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Ocular Albinism

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Ocular Albinism​

Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
 
 

Causes of Ocular Albinism

Ocular albinism is an inherited disorder.
 

Symptoms of Ocular albinism

The features of ocular albinism include reduced visual acuity, nystagmus ( rapid movement of the eyes back and forth), squint, and sensitivity to bright light. The reduced visual acuity may result in difficulty at school, such as trouble reading what is on a blackboard, except when the reading material is held very close, and difficulty with sports, particularly with small projectile objects.

Is Ocular Albinism a progressive or degenerative condition?

In general, as children with ocular albinism mature, their visual acuity seems to improve. Part of this improvement may be progressive maturation of the nerve pathways in the brain. Some of this, of course, is the maturation of the infant or child to understand the task of visual acuity, reading letters, and recognizing figures on a screen. However, there is no evidence that OA is degenerative, and most adolescents and young adults maintain vision throughout life. Individuals with OA never go completely blind from this disorder, although they may be legally blind.

Management of ocular albinism

Special Low-vision aids like telescopic lenses mounted on glasses (bioptics) are prescribed for close-up work and distance vision. The use of Braille is not necessary as children with albinism read the dots visually.

Tinted glasses may be used to reduce photophobia. Some patients do not like tinted lenses; they may benefit from wearing a cap or visor when outdoors.

Even contact lenses are given for vision correction which also decreases the nystagmus.

Frequently Asked Questions

Ocular albinism (OA) results from the inability of the normal pigment cells in the eyes (especially the iris and the retinal pigment epithelium) to produce normal amounts of pigment. Exactly how the reduced amount of pigment leads to reduced visual acuity (aka eyesight), nystagmus (aka involuntary rapid movement of the eye), and sensitivity to sunlight is not yet clear, nor is it necessarily true that the pigment itself is primarily responsible, but rather some other developmental pathway in the assembly line of the eye and of visual development.

That depends, especially on the care with which the parents look for subtle changes in the newborn infants. Oftentimes, the nystagmus is not present at birth but develops between three weeks and eight weeks after birth. The sensitivity to sunlight may not be appreciated for many months, and the reduced visual acuity may not be detected until an infant is cooperative enough to understand the task of recognizing figures, numbers, and other objects. However, in a family with Nettleship-Falls ocular albinism in which there are other known affected males and the mother is known to be a carrier, examination of a male infant at or shortly after birth should clarify whether any individual male is or is not affected.

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