Visual Function and Ocular Pigmentation in Albinism

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.

Completed

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Key information

Conditions

Albinism Albinism, Ocular Albinism, Oculocutaneous Amino Acid Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hypopigmentation Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pigmentation Disorders Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

National Eye Institute (NEI)

Bethesda, Maryland, 20892, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Sponsors and collaborators

Lead sponsor

National Eye Institute (NEI)

Nih

Registry information

Important dates

Study start: 1976
Study completion: 2000
First posted: Dec 10, 2002
Registry last updated: Mar 4, 2008

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed