Protocol Number: 05-EI-0096

Title:

Natural History and Genetic Studies of Usher Syndrome

Number:

05-EI-0096

Summary:

This study will explore clinical and genetic aspects of Usher syndrome, an inherited disease causing deafness or impaired hearing, visual problems, and, in some cases, unsteadiness or balance problems. Patients with type 1 Usher syndrome usually are deaf from birth and have speech and balance problems. Patients with type 2 disease generally are hearing impaired but have no balance problems. Patients with type 3 disease have progressive hearing loss and balance problems. All patients develop retinitis pigmentosa, an eye disease that causes poor night vision and eventually, blindness.

Patients of any age with Usher syndrome may be eligible for this study. Patients who have had eye and hearing evaluations are asked to send their medical records to the research team at the National Eye Institute (NEI) for review. They are also asked to have a blood sample drawn by a medical professional and sent to NEI for genetic analysis. Finally, they are interviewed about their family histories, particularly about other relative with eye disease. Patients who have not been evaluated previously have the following tests and procedures at NIH:

-Family medical history, especially regarding eye disease. A family tree is drawn.

-Blood draw for genetic studies of Usher syndrome.

-Eye examination to assess visual acuity and eye pressure, and to examine pupils, lens, retina, and eye movements.

-Electroretinogram (ERG) to test the function of visual cells. Wearing eye patches, the patient sits in a dark room for 30 minutes. Electrodes are taped to the forehead and 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 hollow, dark globe and sees a series of light flashes. Then a light is turned on inside the globe and more flashes appear. The contact lenses sense small electrical signals generated by the retina when the light flashes.

-Fluorescein angiography to evaluate the eye's blood vessels. A yellow dye is injected into an arm vein and travels to the blood vessels in the eyes. Pictures of the retina are taken using a camera that flashes a blue light into the eye. The pictures show if any dye has leaked from the vessels into the retina, indicating possible blood vessel abnormality.

-Hearing tests to help determine the patient's type of Usher syndrome. Tests to evaluate hearing include examination of both ears with an otoscope, evaluation of the middle ear and inner ear, and hearing tests using earphones that deliver tones and words the subject listens and responds to.

-Vestibular testing for balance function. Balance testing involves three procedures:

Videonystagmography: This test records eye movements with little cameras. First the patient follows the movements of some small lights. Next, while wearing goggles, the patient lies on an exam table and turns to the right and left. Lastly, a soft stream of air is blown into the patient's ears four times, once in each ear with cool air and once in each ear with warm air.

Rotary chair test: With electrodes placed on the forehead, the patient sits in a rotary chair in a dark room. Several red lights appear on the wall of the room and the patient follows the lights as they move back and forth. Then the chair turns at several speeds, all slower than a merry-go-round.

Vestibular evoked potential: Electrodes are placed behind the patient's ear and at the base of the neck. Seated in a reclining chair and wearing earphones, the patient hears a brief series of loud clicking sounds. When the sounds are on, the patient is asked to lift his or her head up a few inches from the chair. The electrodes record information from the muscles in the neck as the sounds enter the ear.

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:

The patients must have documentation of neurosensory hearing loss and retinitis pigmentosa and fulfill the clinical characteristics for USH1, USH2 as defined by the Usher syndrome consortium (Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MZ, Tranebjaerg L. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet. 1994 Mar 1;50(1):32-8). Patients with documented presence of retinitis pigmentosa, severe to profound hearing loss and absent vestibular responses will be categorized as Usher type I. Patients with documented presence of retinitis pigmentosa, moderate to severe hearing loss and normal vestibular responses will be categorized as Usher type II. Patients with documented presence of retinitis pigmentosa, progressive hearing loss and variable vestibular responses will be categorized as Usher type III.

EXCLUSION CRITERIA:

Intrauterine and childhood infections, and intrauterine and birth complications can result in trauma to both the auditory or visual system and a positive history for these conditions will necessitate exclusion from the study. Patients with concurrent inherited or acquired conditions that significantly affect the visual and/or auditory system and significantly alter the phenotype will be excluded. Also patients unwilling to provide a blood sample or unable to undergo the study procedures will be excluded from the study.

Special Instructions:

Currently Not Provided

Keywords:

Retnitis Pigmentosa Syndromic

Congenital Deafness

Usher Syndrome

Retinitas Pigmentosa and Deafness

Progressive Hearing Loss

Recruitment Keyword(s):

Usher Syndrome

Retinitis Pigmentosa

Congenital Deafness

Condition(s):

Retinitis Pigmentosa Syndromic

Congenital Deafness

Usher Syndrome

Retinitis Pigmentosa and Deafness

Progressive Hearing Loss

Usher Syndrome

Retinitis Pigmentosa

Congenital Deafness

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):

Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MZ, Tranebjaerg L. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet. 1994 Mar 1;50(1):32-8.

Keats BJ, Corey DP. The usher syndromes. Am J Med Genet. 1999 Sep 24;89(3):158-66. Review.

Fishman GA, Kumar A, Joseph ME, Torok N, Anderson RJ. Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol. 1983 Sep;101(9):1367-74.

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