Working… Menu

Evolution of Visual Impairment During Pseudoxanthoma Elasticum

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00555113
Recruitment Status : Completed
First Posted : November 7, 2007
Last Update Posted : November 7, 2007
Information provided by:
European Georges Pompidou Hospital

Brief Summary:

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.

Condition or disease
Pseudoxanthoma Elasticum

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.

Layout table for study information
Study Type : Observational
Actual Enrollment : 38 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Evolution of Visual Impairment During Pseudoxanthoma Elasticum
Study Start Date : January 2000
Actual Study Completion Date : September 2007

Resource links provided by the National Library of Medicine

pseudoxanthoma elasticum

Primary Outcome Measures :
  1. Visual acuity according to age [ Time Frame: 7 years ]

Secondary Outcome Measures :
  1. Macular aspect and outcoming of choroidal neovascularization [ Time Frame: 7 years ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

Inclusion Criteria:

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

Exclusion Criteria:

  • No pseudoxanthoma elasticum

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00555113

Layout table for location information
Department of ophthalmology, HEGP
Paris, France, 75015
Sponsors and Collaborators
European Georges Pompidou Hospital
Layout table for investigator information
Principal Investigator: Christophe ORSSAUD, MD department of ophthalmology, HEGP, AP - HP, France

Layout table for additonal information Identifier: NCT00555113     History of Changes
Other Study ID Numbers: 2
First Posted: November 7, 2007    Key Record Dates
Last Update Posted: November 7, 2007
Last Verified: November 2007
Keywords provided by European Georges Pompidou Hospital:
pseudoxanthoma elasticum
Visual acuity
Choroidal neovascularization
angioid streaks
Additional relevant MeSH terms:
Layout table for MeSH terms
Vision Disorders
Vision, Low
Pseudoxanthoma Elasticum
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Eye Diseases
Signs and Symptoms
Hemostatic Disorders
Vascular Diseases
Cardiovascular Diseases
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Connective Tissue Diseases
Skin Diseases