Evolution of Visual Impairment During Pseudoxanthoma Elasticum

NCT00555113 | Completed

• 1 other identifier: 2
• Study Type: observational
• Target: 38
• Locations: 1 country
• Sites: 1

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.

Conditions

Pseudoxanthoma Elasticum

Keywords

pseudoxanthoma elasticum; Visual acuity; Choroidal neovascularization; angioid streaks

Outcome Measures

Primary Outcomes (1)

• Visual acuity according to age

  7 years

Secondary Outcomes (1)

• Macular aspect and outcoming of choroidal neovascularization

  7 years

Study Arms (1)

1

pseudoxanthoma elasticum

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• No pseudoxanthoma elasticum

Sponsors & Collaborators

• European Georges Pompidou Hospital: lead

Study Sites (1)

Department of ophthalmology, HEGP

Paris, Paris, 75015, France

Location

Related Publications (1)

• Pakalnis L, Makoroto J. Reproduction and the test tube baby. Can Nurse. 1977 Feb;73(2):34-8.

  PMID: 264800 BACKGROUND

MeSH Terms

Conditions

Pseudoxanthoma Elasticum; Choroidal Neovascularization; Angioid Streaks

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Choroid Diseases; Uveal Diseases; Eye Diseases; Neovascularization, Pathologic; Metaplasia; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Retinal Diseases

Study Officials

• Christophe ORSSAUD, MD

  department of ophthalmology, HEGP, AP - HP, France

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: November 6, 2007
• First Posted: November 7, 2007
• Study Start: January 1, 2000
• Study Completion: September 1, 2007
• Last Updated: November 7, 2007

Record last verified: 2007-11

Locations

FR (1)