Clinical trial: Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism (NCT00808106)

Eligibility criteria:
-  INCLUSION CRITERIA:

        Patients will be screened by requesting copies of the following materials at the time they
        contact the program:

          1. An indication of ethnic background by the potential participant, which may be unknown
             .

          2. Photographs of the potential participant that give an indication of skin
             complexion/pigmentation and undyed hair color (if available).

          3. Ophthalmology or other visual specialist records documenting visual exam
             characteristics, potentially including iris transillumination, visual evoked potential
             and or characteristic eye findings (if available).

          4. Genetic testing results (if available).

        EXCLUSION CRITERIA:

        Exclusion from the study will be made based on one or more of the following criteria:

          1. Significant evidence that the potential participant has either OCA1A or OCA2 with a
             typical presentation, AND has an ethnic background that is wellrepresented in the
             current study (proportion in study exceeding the proportion in the United States
             population).

             The rationale for this exclusion is that: 1) from a biologicaland clinicalresearch
             perspective, we have an adequate number of OCA1A/

             OCA2 cases in the current study population; and 2) that, despite this, persons with
             ethnicities that are underrepresented in the study may inform our understanding of
             populationlevel molecular patterns in OCA1A/ OCA2 and cultural implications of
             albinism.

          2. Persons who are under 1 year of age. This exclusion occurs because there is no urgency
             for a very early evaluation. Also, the Clinical Center staff and resources are more
             suited for the care of older children.

          3. Persons who are too sick to travel safely to the NIH Clinical Center.

          4. A judgment by the principal investigator that clinical resources are not available to
             enroll additional patients at any given time.

          5. Persons who are currently incarcerated.

          6. Adults who are incompetent to consent to the protocol.

          7. Persons who have been diagnosed with a known nonoculocutaneous disorder of
             hypopigmentation such as HemanskyPudlak Syndrome, ChediakHigashi Syndrome, or
             Griscelli Syndrome.

          8. Persons who have been diagnosed with a known disorder of focal hypopigmentation such
             as Waardenburg syndrome.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 1 Year old.
Subject must be at most 80 Years

Patient description (medical language): A 4-year-old boy comes to the office for the follow up of his confirmed oculocutaneous albinism.  The patient was born at 38 weeks gestation with no complications.  Vital signs are normal.  Weight and height are at the 50th percentile.  On examination, iris transillumination is present, and there are no apparent foveae on funduscopic examination.  Optic nerves are small and gray.  All the hairs including eyebrows and lashes are white.

Patient description (patient's own words): I brought my four-year-old son to his follow-up consultation for his albinism. All his hair is white, even lashes and eyebrows. My baby was born at 38 weeks pregnant with no complications whatsoever. During the consultations his vitals were normal and now his weight and height are at the 50th percentile. The doctor did an eye exam and it seems that his iris has a kind of transillumination, and there are no foveae. The doctor told me that his optic nerves are small and gray.

Does the patient match the trial criteria? 1