Visual Function and Ocular Pigmentation in Albinism - Full Text View

Sponsor:	National Eye Institute (NEI)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00001153

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:

Genetics Home Reference related topics: argininosuccinic aciduria citrullinemia Lenz microphthalmia syndrome N-acetylglutamate synthase deficiency ocular albinism oculocutaneous albinism oculofaciocardiodental syndrome ornithine translocase deficiency Peters plus syndrome Help Me Understand Genetics

U.S. FDA Resources

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

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

National Eye Institute (NEI)

More Information

Publications:

Apkarian P, Shallo-Hoffmann J. VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study. Invest Ophthalmol Vis Sci. 1991 Aug;32(9):2653-61.

Bouzas EA, Caruso RC, Drews-Bankiewicz MA, Kaiser-Kupfer MI. Evoked potential analysis of visual pathways in human albinism. Ophthalmology. 1994 Feb;101(2):309-14.

Study ID Numbers:	760207, 76-EI-0207
Study First Received:	November 3, 1999
Last Updated:	March 3, 2008
ClinicalTrials.gov Identifier:	NCT00001153 History of Changes
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:

Metabolic Diseases
Skin Diseases
Amino Acid Metabolism, Inborn Errors
Eye Diseases
Pigmentation Disorders
Albinism
Metabolism, Inborn Errors

Hypopigmentation
Genetic Diseases, Inborn
Albinism, Ocular
Eye Diseases, Hereditary
Albinism, Oculocutaneous
Skin Diseases, Genetic

ClinicalTrials.gov processed this record on February 08, 2010