Protocol Details

X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	03-EI-0033
Sponsoring Institute	National Eye Institute (NEI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 9 mo Max Age: 76
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Retinoschisis; Genomic DNA; Pedigree Analysis; Genetic Analysis; Macular Degeneration
Recruitment Keyword(s)	Juvenile Retinoschisis; X-Linked Juvenile Retinoschisis; XLRS; Cone Dystrophy; Juvenile Macular Degeneration; Stargardt Syndrome
Condition(s)	Retinoschisis
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Eye Institute

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.

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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.

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Citations:

Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K. Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol. 1999 Aug;128(2):179-84.

Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andreasson S, Ehinger B, Sieving PA. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch Ophthalmol. 2000 Aug;118(8):1098-104.

George ND, Yates JR, Moore AT. X linked retinoschisis. Br J Ophthalmol. 1995 Jul;79(7):697-702.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Paul A. Sieving, M.D. National Eye Institute (NEI) National Institutes of Health Building 31 Room 6A03 31 Center Drive Bethesda, Maryland 20892 (301) 496-2234 paulsieving@nei.nih.gov	Amy E. Turriff National Eye Institute (NEI) National Institutes of Health Building 10 Room 10N226 10 Center Drive Bethesda, Maryland 20892 (301) 443-2634 turriffa@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00055029

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