Albinism

Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. Albinism is also associated with vision problems.

Albinism affects all persons of races. Parents of most children with albinism have normal eye color for their ethnic background. A high incidence of HPS exists among Puerto Ricans.
Both males and females can be affected. However, in OA 1 (X-linked recessive OA), males are affected, while females are only carriers.
All types of albinism are usually congenital.

Different gene defects characterize the numerous types of albinism.

Types of albinism include:
1. Oculocutaneous albinism (OCA)
2. OCA affects the skin, hair, and eyes.

There are several subtypes of OCA:
OCA1: OCA1 is due to a defect in the tyrosinase enzyme. There are two subtypes of OCA1:
• OCA1a.
• OCA1b.
OCA2: OCA2 is less severe than OCA1. It’s due to a defect in the OCA2 gene that results in reduced melanin production.
OCA3: OCA3 is a defect in the TYRP1 gene.
OCA4: OCA4 is due to a defect in the SLC45A2 protein.

Ocular albinism:
Ocular albinism is the result of a gene mutation on the X chromosome and occurs almost exclusively in males. This type of albinism only affects the eyes.

Hermansky-Pudlak syndrome:
This syndrome is a rare form of albinism that’s due to a defect in one of eight genes.

Chediak-Higashi syndrome:
Chediak-Higashi syndrome is another rare form of albinism that’s the result of a defect in the LYST gene. It produces symptoms similar to OCA, but may not affect all areas of the skin.

Griscelli syndrome:
Griscelli syndrome is an extremely rare genetic disorder. It’s due to a defect in one of three genes.

The primary symptoms of albinism can affect the skin, hair, eye color, and vision.

Skin: The most obvious sign is a lighter skin tone, but skin tone does not always differ substantially. In some people, levels of melanin slowly increase over time, darkening skin tone as the person ages. The skin will likely burn easily in to the sun. It does not usually tan.

After exposure to the sun, some people with albinism might develop:

  • Freckles,
  • moles, usually pink in color due to the reduced quantities of pigment,
  • lentigines, large freckle-like spots.

Hair: This can range in color from white to brown. Those of African or Asian descent tend to have yellow, brown, or reddish hair. As the individual ages, their hair color may slowly darken.

Eye color: This can also change with age and varies from very light blue to brown.

Low levels of melanin in the iris mean that the eyes can appear slightly translucent and, in certain light, look red or pink as the light reflects off the retina at the back of the eye.

Vision: Albinism always affects vision. Changes to eye function can includes: Nystagmus, Strabismus, Amblyopia, Myopia or hypermetropia, Photophobia, Optic nerve hypoplasia, Optic nerve misrouting, Astigmatism.

Vision problems related to albinism tend to be worst in newborns but improve rapidly over the first 6 months of life. Problems with eye health are likely to persist.

Albinism results from a mutation in one of several genes. One in 70 people are thought to carry the gene for albinism.

The genes in question are responsible for various aspects of the production of melanin by melanocytes in the skin and eyes. Commonly, the mutations interfere with the enzyme tyrosinase (tyrosine 3-monooxygenase). This enzyme synthesizes melanin from the amino acid tyrosine. Depending on the mutation, melanin production can either be slowed or completely stopped.

The amount of interference with melanin production, there are always problems with the visual system. This is because melanin plays a vital role in the development of the retina and the optic nerve pathways from the eye to the brain.

Because the disease is genetic, there are no cures. Treatment can relieve symptoms and prevent sun damage and watching for changes. Getting the right care for eye problems is essential.

Treatment may include:

  • Sunglasses to protect the eyes from the sun’s ultraviolet (UV) rays,
  • Protective clothing and sunscreen to protect the skin from UV rays,
  • Prescription eyeglasses to correct vision problems & dark glasses to protect the eyes from the sun,
  • Surgery on the muscles of the eyes to correct abnormal eye movements,
  • Regular eye exams

Watch for any skin changes and use sunblock for protection.

Surgery on the optical muscles can sometimes minimize the shaking in nystagmus.

Procedures to minimize strabismus can make it less noticeable, but surgery will not improve vision. The level of success in reducing symptoms varies between individuals.

Albinism does not worsen with age. A child with albinism can flourish and achieve the same education and employment as a person without the condition.

Doctor may suggest for surgery. So, need to visit a doctor for monitoring the case.

There is also a higher risk of skin cancer. People with albinism should use sun protection cream of SPF 30 or higher and report any new moles or other skin changes to a doctor.

Patient also needs some education to handle worsening situation.

  • Oxford hand Book of medical Dermatology
  • Clinical Dermatology
  • Roxburgh’s common skin diseases

Albinism

TUI - Tibot Urgency Index

Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. Albinism is also associated with vision problems.

Albinism affects all persons of races. Parents of most children with albinism have normal eye color for their ethnic background. A high incidence of HPS exists among Puerto Ricans.
Both males and females can be affected. However, in OA 1 (X-linked recessive OA), males are affected, while females are only carriers.
All types of albinism are usually congenital.

Different gene defects characterize the numerous types of albinism.

Types of albinism include:
1. Oculocutaneous albinism (OCA)
2. OCA affects the skin, hair, and eyes.

There are several subtypes of OCA:
OCA1: OCA1 is due to a defect in the tyrosinase enzyme. There are two subtypes of OCA1:
• OCA1a.
• OCA1b.
OCA2: OCA2 is less severe than OCA1. It’s due to a defect in the OCA2 gene that results in reduced melanin production.
OCA3: OCA3 is a defect in the TYRP1 gene.
OCA4: OCA4 is due to a defect in the SLC45A2 protein.

Ocular albinism:
Ocular albinism is the result of a gene mutation on the X chromosome and occurs almost exclusively in males. This type of albinism only affects the eyes.

Hermansky-Pudlak syndrome:
This syndrome is a rare form of albinism that’s due to a defect in one of eight genes.

Chediak-Higashi syndrome:
Chediak-Higashi syndrome is another rare form of albinism that’s the result of a defect in the LYST gene. It produces symptoms similar to OCA, but may not affect all areas of the skin.

Griscelli syndrome:
Griscelli syndrome is an extremely rare genetic disorder. It’s due to a defect in one of three genes.

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Dr. Lora Smith

MBBS (Dhaka), DGO (DU) Ex SR. Gynaecologist & Obstetrician

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