Oculocutaneous Albinism—Eye Diseases

Some eye problems are minor and don’t last long. But some can lead to a permanent loss of vision.

Common eye problems include

• Refractive errors
• Cataracts – clouded lenses
• Optic nerve disorders, including glaucoma
• Retinal disorders – problems with the nerve layer at the back of the eye
• Macular degeneration – a disease that destroys sharp, central vision
• Diabetic eye problems
• Conjunctivitis – an infection also known as pinkeye

Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation.

NIH: National Eye Institute

• Anisocoria (Medical Encyclopedia)
• Choroidal dystrophies (Medical Encyclopedia)
• Coloboma of the iris (Medical Encyclopedia)
• Episcleritis (Medical Encyclopedia)
• Eye and orbit ultrasound (Medical Encyclopedia)
• Eye burning – itching and discharge (Medical Encyclopedia)
• Eye pain (Medical Encyclopedia)
• Eye redness (Medical Encyclopedia)
• Fluorescein angiography (Medical Encyclopedia)
• Fluorescein eye stain (Medical Encyclopedia)
• Heterochromia (Medical Encyclopedia)
• Ophthalmoscopy (Medical Encyclopedia)
• Orbit CT scan (Medical Encyclopedia)
• Orbital pseudotumor (Medical Encyclopedia)
• Photophobia (Medical Encyclopedia)
• Pinguecula (Medical Encyclopedia)
• Pterygium (Medical Encyclopedia)
• Pupil – white spots (Medical Encyclopedia)
• Scleritis (Medical Encyclopedia)
• Slit-lamp exam (Medical Encyclopedia)
• Standard ophthalmic exam (Medical Encyclopedia)
• Subconjunctival hemorrhage (Medical Encyclopedia)
• Uveitis (Medical Encyclopedia)

Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.Several additional types of this disorder have been proposed, each affecting one or a few families.