Evolution of Visual Impairment During Pseudoxanthoma Elasticum

November 6, 2007 updated by: European Georges Pompidou Hospital

Pseudoxanthoma elasticum is a disease whom frequency is estimated about 1/50000 to 1/100 000. There is a female preponderance with a sex-ratio of 2:1. PXE is transmitted according either to an autosomal dominant mode or to an autosomal recessive one. Mutations in the ABCC6 gene on chromosome 16p13.1 have recently been identified causing PXE. The elastic fibers slowly become mineralized mainly in the skin, the eyes, and the cardiovascular system. PXE is a multisystem disease that includes a spectrum of clinical manifestations affecting the skin, the eye or the cardiovascular system as well as other tissues. It can be responsible for severe and life threatening complications. Skin changes are usually the first manifestations and begin in early childhood. The vital prognosis of PXE depends on the severity of the cardiovascular lesions that could be responsible for sudden death in children and young adults.

Ocular manifestations are quite constant and include chorioretinal scarring, pigmentary changes or angioid streaks. The natural evolution of the angioid streaks leads to their enlargement or to the occurrence of subfoveal choroidal neovascularizations and hemorrhages leaving macular scares. A self-monitoring is recommended since early treatment of subfoveal CNV is the only way to minimize their pejorative consequences. The gold standard treatment of the CNV consists in the photocoagulation. New therapeutics has been developed including photodynamic therapy or intravitreal injection of anti-angiogenic agents and they seems to be effective to reduce the immediate complications of a limited CNV. This evolution explains that 50 to 70 % of the patients have a poor vision or legal blindness of one or both eyes. However, little is known about the age of occurrence of visual impairment in PXE patients. That is the reason why we decided to review the ophthalmologic status and visual history of our population of PXE patients according to their age.

Study Overview

Status

Completed

Conditions

Detailed Description

A retrospective review of all cases of PXE patients referred by the Department of Genetics should be performed. This ophthalmologic examination has been conducted as part of the usual follow up for such PXE patients or for the needs of a treatment of complications of angioid streaks such as CNV complications.

As we studied the age of poor vision occurrence, we propose to take in account the first examination when a best-corrected visual acuity (BCVA) under 20/50 was observed. All past medical events obtains from the data of the patients will be recorded, especially ophthalmologic ones.

Study Type

Observational

Enrollment (Actual)

38

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75015
        • Department of ophthalmology, HEGP

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

patients with pseudoxanthoma elasticum confirmed by the Department of Genetics according to the usual clinical, histological or genetic criterion.

Description

Inclusion Criteria:

  • pseudoxanthoma elasticum confirmed by the Department of Genetics according to the usual clinical, histological or genetic criterion.

Exclusion Criteria:

  • No pseudoxanthoma elasticum

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort
1
pseudoxanthoma elasticum

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Visual acuity according to age
Time Frame: 7 years
7 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Macular aspect and outcoming of choroidal neovascularization
Time Frame: 7 years
7 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

European Georges Pompidou Hospital

Investigators

  • Principal Investigator: Christophe ORSSAUD, MD, department of ophthalmology, HEGP, AP - HP, France

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2000

Study Completion (Actual)

September 1, 2007

Study Registration Dates

First Submitted

November 6, 2007

First Submitted That Met QC Criteria

November 6, 2007

First Posted (Estimate)

November 7, 2007

Study Record Updates

Last Update Posted (Estimate)

November 7, 2007

Last Update Submitted That Met QC Criteria

November 6, 2007

Last Verified

November 1, 2007

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2 (Instituto Cardiovascular de Buenos Aires)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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