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Visual Function and Ocular Pigmentation in Albinism

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: March 3, 2008
Last verified: May 1999
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.

Albinism Albinism, Ocular Albinism, Oculocutaneous

Study Type: Observational
Official Title: Visual Function and Ocular Pigmentation in Albinism

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 130
Study Start Date: June 1976
Estimated Study Completion Date: May 2000
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.

Ages Eligible for Study:   Child, Adult, Senior
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.

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Please refer to this study by its identifier: NCT00001153

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

Publications: Identifier: NCT00001153     History of Changes
Other Study ID Numbers: 760207
Study First Received: November 3, 1999
Last Updated: March 3, 2008

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

Additional relevant MeSH terms:
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 processed this record on June 23, 2017