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PAPER

DEPARTEMEN ILMU KESEHATAN MATA

FAKULTAS KEDOKTERAN USU/ RSUP H. ADAM MALIK

MEDAN

NAMA : FITRI RAHMARIANI

NIM : 090100234

BAB 1

PENDAHULUAN

1.1. Pendahuluan

Blepharophimosis syndrome atau blepharophimosis-ptosis-epicanthus

inversus syndrome (BPES) meu!a"a# $uatu "e%aa# 'e#et&" (a#' )aa#' te)a*&+

umum#(a *&tuu#"a# $e,aa aut-$-ma% *-ma# *e#'a# "um!u%a# ta#*a "%&$

eu!a %e!a-!&m-$&$+ te%e,a#tu$+ e!&,a#tu$ e$u$+ *a# !t-$&$ (a#' eat.1+2

Ke%aa# & me#(ea"a# "e%-!a" mata t&*a" *a!at memu"a $e,aa $em!u#a

$e''a !e#'%&ata# me#)a*& te'a#''u.3

Se,aa '%-a%+ !ea%e#$& PES *&!e"&a"a# $e"&ta 1:0.000 *e#'a#

"a$u$ PES *&)um!a& !a*a *&&*u *e#'a# muta$& FO5L2. Sea'&a# e$a "a$u$

te*ete"$& $ee%um u$&a 6 tau# *e#'a# $&*e#$& !eem!ua# *a# %a"&7%a"& (a#'

me#*e&ta PES a*a%a ma$'7ma$' 4870 *a# 3074. 2

PES *a!at *&a'& me#)a*& *ua t&!e. PES t&!e I te*&& *a& em!at

ma#&e$ta$& "%&$ utama eu!a %e!a-!&m-$&$+ !t-$&$+ e!&,a#tu$ e$u$+ *a#

te%e,a#tu$+ $eta *&tama *e#'a# "e'a'a%a# -a&um !ematu atau premature

ovarian failure (POF) $e*a#'"a# PES t&!e II a#(a te*&& *a& em!at ma#&e$ta$&

"%&$ ta#!a *&$eta& "e'a'a%a# -a&um !ematu.3+4

Tata%a"$a#a !eme*aa# !a*a PES umum#(a me%&!ut& t*a"a# medial

canthoplasty u#tu" mem!ea&"& %e!a-!&m-$&$+ e!&,a#tu$ e$u$+ *a#

te%e,a#tu$. Se%a#)ut#(a+ *&%a"u"a# t*a"a# u#tu" me#'"-e"$& !t-$&$ (a#'

umum#(a meme%u"a# !-$e*u $u$!e#$& -#ta%&$.4

Ma"a%a & a"a# memaa$ %e& %a#)ut me#'e#a& blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)+ et&-%-'&+ !e#e'a"a# *&a'#-$&$+ *a#

!e#ata%a"$a#aa##(a.

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BAB 2

TINJAUAN PUSTAKA

2.1. Anatomi dan Fisioloi Kelo!a" #ata

Ke%-!a" mata atau !a%!ea me#!u#(a& u#'$& me%*u#'& -%a mata+ $eta

me#'e%ua"a# $e"e$& "e%e#)a#(a (a#' me#e#tu" &%m a& mata *& *e!a# "-#ea.

Pa%!ea meu!a"a# a%at me#utu! mata (a#' e'u#a u#tu" me%*u#'& -%a mata

tea*a! tauma+ tauma $a+ *a# !e#'e'a# -%a mata.

Pa%!ea ;"e%-!a" mata< $u!e&- *a# e&- a*a%a m-*&&"a$& %&!ata# "u%&t

(a#' *a!at me#utu! *a# me%*u#'& -%a mata a'&a# a#te&-. Pa%!ea $u!e&-

ea"& !a*a a%&$ mata !a%!ea e&- me#(atu *e#'a# !&!&.8

=ama 2.1. Stu"tu %ua mata8

Ke%-!a" mata te*&& *a& %&ma &*a#' )a'a# (a#' utama. Da& $u!e&$&a%

"e *a%am te*a!at %a!&$a# "u%&t+ -t-t a#'"a ;-&,u%a&$ -,u%&

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%&!ata# "e%-!a" (eyelid crease) *a# %&!ata# "e%-!a" mata (eyelid fold). =a&$

%&!ata# "e%-!a" mata ata$ meu!a"a# *aea !e%e"ata# a!-#eu-$&$ %eat-

"e -&,u%a&$ !eta$a% *a# "u%&t+ (a&tu *aea *& *e"at atau $ete#ta#' te!&

$u!e&- ta$u$. L&!ata# "e%-!a" mata ata$ te*&& *a& "u%&t !e$e!ta% (a#'

%-#''a *am )a'a# $u"uta# *&ata$ !etemua# a!-#eu-$&$ %eat- *a#

$e!tum.1+8

2. Mu$,u%u$ O&,u%a&$ O,u%&

Fu#'$& mu$,u%u$ -&,u%a&$ -,u%& a*a%a me#utu! !a%!ea *a#

me#'eut"a# *a& $e,aa et&"a%. Seat7$eat -t-t#(a me#'e%&%'& &$$ua

!a%!eae $e,aa "-#$e#t&$ *a# me#(ea *a%am )aa" !e#*e" me#'e%&%'&

te!& -&ta. Sea'&a# $eat e)a%a# "e !&!& *a# *a&. K-#ta"$& $eaut7

$eaut -t-t & mem!e$em!&t &$$ua !a%!ea *a# mema#tu a%&a# a&

mata. a'&a# -t-t (a#' te*a!at *& *a%am !a%!ea *&"e#a% $ea'a& a'&a#

!ata$a% a'&a# *& ata$ $e!tum -&ta%e a*a%a a'&a# !a$e!ta%. Se'me#

*&%ua !a%!ea *&$eut a'&a# -&ta. a'&a# !a%!ea ;!eta$a% *a#

!e$e!ta%< euu#'a# *e#'a# 'ea"a# -%u#te ;e"e*&!

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=ama 2.2. Ot-t -&,u%a&$ *a# -t-t7-t-t $e"&ta. A. M. -#ta%&$ . M. -u'at-

$u!e,&%&& . M. P-,eu$ D. M. O&,u%a&$ ;O&ta

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=ama 2.4. A#at-m& !a%!ea $u!e&- *a# e&- ;!-t-#'a# $a'&ta%a me%e#'"u#' "e

a>a.

o =%a#*u%a Ce&$ B Stu"tu & meu!a"a# m-*&&"a$& "e%e#)a $ea$ea

"e,&%+ (a#' emuaa "e *a%am -%&"e% amut !a*a *a$a u%u mata.

o =%a#*u%a M-%% B Stu"tu & meu!a"a# m-*&&"a$& "e%e#)a "e'at

(a#' emuaa meme#tu" $atu a&$a# *e"at u%u mata.

2. Te!&a# P-$te&-

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Te!&a# !a%!ea !-$te&- e"-#ta" *e#'a# -%a mata+ *a# $e!a#)a#' te!&a#

& te*a!at muaa7muaa "e,&% "e%e#)a $ea$ea (a#' te%a *&m-*&&"a$&

;'%a#*u%a Me&-m+ atau ta$a%a me%a%u&

"a#a%&"u%u$#(a "e $a,,u$ %a,&ma%&$.

F&$$ua !a%!eae a*a%a ua#' ee#tu" e%&!$ *& a#taa "e*ua !a%!ea

(a#' teu"a. N-ma%#(a+ !a#)a#' &$$ua !a%!ea *e>a$a a*a%a 2730 mm *a#%ea#(a a*a%a 6711 mm. Se%a &tu+ !a%!ea $u!e&- *a!at memu"a $am!a&

)aa" 1 mm a"&at "e)a -t-t %eat-. F&$$ua & ea"& *& "a#tu$ me*&a%&$ *a#

%atea%&$ *e#'a# $u*ut $e"&ta 80-. Ka#tu$ %atea%&$ "&a7"&a 0+ ,m *a& te!& %atea%

-&ta *a# meme#tu" $u*ut ta)am. Ka#tu$ me*&a%&$ %e& e%&!$ *a&!a*a "a#tu$

%atea%&$ *a# me#'e%&%'& %a,u$ %a,&ma%&$. Pa*a -a#' A$&a+ umum#(a te*a!at

$eua %&!ata# "u%&t (a#' *&"e#a% $ea'a& e!&"a#tu$ tee#ta#' *a& u)u#' me*&a%

!a%!ea $u!e&- "e u)u#' me*&a% !a%!ea e&-+ me#utu!& "au#"u%a. Le"u"a#

!a*a !a%!ea $u!e&- *a# e&- *&$eut $u%,u$ $u!a!a%!ea *a# $u%,u$

a!a%!ea. Se%a &tu+ !a*a !-$&$& !&me+ te!& "e%-!a" mata ata$ ea*a

$ete#ta#' %&mu$ $u!e&- !a*a a#a"7a#a" *a# me#utu!& 1+72 mm *&a>a#(a

!a*a *e>a$a+ $e*a#'"a# te!& "e%-!a" mata a>a me#utu!& $ete#ta#' %&mu$

e&-.8++6+9

=ama 2.. a'&a# Mata E"$te#a%6

Se!tum -&ta%e a*a%a a$&a *& e%a"a#' a'&a# -t-t -&,u%a&$ -,u%& (a#'

te%eta" *&a#taa te!&a# -&ta *a# ta$u$ $eta eu#'$& $ea'a& $a>a a#taa

!a%!ea *a# -&ta. Se!tum -&ta%e *&temu$ -%e !emu%u *a# $aa %a"&ma%+

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!emu%u *a# $aa $u!at-"%ea+ !emu%u *a# $aa $u!a-&ta%+ $aa

tat-"%ea+ a#a$t-m-$&$ a#taa e#a a#'u%a&$ *a# e#a -!ta%m&,a+ *a# mu$,u%u$

%eat- !a%!eae $u!e&-&$. Se!tum -&ta%e $u!e&u me#(atu *e#'a# te#*-#

%eat- !a%!eae $u!e&-&$ *a# ta$u$ $u!e&- $e!tum -&ta%e e&u$ me#(atu

*e#'a# ta$u$ e&-.8

Reta"t- !a%!ea eu#'$& memu"a !a%!ea *a# *&e#tu" -%e

"-m!%e"$ mu$"u%-a$&a%+ *e#'a# "-m!-#e# -t-t a#'"a *a# !-%-$+ (a#' *&"e#a%

$ea'a& "-m!%e"$ %eat- *& !a%!ea $u!e&- *a# a$&a "a!$u%-!a%!ea *&

!a%!ea e&-. D& !a%!ea $u!e&-+ a'&a# -t-t a#'"a#(a a*a%a %eat-

!a%!ea $u!e&-&$. Ot-t & *a& a!e"$ -&ta *a# e)a%a# "e *e!a# u#tu"e,aa#' me#)a*& $eua a!-#eu-$&$ *a# a'&a# (a#' %e& *a%am (a#'

me#'a#*u#' $eat7$eat -t-t !-%-$ mu$,u%u$ Mu%%e ;ta$a%&$ $u!e&-a *aa *a& *a& *a# tem!-a%

B (a#' te$u$u# *a%am !%e"$u$ !a7 *a# !a$,ata$a%. Pemu%u %&me $e'me# %atea%

!a%!ea e)a%a# "e *a%am "e%e#)a 'eta e#' !eau&"u%a *a# !a-t&$.

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Pemu%u %&me *a& $&$& me*&a% !a%!ea me#'a%&"a# &$(a "e *a%am "e%e#)at

'eta e#' $uma#*&u%a.8

=ama 2.8. Pemu%u *aa *a# $aa $tu"tu e"$ta-"u%a8

2.2. Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES)

2.2.1. De$inisi

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) meu!a"a#

$uatu "e%aa# (a#' *&tuu#"a# $e,aa aut-$-ma% *-ma# *e#'a# "um!u%a# ta#*a

"%&$ eu!a %e!a-!&m-$&$+ te%e,a#tu$+ e!&,a#tu$ e$u$+ *a# !t-$&$ (a#'

eat.1

2.2.2. E!idemioloi

Se,aa '%-a%+ !ea%e#$& PES *&!e"&a"a# $e"&ta 1:0.000 *e#'a#

"a$u$ PES *&)um!a& !a*a *&&*u *e#'a# muta$& FO5L2. Sea'&a# e$a "a$u$

te*ete"$& $ee%um u$&a 6 tau# *e#'a# $&*e#$& !eem!ua# *a# %a"&7%a"& (a#'

me#*e&ta PES a*a%a ma$'7ma$' 4870 *a# 3074. 2

Pa*a PES+ !t-$&$ te)a*& !a*a $emua "a$u$ *e#'a# 6 !t-$&$ eat *a#

1 !t-$&$ $e*a#'. Pa*a !e#e%&t&a# %a+ !t-$&$ eat *&)um!a& !a*a 8070 "a$u$

*a# !t-$&$ $e*a#' !a*a 30740 "a$u$. I#$&*e#$& $ta&$mu$ !a*a PES *&)um!a&

!a*a 40. I#$&*e#$& 'a#''ua# ea"$& *a!at me#,a!a& 9 *e#'a# e#ta#'

umum#(a e"&$a 3470 *a# t&!e 'a#''ua# ea"$& (a#' !a%' $e' a*a%a

&!e-!&a *a# a$t&'mat&$ma. I#$&*e#$& am%&-!&a a*a%a $e"&ta 39741+ teta!&

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*a!at me#,a!a& 80. T''(a $&*e#$& am%&-!&a *a!at euu#'a# "ua#'#(a

"e$a*aa# ma$(aa"at te#ta#' !e#t'#(a !eme&"$aa# *&.2

2.2.%. Klasi$i"asi


ma#&e$ta$& "%&$ utama eu!a %e!a-!&m-$&$+ !t-$&$+ e!&,a#tu$ e$u$+ *a#

te%e,a#tu$+ $eta *&tama *e#'a# "e'a'a%a# -a&um !ematu atau premature

ovarian failure (POF). PES t&!e II a#(a te*&& *a& em!at ma#&e$ta$& "%&$

ta#!a *&$eta& "e'a'a%a# -a&um !ematu.3+4

2.2.&. Etioloi

Pe#(a"&t & meu!a"a# $uatu "e%aa# (a#' *&tuu#"a# $e,aa aut-$-ma%

*-ma#+ at(a *e#'a# a*a#(a $atu $a%a# 'e# (a#' eua atau emuta$&

*a%am $e% ,u"u! u#tu" me#(ea"a# "e%aa#.3

Muta$& 'e# FO5L2 ;"-m-$-m 323< me#(ea"a# PES t&!e I *a# II.

=e# FO5L2 meme&"a# $tu"$& !emuata# !-te (a#' a"t& *a%am "e%-!a"

mata *a# -a&um. P-te FO5L2 "emu#'"a# e!ea# *a%am !e"ema#'a#

-t-t7-t-t !a%!ea. See%um %a& *a# !a*a $aat *e>a$a+ !-te mee'u%a$&

!etumua# *a# !e"ema#'a# $e%7$e% -a&um tete#tu ;$e% 'a#u%-$a -a&uma$a #-ma%+ )aa" & a*a%a $e"&ta 2730 mm. 4+10+11+12

2. Pt-$&$

Pt-$&$ *&%a& teutama e*a$a"a# a#am#e$&$ *a# !eme&"$aa# &$&".

e*a$a"a# a#am#e$&$+ umum#(a !t-$&$ "-#'e#&ta% *a# !t-$&$ (a#' *&*a!at *a!at*&e*a"a#. Sea'&a# e$a !a$&e# me#u#)u""a# "%&$ eu!a )atu#(a "e%-!a"

mata+ me#u#)u""a# !e#am!&%a# $e!et& me#'a#tu" atau "e%e%aa#. Pa$&e# *a!at

me#'e%u"a# !a#*a#'a# mata#(a "au+ !e#'"ata# !-*u"$& a& mata+ !e#uu#a#

%a!a#'a# !a#*a#'. Pa$&e# *a!at )u'a me#'e%u"a# "e$u%&ta# *a%am a"t&&ta$ $ea&7

a&+ $e!et& "e$u%&ta# *a%am me#'e#*aa&+ mema,a+ #a&" ta#''a+ $e''a

mem!e#'au& "ua%&ta$ &*u!#(a. Se%a &tu+ !a$&e# *a!at )u'a me#'e%u"a# #(e&

"e!a%a *e!a# ;-#ta%< a"&at !e#''u#aa# e%e&a# -t-t7-t-t *a& u#tu"

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me#'a#'"at "e%-!a" mata $e,aa t&*a" %a#'$u#' *e#'a# ,aa me#'a#'"at a%&$

mata.14

Pt-$&$ "-#'e#&ta% (a#' t&*a" te*&a'#-$&$ *a!at me#(ea"a# am%&-!&a.

Pa*a $!e"$&+ !a$&e#+ teutama a#a"7a#a"+ *a!at me#u#)u""a# tam!&%a# "e!a%a

*&a#'"at *a# !-$&$& *a'u tea#'"at. Se%a &tu+ !a$&e# mu#'" te%&at me#'a#'"at

"e%-!a" mata#(a *e#'a# )a& u#tu" me#a&""a# a%&$#(a a'a *a!at me%&at.14

U#tu" me#&%a& *ea)at !t-$&$+ !e#&%a&a# "e%-!a" mata *&!e%u"a#.

Peme&"$aa# &$&" %e!a-!t-$&$ te$eut me%&!ut& !e#&%a&a# "%&$+ (a&tu margin-

refle" distance ;MRDa !a*a a"$&$ !u!&%. Pe#&%a&a# & *&%a"u"a# *e#'a# memta !a$&e#

me%a"u"a# &"$a$& !a#*a#'a# !a*a -)e" )au !a*a !-$&$& !a#*a#'a#

!&me. N&%a& #-ma%#(a a*a%a a#taa 9712 mm atau $e"&ta 710 mm !a*a

%a"&7%a"& *a# 6712 mm !a*a !eem!ua#. Pt-$&$ *a!at *&e*a"a# me#)a*&

*ea)at 'a# ;)&"a ata$ "e%-!a" mata ata$ me#utu!& "-#ea 2 mma. @um%a MRD1 *a# MRD2 $ama *e#'a# t''& et&"a% &$$ua

te!a%!ea. N&%a& #-ma% MRD1a*a%a a#taa 47 mm.1+14

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=ama 2.12. Pe#&%a&a##arginal refle" distance (#%&$)1

=ama 2.13.#arginal refle" distance! ;a< N-ma% ;< !t-$&$ 'a# ;,< !t-$&$

$e*a#' ;*< !t-$&$ eat10

,. Fu#'$& %eat- $ea&"#(a *&ea%ua$& !a*a $emua "a$u$. Fu#'$& %eat- &

*a!at *&!e"&a"a# *e#'a# me#&%a& upper eyelid e"cursion ;ULE

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=ama 2.14. Pe#&%a&a# u#'$& %eat-10

*. P-$&$& 'a&$ %&!ata# !a%!ea $u!e&- (upper eyelid crease) a*a%a )aa"

a#taa %&!ata# "e%-!a" mata ata$ (upper eyelid crease) *a# te!& "e%-!a"

mata. Ha% & *&"ae#a"a# $e$& $eaut7$eaut -t-t %eat- "e "u%&t

mem!e#'au& !eme#tu"a# %&!ata# "e%-!a" mata ata$. L&!ata# "e%-!a"

(a#' t''&+ 'a#*a+ atau a$&met&$ *a!at me#'*&"a$&"a# !-$&$& a#-ma%

*a& a!-#eu-$&$ %eat-. Ka$ !a*a Kau"a$&a+ %&!ata# "e%-!a" mata ata$

umum#(a 679 mm !a*a %a"&7%a"& *a# 9711 mm !a*a !eem!ua#. L&!ata#

&a$a#(a me#'"at !a*a !t-$&$ -%u$& *a# $e' *a#'"at atau t&*a" a*a

!a*a !a$&e# *e#'a# !t-$&$ "-#'e#&ta%. L&!ata# "e%-!a" -a#' A$&a umum#(a

%e& e#*a atau t&*a" )e%a$+ *e#'a# atau ta#!a !t-$&$. Se,aa umum+

#-ma%#(a a*a%a a#taa 76 mm !a*a %a"&7%a"& *a# 9710 mm !a*a!eem!ua#.1+14

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=ama 2.1. P-$&$& upper lid crease1

e. Kemu*&a# #&%a& a*a t&*a"#(a %a'-!ta%mu$ *a# )&"a *&)um!a& ma"a

te#tu"a# *ea)at#(a.1

Peme&"a$aa# &$&" %a )u'a tema$u" me#&%a& !-$&$& "e!a%a+ e%ea$& *a'u+

!-$&$& a%&$+ *a# 'ea"a# a%&$ $aat !a#*a#'a# mata "e ata$ (upgae). =amaa# &

me#u#)u""a# !e#'au !t-$&$ tea*a! u#'$& !e#'%&ata#. Kua#t&ta$ *a# "ua%&ta$

a& mata *&%a& !a*a a>a% !eme&"$aa#. La'-!ta%m-$ *a# "ua#t&ta$ atau "ua%&ta$

a& mata (a#' uu" *a!at me#)a*& a"t- !e*&$!-$&$& a'& !a$&e# u#tu" me#*e&ta

"-m!%&"a$& !t-$&$ $e!et& mata "e' (dryness) *a# e"posure 'eratitis. Peme&"$a)u'a !e%u me#&%a& a*a t&*a"#(a #-ma% Bell phenomenon *a# #&%a& a!a"a $e#$a$&

"-#ea #-ma%+ a"t-7a"t- & *a!at meme#'au& e#,a#a !e#'-ata#.1

P-$&$& "e%-!a" mata (a#' !t-$&$ !a*a !-$&$& !a#*a#'a# mata "e aa a>a

mema#tu meme*a"a# !e#(ea "-#'e#&ta% *a#m *&*a!at. Pa*a !t-$&$

"-#'e#&ta%+ "e%-!a" mata !a*a $aat !a#*a#'a# mata "e aa a>a %e& t''&

*a&!a*a "e%-!a" mata #-ma% a"&at *a& "ete%amata# "e%-!a" mata (eyelid lag).

Ke%-!a" mata !t-$&$ *a!at )u'a ema#&e$ta$& %a'-!ta%m-$.1

Se%a &tu+ !eme&"$aa# u#'$& !e#'%&ata# *a# 'a#''ua# ea"$& )u'a

*&!e%u"a# u#tu" me#'&*e#t&&"a$& *a# me#'ata$& a#a" *e#'a# am%(-!&a a"&at

a#&$-met-!&a+ a$t&'mat&$ma eat+ $ta&$mu$+ atau -"%u$& !u!&%. Am%(-!&a te)a*&

!a*a $e"&ta 20 !a$&e# *e#'a# !t-$&$ "-#'e#&ta%.1

Pa*a !t-$&$ "-#'e#&ta% m&-'e#&" MRD1me#u#)u""a# !t-$&$ 'a# $am!a&

eat+ %&!ata# "e%-!a" mata ata$ %e& e#*a atau t&*a" a*a !a*a !-$&$& #-ma%+

u#'$& %eat- me#uu#+ *a# eyelid lag!a*a downgae.1

3. E!&,a#tu$ I#e$u$

E!&,a#tu$ e$u$ meu!a"a# %&!ata# "u%&t $e,aa et&"a% mu%a& *a&

!a%!eae e&- *a# mema#)a#' "e a'&a# $u!e&- *a# me*&a% ''a "e a'&a#

ata$ ,a#tu$ me*&a%&$.4+10+11+12

4. Te%e,a#tu$

Te%e,a#tu$ *&*e&$&"a# $ea'a& !e#'"ata# )aa" a#taa ,a#tu$ me*&a%.

Te%e,a#tu$ !&me meu!a"a# !e#'"ata# )aa" ,a#tu$ me*&a% atau inner

17

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canthal distance ;ID< *e#'a# )aa" %atea% te,a#tu$ atau outer intercanthal

distance ;OD< *a# )aa" a#ta!u!&% atau interpupillary distance ;IPD< #-ma%.

ID *a# OD a*a%a ma$'7ma$' 18 *a# 9 mm !a*a a(& !ematu+ 20J4 *a#

89J6 mm !a*a a(& au %a&+ 28J8 *a# 66J10 mm !a*a a#a" u$&a 3 tau#+ *a#

31J *a# 111J12 !a*a a#a" u$&a 14 tau#. Pa*a PES+ !a#)a#' te#*-# ,a#tu$

me*&a% atau medial canthal tendon ;MT< me#'"at *a& 679 ,m me#)a*& 13 mm.

Se%a &tu+ )aa" #e,a#tu$ !a*a PES *a!at me#,a!a& 3739 mm. 10+11+12+18

=ama 2.18. Pe#a#*a M--%-'& Mata. A. ID (nner anthal &istance) . IPD

(nter Pupillary &istance) . OD (Outer nter anthal &istance) D. PFL

(*oriontal Palpebral Fissure +enght)12

2.2.). Dianosis Bandin

D&a'#-$&$ a#*' blepharophimosis syndrome *a!at *&%&at !a*a tae% 2.1

e&"ut.

Tae% 2.1. D&a'#-$&$ a#*'Blepharophimosis Syndrome4

Syndrome nheritance Kaa"te&$t&"

-#'e#&ta% Pt-$&$ AD Pt-$&$

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Pt-$&$ >&t ete#a%

-!ta%m-!%e'&a

AR Pt-$&$

O!ta%m-!%e'&a

M&-$&$De,ea$e* a,,-m-*at&-#

Sta&$mu$

Am%(-!&a

N--#a# S(#*-me AD Pt-$&$

S-t $tatue

Heat *ee,t$

%--* ,%--t'

*e&,&e#,&e$

Ma*e#7a%"e $(#*-me AR Pt-$&$

%e!a-!&m-$&$

=->t eta*at&-#

Neu-%-'&, *ee,t$

;te%%e,tua% *&$a&%&t(+

a$e#t !&m&t&e e%ee$at7@am!e%

$(#*-me

AR I#tem&tte#t !t-$&$

%e!a-!&m-$&$

Te%e,a#tu$

ataa,t

S-t $tatue

at&%a'e a#* $"e%eta%

a#-ma%&e$

Mu$,%e (!et-!(

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Du->&t $(#*-me AR Pt-$&$

%e!a-!&m-$&$

Latea% te%e,a#tu$

S-t $tatue

I#te%%e,tua% *&$a&%&t(

Immu#-%-'&, *e&,&e#,&e$

Sm&t7Lem%&7O!&t

$(#*-me

AR Pt-$&$

E!&,a#tu$

ataa,t

=->t a#* te%%e,tua%

*&$a&%&t(

Seee 'e#&t-ua(+

,a*&a,+ a#*

'a$t-te$ta% a#-ma%&e$

2.2.*. Penatala"sanaan

Pe#ata%a"$a#aa# *e#'a# te"#&" !eme*aa# mu#'" meme%u"a#

eea!a taa! !eme*aa#. Pem&%&a# >a"tu !e%a"$a#aa# -!ea$& *&te#tu"a#

teutama e*a$a"a# u#'$& "e%-!a" mata *a# "emu*&a# tam!&%a# "e%-!a" mata

(eyelid appearance).1 Umum#(a+ "-e"$& !eme*aa# *&tu#*a $am!a& u$&a

!a$e"-%a a'a nasal bridge ,u"u! e"ema#' $e''a %&!ata# e!&,a#tu$

me#)a*& e"ua#' *a# a'a )a'a# me#)a*& ,u"u! %ua$ u#tu" mem!emu*a

"-e"$& !eme*aa#.12

#ultiple ,-plasty atau -.-plasty meu!a"a# ,aa (a#' *&'u#a"a# u#tu"

me#'"-e"$& te%e,a#tu$ *a# e!&,a#tu$ e$u$. @&"a %&!ata# e!&,a#tu$ 'a#+

ma"a 7?7,a#t-!%a$t( *a!at *&'u#a"a# $e*a#'"a# )&"a %&!ata# e!&,a#tu$ eat+

ma"a *-u%e C7!%a$t( umum#(a *&'u#a"a#. U#tu" me#'"-e"$& te%e,a#tu$+

te"a*a#' t*a"a# *&"-ma$& *e#'a# transnasal wiring u#tu" mem!e!e#*e"

te#*-# ,a#tu$ me*&a%. K-e"$& e!&,a#tu$ *a# te%e,a#tu$ umum#(a *&%a"u"a#

!a*a u$&a 37 tau# *a# *&&"ut& "-e"$& !t-$&$ $atu tau# "emu*&a#+ teta!& !a$&e#

*e#'a# !t-$&$ eat *&e"-me#*a$&"a# u#tu" *&%a"u"a# -!ea$& $ee%um u$&a 3

20
http://www.ncbi.nlm.nih.gov/books/n/gene/slo/http://www.ncbi.nlm.nih.gov/books/n/gene/slo/http://www.ncbi.nlm.nih.gov/books/n/gene/slo/http://www.ncbi.nlm.nih.gov/books/n/gene/slo/

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tau#. K-e"$& !t-$&$ !a*a !a$&e# PES umum#(a meme%u"a# $u$!e#$& -#ta%&$

a'a ee"#(a a*e"uat. P-$e*u tamaa# mu#'" *&!e%u"a# u#tu" me#'"-e"$&

ma$a%a te"a&t $e!et& e"t-!&-# atau &!-!%a$&a &ma -&ta.1+4+10+12

e*a$a"a# Mu$ta*e+ taa!a# "-e"$& "e%aa# !a*a PES a*a%a $ea'a&

e&"ut.12

1. K-e"$& e!&,a#tu$ *a# te%e,a#tu$

2. K-e"$& !t-$&$

3. @&"a *&!e%u"a#+ ma"a %a"u"a# "-e"$& vertical s'in shortage

1. K-e"$& E!&,a#tu$ *a# Te%e,a#tu$Ma$a%a utama (a#' au$ *&!eat&"a# a*a%a a*a#(a !euaa# !-$&$& "e

aa %atea% *a& )a'a# %u#a" ,a#tu$ me*&a *&$eta& *e#'a# !ema#)a#'a# te#*-#

,a#tu$ me*&a% atau medial canthus tendon ;MT

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NIM : 090100234

Se,aa umum+ te"#&"7te"#&" -!ea$& te$eut *a!at *&)e%a$"a# $ea'a& e&"ut.

a! Spaeth/s &ouble ,-Plasty

P-$e*u & *&'u#a"a# a#(a u#tu" me#'"-e"$& e!&,a#tu$. Ta#*a C

*&uat !a*a ma$'7ma$' "e%-!a" mata *e#'a# "e*ua !u#,a"#(a

e'au#' *& ata$ MT. F%a! "emu*&a# *a&""a#+ *&ta#$!-$&$&+ *a# *&)a&t.12

=ama 2.1. Spaeth/s &ouble ,-Plasty12

b! .erwey/s -. #edial anthoplasty

O&e#ta$& $e,aa -&-#ta% !a*a ,a#tu$ me*&a% *e#'a# *a$a ta#'"a(a

!a*a !-$&$& au (a#' *&'"a# *a!at *&%&at !a*a 'ama e&"ut. Le#'a# *&uat me#a#)a#' $am!a& "e %&!ata# $u!a-&ta *a# a-&ta. I#$&$&

"u%&t *&uat *a# )a'a# $u"uta# *&e"$&$&+ "emu*&a# *&%a"u"a# !e#)a&ta#

)a'a# $u"uta# "e MT. F%a! "emu*&a# *&ata"a# *a# *&)a&t *a%am e#tu"

?. Met-*e & *a!at me#'"-e"$& e!&,a#tu$ *a# te%e,a#tu$.12

Keu'&a# met-*e & a*a%a )a'a# !aut ee#tu" ? (a#' me#-#)-% (a#'

t&*a" $e$ua& *e#'a#+anger/s line *a# a#(a a'&a# u)u#' te*e!a# ? tam!a"

%e& a&".

12

=ama 2.16. ?e>e($ 7? me*&a% ,a#t-!%a$t(12

c! %oveda 0echni1ue

I#$&$& *&%a"u"a# !aa%e% tea*a! !u#,a" %&!ata# e!&,a#tu$ *e#'a# )aa" "&a7

"&a 78 mm "e aa me*&a%. Pa*a !ete#'aa# %e#'"u#'a#+ $&$& e#tu" *&%a"u"a#. Le#'a# *&!e!a#)a#' $am!a& )aa" 7 mm "e aa &*u#'.

De#'a# *em&"&a#+ tee#tu" t&t&" !etemua# (a#' e)aa" "&a7"&a 172 mm

"e aa me*&a% *a& $u*ut ,a#tu$. Dua %a! $e'&t&'a *&e"$&$& *a# *&tutu!

*e#'a# )a&ta# ee#tu" .12

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=ama 2.19.%oveda techni1ue12

d! #ustarde/s &ouble ,-plasty (Four-flap2%unning #an2Flying #an 0echni1ue)

S&$& !e#em!ata# ,a#tu$ au (a#' *&'"a# *&ta#*a&+ $e%a#)ut#(a uat ID

$ete#'a *a& IPD. De#'a# me#''ama "u%&t "e aa &*u#' *a#

me#'aa&"a# %&!ata#+ t&t&" "e*ua *&uat *a# "e*ua t&t&" te$eut *&uu#'"a#.

Da& a'&a# te#'a 'a&$ &+ 'ama *ua 'a&$ *e#'a# $u*ut 80 -+ !a#)a#'

"e*ua 'a&$ au$ $ama *e#'a# !a#)a#' 'a&$ %e& !e#*e" 2 mm *a& !a#)a#'

'a&$ a$a%. Da& 'a&$ &+ uat 'a&$ %a'& "e aa &*u#' *e#'a# !a#)a#' (a#'

$ama *a# *&uat *e#'a# $u*ut 4-. Se%a#)ut#(a+ uat 'a&$ mema#)a#' %a'&

"e*ua te!& !a%!ea. I#$&$& *&uat+ %a! *&u"a *a# *&eta"$& a'a MT

te%&at. L-"a$& ,a#tu$ au *&ea$"a# *a& $emua )a'a# $am!a& "e

!e&-$teum *e#'a# *&$e"$& tum!u%. MT "emu*&a# *&a'& *ua *a# *&%a"u"a#

!e#)a&ta# *a& te#'a !-t-#'a# te$eut "e !e&-$teum. F%a! "emu*&a#

*&ta#$!-$&$& *a# *&ata"a# $e''a %u"a tetutu! $em!u#a+ $e%a#)ut#(a

*&%a"u"a# !e#)a&ta#.12

Pet&ma#'"a# )e#&$ e#a#' (a#' *&'u#a"a# u#tu" me#)a&t aea "e,&% u#tu"

me#'ua#'& te)a*(a !eme#tu"a# )a'a# !aut.12

=ama 2.20.#ustarde/s &ouble ,-plasty12

e! 3ohn/s -4 Plasty

I#$&$& *&uat *e#'a# "-#&'ua$& e#tu" *e#'a# %ea $e"&ta mm.

U"ua# *a!at *&m-*&&"a$& u#tu" me#'ua#'& e"$&$&+ te'a#tu#' !a*a "a$u$

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NIM : 090100234

(a#' *&a*a!&. $ea&"#(a *&tem!at"a# $e"&ta mm "e aa me*&a% *a&

,a#tu$ me*&a%. Ku%&t *a# -t-t *&e"$&$&. #0 canthoplasty atau transnasal

wiring*a!at *&"e)a"a# e$amaa#.12

Keu#tu#'a# !-$e*u & a*a%a )a'a# !aut (a#' tee#tu" m&ma% *a#

$e$ua& *e#'a#+anger/s line!12

=ama 2.21.3ohn/s -4 plasty12

. Five Flap 0echni1ue;K-ma$&&ouble 5,6*a# 5.-6 0echni1uea

a%&$. Pu$at $&$& a*a%a $e"&ta 9710 mm *&ata$ u%u mata !a*a !eem!ua# *e>a$a.

Pa*a %a"&7%a"& *e>a$a+ %&!ata# "e%-!a" &a$a#(a *&uat 172 mm %e& e#*a.1

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I#tee#$& !eme*aa# *& mu#'" *&*&"a$&"a# !a*a a(& *e#'a#

am%&-!&a. K-e"$& !t-$&$ !a*a a#a"7a#a" *a!at *&tu#*a $am!a& u$&a 37 tau#

u#tu" mema$&%&ta$& !e#&%a&a# !e-!ea$& *a# !a$,a-!ea$&. Pa*a !e%a"$a#aa##(a+

mu#'" *&)um!a& "e$u%&ta# *a%am me#*a!at"a# a$,&a %ata (a#' ,u"u! !a*a a#a"

u$&a "ua#' *a& 3 tau#+ teta!& aa# & *a!at meme&"a# a$&% (a#' a&" !a*a

"e%-m!-" a#a" &.1

Se,aa $!e$&&"+ !a*a $u$!e#$& -#ta%&$+ %-"a$& $&$& *a# !-%a aa# (a#'

*&&m!%a#ta$& *&te#tu"a# -%e "-#tu a%&$. Sling ee#tu" !e#ta'-#a% *&'u#a"a#

!a*a !a$&e# *e#'a# e%ea$& a%&$ (a#' *&u$/meata. I#$&$& %atea% *a# me*&a% *&uat

!a*a ata$ $u!e&- a%&$+ te!at !a*a a'&a# %ua %&mu$ "-#ea me*&a% *a# %atea%.I#$&$& $e#ta% !a*a *a& *&tem!at"a# $e"&ta 10 mm *&ata$ a%&$ *& a#taa "e*ua $&$&

te$eut. Sling ee#tu" $e'&t&'a %e& &*ea% !a*a *&&*u *e#'a# e%ea$& a%&$

$e'me#ta% *e#'a# me#''u#a"a# $&$& tu#''a% *& ata$ a%&$ (a#' me#u#)u""a#

'ea"a# ma"$&ma%.1

I#$&$& a%&$ *&uat me%a%u& "u%&t *a# )a'a# $u"uta# *e#'a# me#am!&%"a#

-t-t -#ta%&$. I#$&$& %&!ata# *&%a"u"a# $am!a& ta$u$ te%&at. Fa$,&a %ata au$

*&am&% !a*a !a$&e# (a#' a"a# *&%a"u"a# autologous grafting. I#$&$& 3 ,m *&uat

!a*a !aa a'&a# a>a+ te!at *& ata$ ,-#*&%u$ %atea% emu. Fa$,&a %ata e>a#a

!ut& *a# e"&%at a"a# tam!a" *& a>a %ema" $u"uta#. D&$e"$& tum!u% *&%a"u"a#

!a*a !emu"aa# a#te&- a$,&a+ "emu*&a# "e aa %atea% tu#'"a& a>a $e"&ta 17

20 ,m. P-t-#'a# a$,&a *e#'a# %ea 876 mm *a# !a#)a#' 1720 mm *&am&%

*e#'a# me#''u#a"a# fascial stripper *a# cutter. Se%a#)ut#(a+ a$,&a *&e$&"a#

*a& %ema" $u"uta# (a#' me%e"at *a# *&a'& me#)a*& !-t-#'a# *e#'a# %ea 273

mm.1

aa# (a#' *&ta#am *&)a&t "e !emu"aa# a#te&- ata$ *a& !ete#'aa#ta$u$ *e#'a# eea!a e#a#' !-%(e$te 870 "etea%a# !a$&a%. K-#tu "e%-!a"

mata *&$e$ua&"a# *e#'a# me#'ua %ea *aee !e%e"ata# &. @aum a$,&a

*&'u#a"a# u#tu" me%e>at"a# t&a! u)u#' sling+ !etama me%a%u& $&$& a%&$ !e&e

*a# "emu*&a# "e $&$& $e#ta%. Im!%a# *&%e>at"a# %e& *a%am "e $e!tum -&ta *a#

!emu"aa# !e&-$teum *a& &ma -&ta $u!e&-. L&!ata# "e%-!a" mata *&e#tu"

"ema%& *e#'a# me#)a&t u)u#' -t-t -&,u%a&$ !eta$a% "e a!-#eu-$&$ *e#'a#

e#a#' !-%('%a,t 70 *a# $&$& "e%-!a" *&tutu!+ $ee%um#(a $e$ua&"a# t''&

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"e%-!a" mata. U)u#' "e*uasling *&$e$ua&"a# $e''a t''& *a# "-#tu "e%-!a"

$e$ua&. Se%a#)ut#(a+ "e*ua u)u#' sling & *&$atu"a# *e#'a# )a&ta# !ema#e#

;a$,&a< atau *e#'a# $&%&"-# $ee%um *&ta#am *& a>a )a'a# $u"uta# *a&.

I#$&$& a%&$ *a# tu#'"a& a>a *&tutu!.1

=ama 2.24. Su$!e#$& F-#ta%&$. ;a< *aea $&$& *&ta#*a& ;< mema$a#' !-t-#'a#

a$,&a %ata ;,< me#'e#,a#'"a# *a# me#'&"at !-t-#'a# te$eut.10

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=ama 2.2. La#'"a Su$!e#$& F-#ta%&$1

3. K-e"$& E"t-!&-##edial canthope"y+ *e#'a# me#em!at"a# "e%-!a" mata *a%am "ea*aa#

mee'a#' a"a# me#'ua#'& e"t-!&-# $e*a#' !a*a "e%-!a" mata a>a. Re$&*ua%

e,t-!&-# $ea&"#(a *&"-e"$& $ete%a 12716 u%a#. Kae#a -t-t -&,u%a&$ *a#

$e!tum -&ta !e#*e" $e,aa et&"a%+ ma"a au$ *&ea$"a# *a& te!& -&ta. Dee"

!a*a "e%-!a" *a!at *&tutu!& *e#'a# graft (a#' tea% *a# %e& %ea u#tu"

me#'"-m!e#$a$& "euta#.12

BAB %

KESI#PULAN

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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) meu!a"a#

$uatu "e%aa# (a#' *&tuu#"a# $e,aa aut-$-ma% *-ma# *e#'a# "um!u%a# ta#*a

"%&$ eu!a %e!a-!&m-$&$+ te%e,a#tu$+ e!&,a#tu$ e$u$+ *a# !t-$&$ (a#'

eat.1


ma#&e$ta$& "%&$ utama eu!a %ea-&m-$&$+ !t-$&$+ e!&"a#tu$ e$u$+ *a#

te%e"a#tu$+ $eta *&tama *e#'a# "e'a'a%a# -a&um !ematu atau premature

ovarian failure (POF). PES t&!e II a#(a te*&& *a& em!at ma#&e$ta$& "%&$

ta#!a *&$eta& "e'a'a%a# -a&um !ematu.3+4

Muta$& 'e# FO5L2 ;"-m-$-m 323< me#(ea"a# PES t&!e I *a# II.

=e# FO5L2 meme&"a# $tu"$& !emuata# !-te (a#' a"t& *a%am "e%-!a"

mata *a# -a&um. Pa*a PES+ e"$!e$& FO5L2 & teamat $e''a

me#''a#''u !-$e$ !e"ema#'a# "e%-!a" mata etu$ *a# $e%7$e% 'a#u%-$a

*e>a$a.3+9

D&a'#-$&$ PES teutama e*a$a"a# temua# "%&$ (a#' *&)um!a&.

Ma#&e$ta$& "%&$ (a#' "a$ !a*a PES eu!a %e!a-!&m-$&$+ te%e,a#tu$+

e!&,a#tu$ e$u$+ *a# !t-$&$ eat. 1+3+4+10

Pe#ata%a"$a#aa# PES *e#'a# te"#&" !eme*aa# meme%u"a# eea!a

taa! !eme*aa#. #ultiple ,-plasty atau -.-plasty meu!a"a# ,aa (a#'

*&'u#a"a# u#tu" me#'"-e"$& te%e,a#tu$ *a# e!&,a#tu$ e$u$. U#tu"

me#'"-e"$& te%e,a#tu$+ te"a*a#' t*a"a# *&"-ma$& *e#'a# transnasal

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PAPER



MEDAN


NIM : 090100234

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La,&ma% S($tem. :;$$-:;$: Basic and linical Science ourse (BS).

Ame&,a# A,a*em( - O!ta%m-%-'( ;AAO%a+ .+ a*a#'e+ .+ Da*a+ R.+ et a%%. 2013. %&,a%+ Ra*&-%-'&,+ a#*

=e#et&, Featue$ %e!a-!&m-$&$+ Pt-$&$+ a#* E!&,a#tu$ I#e$u$

S(#*-me te I#*&a# P-!u%at&-#.nvestigative Ophthalmology and .isual

Science! 29672990.

3. =e#et&,$ H-me Reee#,e!2014. %e!a-!&m-$&$+ !t-$&$+ a#* e!&,a#tu$

e$u$ $(#*-me. Aa&%a%e at:tt!://'.#%m.#&.'-/,-#*&t&-#/%e!a-!&m-$&$7!t-$&$7a#*7e!&,a#tu$7

e$u$7$(#*-me. ;A,,e$$e* 18 O,t-e 2014

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