Visual Function and Ocular Pigmentation in Albinism
Data Collection
Amino Acid Metabolism, Inborn Errors+13
+ Eye Diseases
+ Metabolic Diseases
Summary
Study start date: June 1, 1976
Actual date on which the first participant was enrolled.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.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.130 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
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.
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location