- Lethal subtype of Oculocutaneous albinism
- Tyrosinase-positive oculocutaneous albinism
- Skin can be from white to olive
- Hair color can be from white to brown
- Bleeding diathesis from platelet storage pool deficiency
- Pulmonary Fibrosis
- Granulomatous colitis
- Iris pigment abnormalities with iris transillumination
- Reduced retinal pigment
- Foveal hypoplasia
- VA usually between 20/50 to 20/400
- Nystagmus
- Abnormal increase in crossing of optic nerve fibers at the optic chiasm
- Clinical findings above
- Platelet electron microscopy shows absent dense bodies
- Most often used to confirm diagnosis
- Increased bleeding time
- Impaired platelet aggregation
- Urinary ceroid lipofuscin deposits is characteristic but virtually never used for diagnosis
- Molecular diagnosis available,
- Testing for HPS 1-8 available clinically
- HPS 9 (BLOC1S6, PLDN) is available on a research basis only
- Correct Refractive Error
- Protect skin from the sun
- Protracted bleeding with surgery- appropriate treatment needed
- gelfoam, DDAVP, platelet transfusions
- Supplemental Oxygen
- Lung Transplant
- Anti-inflammatory or immunosuppressive agents for colitis
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