Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00055029
Recruitment Status : Recruiting
First Posted : February 17, 2003
Last Update Posted : August 9, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

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 light flashes, first in the dark and then with a light turned on inside the bowl. The contact lenses sense small electrical signals generated by the retina when the light flashes.
  • Blood test to examine DNA for genetic study of XLRS.

Family members will provide a blood sample for genetic study.

Condition or disease

Detailed Description:


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.


This natural history, multi-center, registry study to enroll males diagnosed with X-Linked Retinoschisis and the family members of affected individuals. Onsite affected males will undergo clinical examination and have their blood drawn for genotyping. Onsite unaffected participants will undergo eye examinations. Blood may also be drawn from the onsite unaffected participants but this is not required. Sites outside of NIH are participating as referral centers to accumulate the cohort. Offsite affected male participants will forward a blood sample and records from previous eye examinations to the NEI for review and analysis. Offsite unaffected participants will forward records from previous eye examinations and may provide a blood sample although this is not required.

Outcome Measures:

The primary outcome is the categorization of the proband s genotype and phenotype and determination of the relationship between the two.

Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies
Study Start Date : February 12, 2003

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.

Ages Eligible for Study:   9 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Eligible participants must satisfy one of the criteria below:

  • Male diagnosed with X-Linked Juvenile Retinoschisis (proband). A proband will be defined as the first X-Linked Juvenile Retinoschisis diagnosed male in a given family who contacts the NIH for participation in the study; or
  • Female who is a suspected carrier (i.e., mother of proband); or
  • Other relative of proband including affected and unaffected males and females.

The participant (or the participant s legal guardian) understands and signs this protocol s informed consent document and minor participants between the ages of 7 and 17 must provide assent.


Affected males will be ineligible for participation if:

  • The participant has a significant media opacity or other obstruction precluding a complete fundus examination including retinal photography.
  • The participant is unwilling or unable to contribute a blood sample for genotyping if there is not existing genetic analysis data from a documented family member.

Both affected and unaffected individuals will be ineligible for participation if:

  • The participant is younger than two years (seen at the NIH) or younger than nine months (participating offsite through medical record review and blood submission).
  • The participant is unable to cooperate with study procedures without anesthesia.

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): NCT00055029

Contact: Amy E Turriff (301) 402-4175
Contact: Paul A Sieving, M.D. (301) 496-2234

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Eye Institute (NEI)
Principal Investigator: Paul A Sieving, M.D. National Eye Institute (NEI)

Additional Information:
Responsible Party: National Eye Institute (NEI) Identifier: NCT00055029     History of Changes
Other Study ID Numbers: 030033
First Posted: February 17, 2003    Key Record Dates
Last Update Posted: August 9, 2018
Last Verified: June 28, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Genomic DNA
Pedigree Analysis
Genetic Analysis
Macular Degeneration
Juvenile Retinoschisis
X-Linked Juvenile Retinoschisis

Additional relevant MeSH terms:
Retinal Degeneration
Retinal Diseases
Eye Diseases