Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis

NCT00055029 | Active Not Recruiting

• 2 other identifiers: 03003303-EI-0033
• Study Type: observational
• Target: 351
• Locations: 1 country
• Sites: 2

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. ...

Conditions

Retinoschisis

Keywords

Retinoschisis; Genomic DNA; Pedigree Analysis; Genetic Analysis; Macular Degeneration; Natural History

Outcome Measures

Primary Outcomes (2)

• Investigate the relationship between genotype and phenotype in X-Linked Retinoschisis by correlating four phenotype severity classes with two classes of genotypes. This is the first step in developing a comprehensive genotype-phenotype correlati...

  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.

  ongoing

• 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.

  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.

  ongoing

Secondary Outcomes (1)

• To develop a detailed pedigree for affected families.

  ongoing

Study Arms (1)

Affected males and family members

Up to 500 participants, including a minimum of 150 males diagnosed with XLRS

Eligibility Criteria

• Age: 9 Months - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (2)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

William Beaumont Hospital

Rochester, Michigan, 48309, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Retinoschisis; Macular Degeneration

Condition Hierarchy (Ancestors)

Retinal Degeneration; Retinal Diseases; Eye Diseases

Study Officials

• Laryssa A Huryn, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 15, 2003
• First Posted: February 17, 2003
• Study Start: May 19, 2003
• Last Updated: April 24, 2026

Record last verified: 2026-02-02

Locations

US (2)