Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score.

ABSTRACT:

Background

Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification genetic disease mainly caused by ABCC6 rare sequence variants. The clinical phenotype is characterized by typical dermatological, ophthalmological and cardiovascular manifestations, whose frequency and severity are differently reported in the literature.

Methods

A retrospective study was performed on 377 PXE patients of Italian origin, clinically evaluated according to the Phenodex Index, who underwent ABCC6 biomolecular analyses. Moreover, 53 PXE patients were further characterized by in-depth ophthalmological examinations.

Results

A total of 117 different ABCC6 rare sequence variants were detected as being spread through the whole gene. The severity of the clinical

SUBMITTER: Boraldi F 

PROVIDER: S-EPMC8235548 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature