Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease

Purpose: To determine whether a correlation between ABCC6 mutations and ocular phenotypic expressions exists. Methods: In this study, 28 relatives of a consultand with known pseudoxanthoma elasticum were recruited for evaluation of the ocular manifestations of the disease, including peau d'orange appearance, angioid streaks, choroidal neovascular membranes, peripapillary atrophy, and retinal drusen. Comprehensive eye examinations were documented for all patients, who were then evaluated for the presence of known mutations in the aforementioned ABCC6 gene. Results: Statistically significant correlations were noted between the gene and peau d'orange appearance (P < 0.0016), angioid streaks (P = 0.0001), and choroidal neovascular membranes (P < 0.0016). Conclusions: A statistically significant association was documented between the R39G mutation of the ABCC6 protein and 3 of 6 known manifestations of pseudoxanthoma elasticum. Although mutations of this gene are clearly associated with angioid streaks, the mechanism by which the transporter affects development of this pathology is speculative.