OCULARCUTANEOUS

ALBINISM

KELOMPOK 7
 Definisi

Kelainan pigmentasi (hipopigmentasi) pada kulit, rambut, dan

mata yang disebabkan mutasi gen yang diturunkan secara
autosomal resesif

Tipe OCA
OCA OCA OCA OCA
1 2 3 4
11q14. 15q11.
5p
● ●
●
9p23 ●
3 2-q12 ●
TYRP1 ●
Struktur protein tirosinase
OCA 1 Mutasi gen TYR

Null Leaky

Nonsense & Frameshift Missense & Point Mutations

Aktivitas TYR (-) Aktivitas TYR <<

Sintesis melanin di Sintesis melanin sedikit di

kulit, mata, rambut (-) kulit, mata, rambut saat lahir

Melanin bertambah seiring usia

Rambut & Kulit putih,
mata merah  sampai tua
Rambut kuning, kulit kuning dan
sering dijumpai nevi, freckles,
OCA1A lentigenes

OCA1B
OCA1A

OCA1B
OCA 2 Mutasi gen Protein P

2.7 kb Splice site

122.5 kb deletion allele
deletion mutation
allele 10-20 ekson gen P hilang intron 17

PH melanosom abnormal Sintesis eumelanin <<

Protein P : protein transmembrane  atur PH

melanosom. Kondisi asam dimediasi oleh protein P yg
mendukung biogenesis normal melanosom, termasuk
sasaran yang benar dari protein melanosom lain seperti
tirosinase.
OCA1B
OCA 3
Mutasi gen TRP1 (Tyrosinase-Related Protein)
pada kromosom 9
Delesi 1 Pada ekson
basa pada 166
kodon serine  stop
368 kodon

Nonfungsional Panjang rantai

TRP1 yang abnormal

Kulit dan rambut

coklat kemerahan
OCA 4
Mutation in the Chromosomal position
membrane-associated 5p13.3
transporter protein MATP is expressed in
gene ( MATP ) also melanosomal cell lines
known as gene
SLC45A2

MATP protein plays an important role in

pigmentation and probably functions as a
membrane transporter in melanosomes

Characterized by hipopigmentation of the

skin and hair plus ocular findings ->
similiar to OCA 2