Visual Function and Ocular Pigmentation in Albinism
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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 |
| Estimated Enrollment: | 130 |
| Study Start Date: | June 1976 |
| Estimated Study Completion Date: | May 2000 |
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 |
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 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 Eye Diseases, Hereditary Eye Diseases Genetic Diseases, Inborn Amino Acid Metabolism, Inborn Errors |
Metabolism, Inborn Errors Skin Diseases, Genetic Hypopigmentation Pigmentation Disorders Skin Diseases Metabolic Diseases |
ClinicalTrials.gov processed this record on May 19, 2013