Overview
Albinism is a group of disorders, typically oculocutaneous albinism (OCA), passed down in families where the body produces little or no melanin, a substance that determines the color of skin, hair, and eyes. People with albinism have vision problems due to the lack of melanin in their eyes, and their skin, hair, and eyes have distinct characteristics such as very light-colored skin, white or light-colored hair, and very light blue or brown eyes. There is no cure for albinism, but individuals can take measures to protect their skin and eyes and receive proper care.
Understanding the disease
Symptoms
The symptoms of albinism involve skin, hair, eye color, and vision. People with albinism have very light-colored skin, white or light-colored hair, and very light-colored or colorless eyes. The type and amount of melanin in their body determine their skin, hair, and eye color. Albinism also affects the development and function of the eyes, causing vision problems. People with albinism are sensitive to the effects of the sun, increasing their risk of skin cancer and other complications.
Development
Albinism develops due to changes in genes that provide instructions for producing melanin. Melanin is made by cells called melanocytes, which are found in the skin, hair, and eyes. Different types of albinism can occur based on which gene is affected and the extent of the change. Some people with albinism may have no melanin at all or a reduced amount, leading to characteristic features such as pale skin, white hair, and light-colored eyes that are sensitive to bright light. The hair color can range from very white to brown, and eye color can vary from very light blue to brown. Albinism is inherited and can be passed down in families, with various types being classified based on inheritance patterns and affected genes. There is no cure for albinism, but individuals can take measures to protect their skin and eyes and receive appropriate care for related health issues.
Assessment and Diagnosis
Triage
If you observe signs of albinism in your baby at birth, such as a lack of color in hair or skin affecting the eyelashes and eyebrows, you should contact your healthcare provider. They will likely order an eye exam and closely monitor any changes in your child's skin color and vision. If your child with albinism experiences frequent nosebleeds, easy bruising, or long-term infections, contact your healthcare provider. These symptoms may suggest rare but serious hereditary conditions that include albinism. Remember that the term "person with albinism" is preferred to avoid the negative impact of other terms. Seek guidance from a genetic counselor if a family member has albinism to understand the type of albinism and the chances of having a future child with albinism.
Diagnosis
Diagnosis of albinism is based on a physical exam that includes checking skin and hair pigmentation, a thorough eye exam, comparison of the child's pigmentation to that of other family members, and a review of the child's medical history, including any history of bleeding, bruising, or infections. A specialist in vision and eye disorders called an ophthalmologist usually performs the eye exam, which includes assessing the retina to determine if there are signs of problems with eye development or function. Genetic testing can also be done to determine the type of albinism and the risk of passing down the gene change to children.
Management and Treatment
Complications
Complications of albinism can include skin and eye complications, as well as social and emotional challenges. People with albinism have skin that is sensitive to light and sun, which can lead to sunburn, sun damage, rough and thickened skin, and an increased risk of skin cancer. Eye complications can impact learning, employment, and the ability to drive, as vision problems are a key feature of all types of albinism.
Treatment
Treatment for albinism primarily focuses on managing the associated vision and skin issues. The primary care provider may collaborate with specialists such as ophthalmologists and dermatologists to develop a personalized treatment plan. This may include regular eye exams, prescription lenses, and potential surgical interventions for eye muscle issues or strabismus. Skin care entails annual skin exams to screen for skin cancer and early detection of suspicious moles. For those with Hermansky-Pudlak or Chediak-Higashi syndromes, specialized care and preventive measures are necessary. Additionally, protective clothing, UV-blocking sunglasses, and photochromic lenses can help protect the eyes and skin. Education and accommodations at school may also be necessary to support children with albinism in their learning environment.
Preparing for medical consultation
To prepare for an appointment for albinism, you can take the following steps:
- Gather information: Familiarize yourself with the different types of albinism and their symptoms, as well as the diagnostic process for albinism. This will help you better understand your child's condition and what to expect during the appointment.
- Make a list of concerns: Write down any questions or concerns you have about your child's condition, such as symptoms, treatments, or lifestyle changes. This will help you make the most of your time with the healthcare provider.
- Prepare your child: Explain to your child that you're going to see a doctor to check on their eyes and skin. You can reassure them that it's a routine appointment and that the doctor will help keep their eyes healthy.
- Organize medical records: Gather your child's medical history, including previous appointments, test results, and any medications they're currently taking. This information will be helpful for the healthcare provider to review during the appointment.
- Schedule a comprehensive eye exam: An eye exam by an ophthalmologist is essential for diagnosing and managing albinism. Make sure to include this in your appointment plan.
- Consider genetic testing: Genetic testing can help determine the type of albinism and the risk of passing down the gene change to children. Discuss this option with your healthcare provider to see if it's appropriate for your family.
- Prepare for skin care discussions: If skin care and screening for skin cancer are part of the appointment, ensure your child has had a recent skin exam and discuss any concerns with the healthcare provider. By preparing in advance, you can ensure a more productive appointment and better understand your child's condition and the recommended course of treatment.