Clinical Trial: Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies

Brief Summary:

This study will explore the causes and eye problems of X-linked juvenile retinoschisis (XLRS), an inherited disease that causes vision loss primarily in young males. The vision loss, which worsens over time, is a result of schisis, or splitting, of the layers of the retina (tissue that lines the back of the eye). A better understanding of why and how XLRS develops might lead to improved treatments.

Patients 9 months of age and older with XLRS and females who are suspected carriers of the gene responsible for the disease (such as the mother of the patient) may be eligible for this study. Other family members of patients also may be enrolled.

Patients will undergo the following tests and procedures:

• Personal and family medical history to review past and current medical conditions and treatments, particularly regarding eye disease, and to construct a family tree.
• Eye examination to assess visual acuity (eye chart test) and examine pupils, lens, retina, and eye movements. The pupils will be dilated with drops for this examination.
• Photography of the retina to help evaluate the status of the retina.
• Specialized eye tests to evaluate color vision, field of vision, and ability to see in the dark.
• Electroretinogram (ERG) to examine what happens to the eyes after a flash of bright light. For this test, the patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small silver disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes. The patient looks inside a large empty bowl and then a lig
  

  Detailed Summary:

  Objectives:

  The overall goal of this protocol is to better understand the etiology of XLRS disease to facilitate further research to identify a potential treatment for the disease. The specific primary objectives of this study are to:

  1. Investigate the relationship between genotype and phenotype in X-Linked Retinoschisis by correlating four phenotype severity classes with two classes of genotypes (refer to Section 7. for definitions). This is the first step in developing a comprehensive genotype-phenotype correlation.
  2. Characterize the anatomical and functional characteristics of retinoschisis to refine the phenotype scale and investigate and characterize specific XLRS1 mutations to generate a well-documented genotype-phenotype correlation map.

  With the opportunity to study the genotypes and phenotypes of many affected males and the genotype of family members, a secondary objective of this study will be to develop a detailed pedigree for affected families. This information may be used to develop preliminary risk estimates for potential carrier females.

  Study Population:

  Up to 500 participants may enroll in this study. A minimum of 150 of participants are expected to be males diagnosed with X-Linked Retinoschisis. Participants may be recruited from the NIH and also from participating off-site locations. The quality of the genetic observation is directly proportional to the number of affected individuals and genetically-different families enrolled.

  Design:

  This natural history, multi-center, registry study to
  Sponsor: National Eye Institute (NEI)
  

  Current Primary Outcome:
  
  

  Original Primary Outcome:
  
  

  Current Secondary Outcome:
  
  

  Original Secondary Outcome:
  
  Information By: National Institutes of Health Clinical Center (CC)
  

  Dates:
  Date Received: February 15, 2003
  Date Started: February 12, 2003
  Date Completion:
  Last Updated: April 21, 2017
  Last Verified: August 1, 2016