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.