Albinism is a genetic issue
and the genetic issue is the fact that
you’re not able to properly produce melanin.
So therefore, you'll have an
extremely fair complected,
to the point where the patient
is almost powder or white-like.
Typically, the ocular and
skin disease occurs together
in an autosomal
There will be different types of
albinism that we’ll take a look at.
And in these patients,
keep in mind that they
are fair complected
to the point where they do not
have proper production of melanin.
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.
Extreme fair complexion.
If you were to take a look at the
iris, they would also be extremely --
well, it wouldn’t be pigmented.
In such patients, you need to make sure
that exposure to sun rays is limited,
if at all removed completely.
In type I,
it would behoove you to memorize that
there is a tyrosinase deficiency.
If you do not have this enzyme, then you’re
not able to properly form your melanin.
In type II, it’s a
P gene mutation,
which actually is the most
type of albinism type II.
Type III, with mutation once again in
your tyrosinase-related protein-1, TRP1.
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.
The associations here would be the
ocular abnormalities such as nystagmus
and decreased visual acuity.
So apart from the fact that the
iris isn’t properly pigmented,
there might be inappropriate
eye movement as well.
If you take a look at the
hair of our patient here,
light hair, milky white, readily
apparent upon observation.
The thing that you want to worry
about is avoidance of your sun
and by that I mean UV rays.
Therefore, the risk of cancer hopefully
will be limited or perhaps restricted.
More exposure to the UV rays, the increased
risk of skin cancer of whatever type.