Week 1: Oculocutaneous Albinism at a Glance

Definition

Let’s first break apart ‘oculocutaneous albinism.’ ‘Oculo-‘ refers to the eye (2), ‘cutaneous’ relates to the skin (5), and ‘albinism’ refers to lack of pigmentation (4). Together, ‘oculocutaneous albinism’ means the lack of pigmentation to the skin, eyes, and hair. We will be focusing on oculocutaneous albinism type 1, or OCA1, which is a more severe type of albinism (8).

Cause

The primary cause of OCA1 is DNA mutations affecting the TYR gene of the tyrosinase enzyme (7). Don’t worry, we will get to this in a later post!

Type of Inheritance Pattern

OCA1 follows the autosomal recessive inheritance pattern, meaning that both parents would need to contribute one mutated gene in order for the disorder to manifest in the baby (8). The parents themselves do not need to display the symptoms of oculocutaneous albinism (1).

Signs and Symptoms

Those with OCA1 can develop symptoms as early as during the newborn and infant stages. Some of the signs and symptoms are very light-colored skin and irises, white hair, vision problems (6), and sensitivity to the sun and other light sources (3).

Socioemotional Difficulties

In elementary school, I heard the term “albino” being thrown around to label and tease kids with light-colored hair, eyes, and skin whether they had albinism or not (I know, that’s messed up). Those with albinism may also be discriminated against for how they look or the devices they use to aid their daily tasks. Heightened feelings of stress and inferiority may result (3).

Treatment

Limiting sun exposure and having a medical support team that can offer advice for taking care of the eyes and skin can help treat symptoms (3).

References

1. Cleveland Clinic. (2022, May 21). Autosomal Dominant & Autosomal Recessive Inheritance & Disorders. Cleveland Clinic. https://my.clevelandclinic.org/health/body/23078-autosomal-dominant–autosomal-recessive
2. Collins. (2023). Oculo- Definition and Meaning | Collins English Dictionary. https://www.collinsdictionary.com/dictionary/english/oculo
3. Mayo Foundation for Medical Education and Research. (2022, December 24). Albinism. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184
4. Merriam-Webster. (2023a). Albinism Definition & Meaning. Merriam-Webster. https://www.merriam-webster.com/dictionary/albinism
5. Merriam-Webster. (2023b). Cutaneous Definition & Meaning. Merriam-Webster. https://www.merriam-webster.com/dictionary/cutaneous
6. U.S. Department of Health and Human Services. (2023, February). Oculocutaneous albinism type 1 – about the disease. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/4037/oculocutaneous-albinism-type-1
7. U.S. National Library of Medicine. (2007, March 1). Tyr Gene. MedlinePlus. https://medlineplus.gov/genetics/gene/tyr/#conditions
8. U.S. National Library of Medicine. (2023, March 17). Oculocutaneous Albinism. MedlinePlus. https://medlineplus.gov/genetics/condition/oculocutaneous-albinism/