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Trial record 2 of 6 for:    ocular albinism

Visual Function and Ocular Pigmentation in Albinism

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00001153
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 4, 2008
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:
To study the relationship between visual function and ocular (iris, retina/choroidal) pigmentation in patients with albinism and other hypomelanotic disorders. To identify the carrier state in relatives of patients with ocular albinism.

Condition or disease
Albinism Albinism, Ocular Albinism, Oculocutaneous

Detailed Description:
Visual function and ocular pigmentation are being studied in patients with albinism and other disorders associated with hypopigmentation. The degree of ocular pigmentation is assessed clinically by estimating the melanin content of the iris, retinal pigment epithelium, and choroid. Visual function is measured in the conventional manner to study central vision, and electrophysiological methods to detect a misrouting of the visual pathways. The purpose of this study is to document the visual deficit and the pigmentary changes of patients with albinism, to observe their natural course, and to determine whether misrouting of the visual pathways is present and is correlated with pigmentation.

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Study Type : Observational
Enrollment : 130 participants
Official Title: Visual Function and Ocular Pigmentation in Albinism
Study Start Date : June 1976
Study Completion Date : May 2000

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Patients have been recruited into the study by referral from an ophthalmologist or pediatrician.

Entrance into the study was dependent upon clinical evidence of decreased or absent pigmentation in skin, hair, and/or eyes.

The definition was purposefully broad to include the broad range of phenotype variations and clinical heterogeneity.

The purpose of the study id to be able to document iris and retina/choroidal pigmentation and correlated these finding with visual function.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00001153

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United States, Maryland
National Eye Institute (NEI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Eye Institute (NEI)

Layout table for additonal information Identifier: NCT00001153     History of Changes
Other Study ID Numbers: 760207
First Posted: December 10, 2002    Key Record Dates
Last Update Posted: March 4, 2008
Last Verified: May 1999

Keywords provided by National Institutes of Health Clinical Center (CC):
Ocular Albinism
Oculocutaneous Albinism
Tyrosinase Negative
Tyrosinase Positive

Additional relevant MeSH terms:
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Albinism, Oculocutaneous
Albinism, Ocular
Eye Diseases, Hereditary
Eye Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Skin Diseases, Genetic
Pigmentation Disorders
Skin Diseases
Metabolic Diseases