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This study examines the inherited eye disease X-Linked Juvenile Retinoschisis from clinical and genetic angles. It enrolls affected males, potential carrier mothers, and other relatives. It is an observational (non-phase) study that is ongoing but not currently recruiting.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
* INCLUSION CRITERIA: 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. EXCLUSION CRITERIA: 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.