye or cardiovascular abnormalities.
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