By

Vicky
Octaviani
03011297

DEFINITION
Hypopigmentation
genetic disorder caused
by
a lack or absence of
melanin
pigment in the skin, eyes,
and hair

ETIOLOGY
The main cause of albinism is a
mutation in one of several genes

Each of these genes

provide the chemical code
instructions for making one
of several proteins
involved in the
production of melanin

 Absence of tyrosinase enzyme

Result of the mutation no
melanin production at all or a
significant decline in the amount
of melanin
Melanin is produced by
melanocytes
(skin, hair and eyes)

Most of albinism cases are

inherited
by recessive autosomal

EPIDEMIOLOGY

1 of 17.000
is an albino

YMPTOMATOLOGY
Oculocutaneous
albinism
Loss of pigment in
the eyes, skin and
hair
White hair, white
skin, and pink
eyes

SYMPTOMATOLOGY
Ocular albinism
vision problems
skin, hair and eye
color are generally in
the normal range
Occurs in male

SYMPTOMATOLOGY
Impaired vision
Nystagmus
Strabismus
Lazy eye
photophobia
refractive error
(myopia, hypermetropia, astigmatism)

DIAGNOSIS
Physical examination
Observe total absence
of pigmentation
Eye examination
(function)
Compare the
pigmentation other
family members

ATMENT

Wear prescription lenses

Surgery on optical muscles to
minimize nystagmus
Protection against the sun
(anti UV sunglasses, sunblock)