Protocol Number: 03-EI-0033

Title:

X-Linked Juvenile Retinoschisis - Clinical and Molecular Studies

Number:

03-EI-0033

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.

Sponsoring Institute:

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Eligible participants must satisfy the criteria below. Any individual contributing a blood sample to this research study will be considered a study participant.

1. Male diagnosed with X-linked Juvenile Retinoschisis (proband) or a female who is a suspected carrier (i.e.: mother of proband). Other family members of an affected male who wish to contribute may enroll, but will not be actively recruited.

EXCLUSION CRITERIA:

To be eligible, to participants must not satisfy the criteria below. However, the mother of the proband will not be excluded since only a blood draw will be required for eligibility.

1. Individuals with significant media opacities or other obstructions precluding a complete fundus examination including photography in all affected eyes.

2. Individuals who are unwilling or unable to contribute a blood sample for genotyping.

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

Contact(s):

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

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

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. Review. No abstract available.

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