RetinoschisisNCT00055029
Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis
An observational study of Retinoschisis, run by National Eye Institute (NEI) at 2 sites in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 9 months to 100 years
- Conditions the study is for
- Retinoschisis
- How many people
- 351 participants
- Where
- 2 sitesUnited States
- Study dates
- 19 May 2003to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 9 months to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
William Beaumont Hospital
Rochester, Michigan, 48309
About this study
Official title: X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies
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.
Read more
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.
...
Read the detailed description
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:
- 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 genotypephenotype correlation.
- 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 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.
- Conditions
- Retinoschisis
- Keywords
- Retinoschisis, Genomic DNA, Pedigree Analysis, Genetic Analysis, Macular Degeneration, Natural History
- Medical subject headings
- Retinoschisis, Macular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Affected males and family members | Up to 500 participants, including a minimum of 150 males diagnosed with XLRS |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: ongoing
Secondary outcomes (1)
To develop a detailed pedigree for affected families.
This information may be used to develop preliminary risk estimates for potential carrier females
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2003 (estimated)
- Study start19 May 2003
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RetinoschisisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 351 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Laryssa A Huryn, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00055029
- Sponsor's protocol ID
- 030033
- Other IDs
- 03-EI-0033
- Status last verified
- 6 Jul 2026
- First submitted
- 15 Feb 2003
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies
- ClinicalTrials.gov ID
- NCT00055029
- Acronym / sponsor ID
- 030033
- Conditions
- Retinoschisis
- Keywords
- Retinoschisis, Genomic DNA, Pedigree Analysis, Genetic Analysis, Macular Degeneration, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 351 participants (actual)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 19 May 2003 (actual)
- First posted
- 17 Feb 2003 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
...
Detailed description
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:
- 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 genotypephenotype correlation.
- 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 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Affected males and family members | – | –Up to 500 participants, including a minimum of 150 males diagnosed with XLRS |
Who may qualify
- Ages
- 9 months to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (6 listed)
- 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.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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...
Time frame: ongoing
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.
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.
Time frame: ongoing
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.
1 secondary outcome
To develop a detailed pedigree for affected families.
Time frame: ongoing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Related trials for Retinoschisis
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ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis
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Inherited Retinal Degenerative Disease Registry
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Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
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Safety and Efficacy of a Single Subretinal Injection of JWK002 Gene Therapy in Subjects With X-linked Retinoschisis(XLRS)
X Linked Retinoschisis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laryssa A Huryn, M.D. principal investigator
National Eye Institute (NEI)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinoschisis, run by National Eye Institute (NEI) at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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... (time frame: ongoing). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.