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Trial record 1 of 18 for:    Albinism
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Visual Function and Ocular Pigmentation in Albinism

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001153
First received: November 3, 1999
Last updated: March 3, 2008
Last verified: May 1999
  Purpose

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
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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001153

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

Publications:
ClinicalTrials.gov Identifier: NCT00001153     History of Changes
Other Study ID Numbers: 760207, 76-EI-0207
Study First Received: November 3, 1999
Last Updated: March 3, 2008
Health Authority: United States: Federal Government

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

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

ClinicalTrials.gov processed this record on November 24, 2014