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Visual Function and Ocular Pigmentation in Albinism

Completed
Conditions
Albinism
Albinism, Ocular
Albinism, Oculocutaneous
Registration Number
NCT00001153
Lead Sponsor
National Eye Institute (NEI)
Brief Summary

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.

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.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
130
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

National Eye Institute (NEI)

🇺🇸

Bethesda, Maryland, United States

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