Ocular Albinism

Overview

Ocular albinism is a hereditary disorder affecting mostly the eyes. The retina, the light-sensitive tissue located in the back of the eye, and the iris, the colored portion of the eye, both have less pigmentation as a result of this condition. Pigmentation in the eye plays a crucial role in maintaining normal vision.

Severe visual acuity impairment and difficulties combining the images from both eyes to perceive depth (stereoscopic vision) are characteristic features of ocular albinism.

The condition is also linked to other disorders of the eyes, such as nystagmus (rapid, involuntary eye movements), strabismus (Misaligned eyes), and photophobia (heightened sensitivity to light). A large number of affected people also have abnormalities related to the optic nerves, which transmit visual data from the eye to the brain.

Ocular albinism does not significantly affect skin or hair color, compared to several other types of the condition. People with the condition may have a somewhat lighter complexion than other members of their family though these changes are typically slight.

Nettleship-Falls type 1, also referred to as type 1, is the most common kind of ocular albinism. Although far less common, other types of ocular albinism may also present with extra symptoms, like hearing loss.

Symptoms

The retina and the nerves behind the eyes are affected by the condition. The layer of tissue at the back of the eye called the retina is responsible for transmitting what a person sees to the brain. Because the retina doesn’t develop properly, things appear blurry. It is unable to produce a sharp image, and the nerves behind the eyes are unable to provide a clear image to the brain.

The appearance of the eyes is another indication. The pigment melanin, which gives skin, hair, and eyes their color, is not produced in sufficient amounts in a person with albinism. The majority of individuals with ocular albinism have blue eyes. However, the eyes may seem pink or red due to the visible blood vessels within the colored iris.

Other sign and symptoms of ocular albinism includes:

• Uncontrollably fast eye movements.
• Light sensitivity or photosensitivity.
• Perception issues pertaining to depth.
• Strabismus, commonly known as crossed eyes, refers to a condition where the eyes are unable to align and focus on the same point simultaneously.
• Lazy eye, also known as crossed eyes.
• Pale eyebrows and eyelashes are common.

See a healthcare provider if your child shows any albinism indications.

A healthcare provider may observe a lack of pigment in the hair or skin, which can affect the eyelashes and eyebrows when your child is born. Your child’s healthcare provider will probably prescribe an eye checkup and monitor any changes in your child’s vision and skin color.

Causes

Ocular albinism is a genetic condition. The majority of the time, it is caused by an issue with a gene that they inherited from their mothers. Typically, women who inherit this gene do not exhibit any symptoms. The most common kind, known as type 1 or Nettleship-Falls, almost exclusively affects men. Approximately 1 in 60,000 males are affected by this condition.

The other kind of ocular albinism is far less common. Boys and girls can be born with it, and the gene for it is carried by both parents. They may also have lighter complexion and hair than other family members. There is a 1 in 4 probability that a child will have this gene if both parents do.

Risk factor

Whether one or both parents have an affected gene determines risk factors. Different inheritance patterns correspond to different forms of albinism.