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CompletedNCT00001153Updated Mar 4, 2008

Visual Function and Ocular Pigmentation in Albinism

An observational study in Albinism, Albinism, Ocular and Albinism, Oculocutaneous, sponsored by National Eye Institute (NEI). Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2008-03-04.

Sponsored by National Eye Institute (NEI) · Observational

Study type
Observational
Enrollment
130
Sex
All
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Study 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.

Read the 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.

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Conditions studied

  • Albinism
  • Albinism, Ocular
  • Albinism, Oculocutaneous

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Keywords

  • Albinism
  • Ocular Albinism
  • Oculocutaneous Albinism
  • Tyrosinase Negative
  • Tyrosinase Positive
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In context

Albinism

17 studies on the registry are indexed under Albinism; 8 are open to participants now.

This study's enrollment of 130 is close to the median of 140 across 10 observational studies indexed under Albinism.

Browse Albinism studies →

Lead sponsor

National Eye Institute (NEI) is the lead sponsor of 272 studies on the registry; 17 are open to participants now.

Of its 8 completed or terminated interventional studies of FDA-regulated products, 8 (100%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No

Eligibility 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.

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Study design

Enrollment
130 participants
06

Study locations

1 site
  • National Eye Institute (NEI)
    Bethesda, Maryland 20892, United States
07

References and documents

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. Erratum In: Invest Ophthalmol Vis Sci 1992 Mar;33(3):691-2. PubMed 1651299 ↗
  • 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. doi: 10.1016/s0161-6420(13)31336-0. PubMed 8115151 ↗
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Timeline

Tracking since Sep 25, 2026
Not marked actual or estimatedDates not marked actual or estimated

The record gives a start of Jun 1976 and a completion of May 2000. It does not say whether these dates are actual or estimated.

How these figures are worked out, and which studies are left out of them.

Registered
Nov 3, 1999
First posted
Dec 10, 2002
Start
Jun 1976
Completion
May 2000
Last update
Mar 4, 2008
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
No changes since tracking began. The registry record was last updated on Mar 4, 2008, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00001153
First posted
Dec 10, 2002
Start date
Jun 1976
Completion
May 2000
Last update
Mar 4, 2008
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in May 1999. You cannot join it, but the record below documents what was studied.

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