Albinism is diagnosed by a physical exam which assesses the eyes, skin, and hair pigmentation 13. The pigmentation of the child is compared to family members 13. Determining the exact type of albinism is more complicated as the different types of albinism present similarly. Genetic testing is required to determine the type of albinism 13. Albinism is typically diagnosed following birth or during early childhood 13.
An image of a person with albinism 14.
Photo by Eyasu Etsub on Unsplash
Skin
The signs and symptoms of albinism can vary in severity but are generally pretty uniform across all four types 3. People with albinism have hypopigmentation of their skin which can vary from white to light brown in the case of some Africans with albinism 3. With exposure to sun those with albinism can develop moles, freckles, and large spots called solar lentigines 3. Those with albinism have very diminished or no ability at all to tan, resulting in frequent and severe sunburns 3. Those with albinism are at an increased risk of skin cancers 3.
Hair
In the hair, phenotypes such as white hair can be observed 3. In individuals of African or Asian descent with albinism, red, yellow, or brown hair can also be observed with albinism 3. In some individuals the hair may darken with age 3..
Eye Color & Vision
Eye color tends to be very light in those with albinism,ranging from very light blue hues to brown 3. The iris does not have enough pigment, leading to it being mostly translucent and giving it a red/pink appearance in certain lightings 3.
Vision is also impacted by albinism with nystagmus being common 3. Nystagmus is uncontrollable movement of the eyes in a fast back and forth motion 3. Another condition is strabismus which is the inability for the eyes to look in the same direction at the same time, making them appear cross-eyed 3. Vision is also reduced as the retina is not as developed 3. The optic nerves are also incorrectly routed leading to further diminished vision and poor depth perception 3.