What is Albinism?
Albinism is the congenital lack of or decreased amount of pigment or melanin in the tissues of the body. It is an autosomal recessive disease associated with the development of melanin in the body. The prevalence in the United States is nearly 1 in 40,000 and is much more common in some areas of Africa.
Types of Albinism
Oculocutaneous albinism is the most common condition of the hypopigmentation diseases with varying degrees of involvement of the eyes, skin, and hair.
Ocular albinism is less common with only involving the eyes.
Clinical Features of Albinism
The person has a pale white milky appearance of the skin, white or light hair, and pink appearing eyes.
Clinical Features of the Eye
Absence of Iris pigmentation
The eye has the appearance of being pink secondary to the lack of pigment in the iris. The amount of pigment in the iris determines the color of the iris. People with blue eyes have less pigment than people with brown eyes. Blue eye people do have pigment in their eyes just to a lesser degree.
The vision can vary from near normal vision to worse than 20/200 (legally blind). The vision loss is proportional to the amount of pigment present in the eye.
Nystagmus is the involuntary and rhythmic movement of the eyes in unison with each other.
Strabismus or Crossed Eyes
The incidence of strabismus is higher in people with albinism than the general population.
Photophobia or Sensitivity to Light
Due to the absence or decreased pigment in the eye, more light enters the eye resulting in photophobia.
Without proper amounts of melanin, the fovea will not develop correctly. The fovea is the central portion of the macula and is responsible for our clear central vision.
Treatment and Management
Once the diagnosis is made, patients should be careful about exposure to the sun as there is an increased incidence of basal cell and squamous cell skin cancers.
There are treatments under investigation using L-Dopa, Nitisinone, and the use of aminoglycosides.
Albinism is an autosomal recessive disease in which the development of pigment or melanin is affected. This can vary from mild to severe. The ocular symptoms are related to the amount of pigment present. There is no treatment at this time and being careful about exposure to sunlight is important.