What is Oculocutaneous Albinism? [Explained by a Scientist]

Oculocutaneous Albinism, commonly referred to as OCA or simply Albinism, is a genetic disease that affects approximately 1 in 17000 people worldwide.
People with OCA are born with white hair, including eyebrows and eyelashes, and whitish-pink skin. Depending on the type of OCA, affected people may stay unpigmented for the rest of their lives or gain some degree of pigmentation in later years. Aside from white hair and skin, people with OCA also have less or no pigmentation in their eyes and often suffer from poor vision and other eye abnormalities.
OCA is an autosomal recessive disorder, which means both parents must carry the mutated gene and pass it on for their child to develop the disease.
There are multiple different types of OCA. OCA1 has a prevalence of about 1 in 40,000 people and is most common among Caucasians. There are two subtypes of OCA1, OCA1A and OCA1B. OCA1A is the most severe of all OCA types and is characterized by the complete absence of pigmentation all throughout life. OCA1B on the other hand, presents with varying degrees of pigmentation that develop later in life. The same is true for OCA2-OCA7. The most common form of OCA is OCA2 with a prevalence of about 1 in 36,000 people and is mostly found in Africa. OCA3 is also most common in African countries and very rare in Caucasians. OCA4 has a very high prevalence in Japan but can be found in other countries as well. OCA5-7 are extremely rare and will not be covered in this video.
Before we dive into genetic differences between different types of OCA, let’s cover some background information to understand what exactly happens in people with albinism.
The main characteristic, or phenotype, people with OCA present with is the absence or reduction of pigmentation. Specifically, this means affected people produce little or none of the pigment called melanin. Melanin is produced in a special cell type called melanocytes and within melanocytes, melanin is produced in the cell compartment, or organelle, called melanosome.
To better understand this, cell types can be compared to companies. Companies usually consist of many departments that all have their own functions and responsibilities to make sure that the company runs smoothly. In cells, these different departments are called organelles. Just like many companies share the same departments, let’s say a finance department, most cell types have the same organelles, such as the nucleus for example. However, more specialized companies may have departments that other companies don’t have. Similarly, special cell types have organelles that other cell types don’t have. The melanosomes within melanocytes are one example of specialized organelles within special cell types.
Literature used
OCA
www.ncbi.nlm.nih.gov/pmc/arti...
www.ncbi.nlm.nih.gov/pmc/arti...
www.ncbi.nlm.nih.gov/books/NB...
www.ncbi.nlm.nih.gov/pmc/arti...
Tyrosinase protein
pubmed.ncbi.nlm.nih.gov/11041...
Melanin and UV radiation
www.ncbi.nlm.nih.gov/pmc/arti...
A Cell's World.
Explained by a Scientist.

[@Raising_zzz]

Hi, my daughter has albinism too, we create albinism awareness with our content, thanks for sharing this amazing video 😘

[@sethwoodman9353]

thank you🙏🏻i have oca type 1 a and tbh I struggle to find accurate scientific information on my condition that actually goes into details about how and not just why, (I am legally blind so this video made it a lot easier to learn about it without worrying about eye strain and is greatly appreciated)

[@katharinahuse3199]

Very interesting!

[@UweJMeyer]

Madam,thanks for this brilliant presentation.I have to be honest, that I have to dive deep into my knowlegde of biology, and I have understand very well what you have explainened your ordiance,but I haven't a deeply expertice of these stuff.My wife and I will follow you in anticipation of new presentations.👍🇺🇸Greatings from Germany

[@tudormiller887]

I have Tyrosinemia Type 2.

[@RareBoon]

It’s not an disease