4.7 Article

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

期刊

JOURNAL OF CLINICAL MEDICINE
卷 10, 期 12, 页码 -

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MDPI
DOI: 10.3390/jcm10122710

关键词

PXE; phenotype; Phenodex; atrophy; comet lesion; pattern dystrophy; ABCC6

资金

  1. PXE Italia Odv [E96C18000600007]
  2. PXE Italia Odv

向作者/读者索取更多资源

ABCC6 rare sequence variants were found throughout the entire gene in a cohort of Italian PXE patients. The severity of clinical phenotype in PXE patients was found to be age-dependent, with in-depth ophthalmological examinations providing insight into disease progression and allowing for better patient stratification.
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 phenotype was dependent on age, but it was not influenced by gender or by the type of sequence variants. In-depth ophthalmological examinations focused on the incidences of coquille d'oeuf, comet lesions, pattern dystrophy-like lesions, optic disk drusen and posterior-pole atrophy. Conclusion: Given the large number of patients analyzed, we were able to better evaluate the occurrence of less frequent alterations (e.g., stroke, myocardial infarction, nephrolithiasis). A more detailed description of ophthalmological abnormalities allowed us to stratify patients and better evaluate disease progression, thus suggesting a further update of the PXE score system.

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