ALBINISM

STUDENT PROJECT

MEDICAL FACULTY
UDAYANA UNIVERSITY
2016

B
0
3

MEMBER
Komang Chandra Surya Dika 1402005003
Putu Diah Saraswati Rahayu 1402005026
Heni Kurniawati
1402005067
I Wayan Ardyan Sudharta
1402005084
Putra
Kadek Agus Rendy Surya
1402005103
Sentana
M Rio Ersa Ananda
1402005130
I Gusti Agung Ayu Diah
1402005147
Pradnya P
Vivid Vigar Yuleto
1402005228
Tan Beng Hong
1402005174
Izyan Nafisa Binti MohdArus 1402005177
Amylynn Rebecca Nathan
1402005182

OUTLINE
Definition
Etiology
Pathophysiology
Sign and Symptomps
Classification
Diagnosis
Treatment
Summary

Introduction
Albinism ( achromia or
achromatosis) is a congenital
disorder characterized by the
complete or partial absence of
pigment due to absence or
defect of tyrosinase

Albinism is term used to describe

inherited genetic conditions that
occur when the body is unable to
produce or distribute melanin
Associated with a number of
vision defects, such as
photophobia, nystagmus and
amblyopia

Classifie
d

Oculocutaneous albinism
(OCA) types 1, 2, 3 and 4
Ocular albinism (OA)
Chediak-Higashi Syndrome
(CHS)
Hermansky-Pudlak Syndrome
(HPS)
Griscelli Syndrome (GS).

Definition
Albinism includes a group of inherited disorders that
are characterized by little or no production of the
pigment melanin.
It is usually inherited as an autosomal recessive
condition but some forms are X-linked
The type and amount of melanin your body produces
determines the color of your skin, hair and eyes.1 A
number of different chromosomes are involved,
depending upon the type.

Most people with albinism are sensitive to sun

exposure and are at increased risk of developing sk
cancer.

Etiology
Occur when any genetic defects makes the body unable to
produce or distribute melanin
A mutation may result in no melanin production at all
or a significant decline in the amount produced.
Enzym defect also responsible for albinism
Most types of albinism are inherited when a child
receives the albinism gene from both parents.
The inheritance may occur through Autosomal recessive
inheritance or X-linked inheritance.

Patophysiology
Classification
Melanin Physiology
OCA
OA

Classification
Based on
Phenotype
Oculocutaneous
Simple Ocular

Molecular
Studies
Cutaneous
Hyperpigmentation
Range from complete
absence of melanin to
minimal reduction in skin
and hair

Ocular Phenotype
Constant include reduced
visual acuity,nystagmus and
lack of stereopsis

- Before 2009

2009 - Present

Melanin Physiology

Result from distribution of melanin pigment

Melanin came from the progressive oxidation of the

amino acid tyrosine via biosynth

Oculocutaneus
Albinism

Oculocutaneous albinism refers to a heterogeneous

group of autosomal recessive disorders in which
melanin is reduced or absent
4 types of OCA

Pathogenesis of OCA

Ocular Albinism
results from mutations in the
GPR143 gene
Most mutations alter the size or shape
of the GPR143 protein prevent the
protein from reaching melanosomes to
control their growth

melanosomes in skin cells and the

retina can grow abnormally large