Achromasia: A Rare Condition That Affects Skin, Hair, and Eyes
Achromasia, also known as albinism, is a set of inherited disorders that cause scant or no production of melanin, a natural skin pigment. The type and amount of melanin an individualâs body produces determines the color of their skin, hair, and eyes. Melanin also has a role in the development of the optic nerves. Accordingly, the common signs and symptoms of achromasia tend to affect the hair, skin, and eyes.
Causes of Achromasia
The most common causes of achromasia result from inheriting a mutation in one of the several genes that are responsible for the production of melanin. Oculocutaneous albinism (OCA) is the most common type of achromasia, and it occurs when an individual receives two copies of mutated genes, one copy from each parent. When a disorder is inherited in this way, it is called an autosomal recessive disorder. Inheritance of these mutations is a result of a mutation in one of the eight OCA genes, such as the TYR gene, TYRP1 gene, OCA2 gene, and others. Mutations in OCA genes can cause decreased pigmentation in the skin, eyes, and hair, as well as the characteristic visual problems. An individualâs particular level of pigmentation depends on the specific OCA gene that is mutated.
Signs and Symptoms of Achromasia
The signs and symptoms of achromasia vary depending on the type and severity of the condition. The most noticeable features are related to the lack or reduced amount of melanin in the skin, hair, and eyes. Hair color of individuals with achromasia can range from white to brown; however, those of African or Asian descent may have yellowish or reddish hair. Hair color may darken with age but varies from person to person. Eyelashes and eyebrows are often very similar in hue to the individualâs hair color and are typically pale. Eye color can range from light blue to brown and, like hair color, can also darken with age. Skin coloring for those with achromasia ranges from white to brown, but it is a less distinct sign of the condition since an individual with achromasia can have nearly the same skin tone as that of a parent or sibling who does not have achromasia.
Oftentimes individuals with achromasia are more prone to the formation of freckles, moles, and sunburns upon sun exposure. This increased sensitivity to sunlight lends to an increased risk of developing skin cancer. Though hair, eyes, and skin are the most recognizable ways to identify achromasia, visual impairment is an additional key feature of achromasia. Visual impairments that may arise include an inability of both eyes to focus on the same point or move in unison (strabismus), extreme nearsightedness (myopia), extreme farsightedness (hyperopia), or rapid and involuntary back and forth movements of the eye (nystagmus). Other common visual difficulties include sensitivity to light (photophobia), abnormal curvature of the front of the eye causing blurred vision (astigmatism), abnormal development of the retina causing reduced vision (retinal hypoplasia), poor depth perception, and, in some cases, legal blindness.
Diagnosis and Treatment of Achromasia
Achromasia can be diagnosed by a physical examination of the skin, hair, and eyes. Genetic testing can also be used to confirm the diagnosis and identify the specific type of achromasia. There is no cure for achromasia; however, treatments can help manage some of the symptoms and complications. For example, wearing sunglasses or tinted contact lenses can help reduce photophobia and improve vision. Applying sunscreen or wearing protective clothing can help prevent sunburns and skin cancer. Regular eye exams and corrective lenses can help monitor and improve vision problems. Individuals with achromasia may also benefit from social support and counseling to cope with any emotional or psychological challenges they may face due to their condition.
Achromasia is a rare condition that affects the production of melanin in the body. It causes reduced or absent pigmentation in the skin, hair, and eyes, as well as