Albinism (Achromasia)

00:01 Albinism.

00:03 Albinism is a genetic issue and the genetic issue is the fact that you’re not able to properly produce melanin.

00:10 So therefore, you'll have an extremely fair complected, to the point where the patient is almost powder or white-like.

00:18 Typically, the ocular and skin disease occurs together in an autosomal recessive pattern.

00:24 There will be different types of albinism that we’ll take a look at.

00:27 And in these patients, keep in mind that they are fair complected to the point where they do not have proper production of melanin.

00:35 So what does that mean to you? The subtypes of albinism: If you take a look at the patient here, we have a child whose skin is absolutely hypopigmented.

00:46 Extreme fair complexion.

00:49 If you were to take a look at the iris, they would also be extremely -- well, it wouldn’t be pigmented.

00:54 In such patients, you need to make sure that exposure to sun rays is limited, if at all removed completely.

01:03 The subtypes: In type I, it would behoove you to memorize that there is a tyrosinase deficiency.

01:11 If you do not have this enzyme, then you’re not able to properly form your melanin.

01:15 In type II, it’s a P gene mutation, which actually is the most type of albinism type II.

01:23 Type III, with mutation once again in your tyrosinase-related protein-1, TRP1.

01:30 So if I were you, I’d quickly just make sure that you understand or memorize tyrosinase as being deficient or a problem and the P gene that may be mutated as being the most common type of pathogenesis.

01:45 The associations here would be the ocular abnormalities such as nystagmus and decreased visual acuity.

01:50 So apart from the fact that the iris isn’t properly pigmented, there might be inappropriate eye movement as well.

01:57 If you take a look at the hair of our patient here, light hair, milky white, readily apparent upon observation.

02:07 The thing that you want to worry about is avoidance of your sun and by that I mean UV rays.

02:14 Therefore, the risk of cancer hopefully will be limited or perhaps restricted.

02:21 More exposure to the UV rays, the increased risk of skin cancer of whatever type.