7/21/2019 Am J Ophthalmol 2011

http://slidepdf.com/reader/full/am-j-ophthalmol-2011 1/2

The Parameters to Establish a New Corneal Dystrophy

GORDON K. KLINTWORTH

ECAUSE OF THE NEED FOR A WORLDWIDE STAN- dardized nomenclature for te corneal

d!"tro#ie"$ an international committee %rou&t to&eter tedi'er"e literature on te"e di"order" and recommended #referred name" for eac entit!() Eac corneal d!"tro#! need"a "#eci*c name %ecau"e all of te"e entitie" do not a+ect te "ame #art" of te cornea or a'e te "ame metod of ineritance$ #ato&ene"i"$ #ro&no"i"$ or treat- ment( Li,e man! oter &eneticall! determined di"ea"e"$ ,no-led&ea%out eac corneal d!"tro#! #a""e" trou& a continuum from clinical di"co'er!$ to a clinico#atolo&ic caracterization$ tocromo"omal ma##in&$ to &ene iden- ti*cation$ and to te detection of mutation"( A" ti" ,noled&e ad'ance"o'er time$ "ome de"i&nation" &radu- all! fall %! te a!"ide

 

and 

%etter 

term" 

are #ro#o"ed %a"ed on clinical or

clinico#atolo&ic o%"er'ation" or an im- #ro'ed under"tandin& of teir cau"e$ #ato&ene"i"$ and #ato%iolo&icfeature"(. Hoe'er$ attem#t" to #ro'ide more accurate a##ro#riate a##ellation" often are un"uc- ce""ful( After  ane/tended #eriod of  u"e$

 te name" of  "ome di"ea"e" %ecome "o

 in&rained in te literature tat te! are di0cult to

re#lace( For e/am#le$ retinitis  pigmentosa i" a #rime  e/am#le  of   a mi"nomer$  %ecau"e  in1ammation  of   te retina

2retiniti"3 i" not a feature of ti" retino#at!( Ne'ertele""$ de"#ite attem#t" to re#lace ti" de"i&nation -it te more

#reci"e name of pigmentary retinopathy$ 

te old name li'e" on( E'en corneal dystrophy i" a mi"nomer %ecau"e 

entitie"em%raced

 

under 

ti" 

um%rella 

do 

not 

ari"e from defecti'e or fault! nutrition$ a" im#lied %! te ord dystrophy deri'ed

from te Latin term dystrophia. 4articu- larl! for te la! #u%lic$ ti" i" #ro%a%l! &ood %ecau"e can&e" in nomenclature are notal-a!" ea"! to com#re- end( To rename di"ea"e" fre5uentl! a" ,noled&e ad- 'ance"

 ma! #ro'ide #reci"ion$ a"

emato#atolo&i"t" a'e done it te l!m#oma"$ %ut for to"e -o are not e/#ert"  in #articular di"ea"e"$ tecan&e" in nomenclature can create an aura of cao"(

At an!one #oint

 in time$ all di"ea"e"

 are not ,non and ne one" come to li&t$ a" occurred it te

"udden emer&ence of retino#at! of #rematurit!$ AIDS$ and "e- 'ere acute re"#irator! "!ndrome( If  a ne cornealdi"ea"e  i" "u"#ected$ it i" e""ential to determine tat it a" not %een de"cri%ed #re'iou"l!( It i" al"o nece""ar! to ma,e"ure tat te condition i" not a 'ariant of a ,non entit!(  Te a&e of 

 

te 

#atient$ 

te 

duration 

of  

"i&n" 

and"!m#tom"$

 

a" 

-ell

Acce#ted for #u%lication A#r )6$ .7))(

From te Du,e Uni'er"it! 8edical Center$ Duram$ Nort Carolina(In5uirie" to 9ordon :( :lintort$ Room .;;$ 8edical Science

Re"earc <uildin& )$ Du,e Uni'er"it! 8edical  Center$ Duram$ NC

.==7> e-mail? ,lint77)@mc(du,e(edu

a" te &enetic %ac,&round and oter factor" in1uence te #enot!#e"$ "ometime" ma,in&  it di0cult or im#o""i%le to

e"ta%li" a #reci"e dia&no"i" on a "in&le #atient itout additional information a%out oter a+ected mem%er" of tefamil!( A" learned from te corneal di"ea"e" cau"ed %! mutation" in te TGFBI &ene$ di"tinct clinico#atolo&ic entitie"are 

not 

nece""aril! 

inde#endent 

di"order"$ 

%ut 

ma! %e fundamentall! more "imilar tan "u"#ected(A

Wen 

a 

ne 

or 

#re'iou"l! 

for&otten 

corneal 

d!"tro#! 

i" de"cri%ed$ te di"co'erer a" te o##ortunit! to namete ne

 

di"order( 

Oter" 

encounterin& 

te 

"ame entit! for

 

te *r"t 

time 

ma! 

%e 

unaare 

of  

an 

earlier 

de"i&nationand

 ma! re#ort  teir 

o%"er'ation" 

under 

a di+erent  term(

 

 Tu"$  te name" of  an entit! ma! "no%all$ #articularl!

en 

one of te ori&inal term" doe" not %ecome e"ta%li"ed( Of all te condition" tat a+ect te cornea$ and indeed

te e!e$ te record num%er of "!non!m" %elon&" to a di"order it multi#le name"  tat 

include 

cronic 

actinic,erato#at!(6

Recurrent corneal ero"ion" occur in a 'ariet! of di"- tinctl! di+erent corneal di"order"$ includin& Fuc"$ lattice t!#eI$ 8ee"mann$ and "u%e#itelial mucinou" corneal d!"tro#ie"$ a" -ell a" in oter condition"( Sometime" terecurrent

 

ero"ion" 

a'e 

an 

auto"omal 

dominant 

metod 

of ineritance and te ero"ion" are te #redominant feature of te condition( Al%ert France"cetti 2)B)B3$ te renoned Si"" o#talmolo&i"t$ #ioneered o#talmic&enetic" and$ to&eter it . collea&ue"$ #u%li"ed a com#reen"i'e .-'olume %oo,$ Genetics andOphthalmol- ogy$  in )C)(; <uried itin  te  *r"t  'olume of   ti"  te/t  i" a  lar&e =-&eneration #edi&ree of afamil! -it recurrent corneal

 

ero"ion" tat e ad #u%li"ed #re'iou"l! in )C.B(

D

 Te clinical feature" of a+ected indi'idual" in ti" famil! ori&inall! ere 

documented 

in 

a 

rudimentar! 

a!$ 

and 

teFrance"cetti #a#er a" cited %! Wei"" and a""ociate" under te %road um%rella of e#itelial recurrent ero"ion d!"tro#!2ERED3() Someat "imilar ca"e" a'e %een named after te &eo&ra#ic location ere te corneal d!"tro#! a"di"co'ered$ a" in te Sedi" #ro'ince" of Smland 2D!"tro#ia Smolandien"i"3=$B and Hl"in&land 2D!"tro#iaHel"in&lanica3($)7  Te"e 'ariant" of ERED "are feature" -it relati'el! minor di+erence"$ and it i" de%ata%le -eter te!are indeed inde#en dent entitie"( Ri&id

 

&eo&ra#ic 

%oundarie" 

do 

not 

enca"e 

corneal 

d!"tro- #ie"$ and de"i&nation"%a"ed on location" are unli,el! to -it"tand te te"t of time$ %ecau"e te &enetic #ool of di+erent mutation" ne'erremain" entirel! in a "in&le communit!(

Commonl! a ne di"order i"

 

named after te *r"t #er"on ,no-n to de"cri%e it$ %ut oter" are la%eled

after a

0002-9394/$3600!oi"#0#0#6/ao20##040#0 % 20## &' E()E*+E, + NC -(( ,+./T) ,E)E,*ED   155

"u%"e5uent autor( Te di"order it recurrent corneal ero"ion" tat a" documented %! France"cetti ori&inall! a"du%%ed hereditary recurrent erosion of the cornea$ %ut it -a" later al"o referred to a" Franceschetti syndrome II( E#on!m"in nomenclature are common$ and man! e#on- !mou" corneal d!"tro#ie" are named after o#talmolo- &i"t"? Ern"tFuc" 2)B;)E)CA7$ Fuc" endotelial corneal d!"tro#!3> Artur 9roenou 2)BD.E)C6;$ 9roenoucorneal d!"tro#! t!#e ) and .$ currentl! ,non a" granular corneal dystrophy and macular corneal dystrophy$re"#ecti'el!3> Aloi" 8ee"mann 2)BBBE)CDC$ 8ee"mann corneal d!"tro#!3> Frederic, W( Stoc,er and L(

<!erl! Holt 2Stoc,er-Holt c orneal d!"tro#!3> 8a/ <Gc,ler" 2)BC;E)CDC$ Rei"-<Gc,ler" corneal d!"tro#!3> Han"-Gr-&en Tiel 2Tiel-<en,e corneal d!"tro#!3> Walter F( Scn!der 2)BC.E)CB7$ Scn!der corneal d!"tro#!3> andHu&o <i%er 2)B6))B3$ Otto Haa% 2)B;7))3$ and Friedric Dimmer 2)B;;E)C.D$ <i%er-Haa%-Dimmer cor- neal

 

d!"tro#!$ currentl! called

 

lattice 

corneal 

dystrophy 

type13$ and te li"t &oe" on and on(

At one time di"ea"e"$ "!ndrome"$ and anatomic "truc-ture" -it e#on!mou" name" -ere referred to in te

#o""e""i'e  form -it an a#o"tro#e$ %ut  ti" #ractice a" fallen into di"re#ute and te trend of not u"in& te

#o""e""i'e form a" &raduall! &atered momentum in medical ritin&()) Wit countle"" di"ea"e" a'in& e#on-!mou" name"$ man! indi'idual" a'e di0cult! learnin& and remem%erin& te caracteri"tic" of te "#eci*c di"order"$%ut a ",ill in recalli n& tem i" a di"tinct ad'anta&e for "omeone intere"ted in tri'ial #ur"uit(

 Te uman de"ire to com#ar tmentaliz e di"ea"e " a" "#aned "o-called "#litter" and lum#er"$ #articularl!

amon& indi'idual" "tud!in& &enetic di"ea"e"( To"e o are "#litter" re&ard eac di"order -it recurrent e#ite- lial

ero"ion"$ "uc a" D!"tro#ia Smolandien"i" and D!"tro#ia Hel"in&landica$ a" di"tinct entitie"$ %ut lum#er" #refer to&rou# all of te"e condition" to&eter a" 'ariant" of ERED( Altou& di+erence" a'e %een detected %eteente ERED"$ an under"tandin& of te %a"ic defect" in eac

 of  tem remain" un,non until te actual mutation"in te re"#on"i%le &ene2"3 a'e %een identi*ed( Until tat time of rec,onin&$ it -ill not %e ,no-n -eter te"econdition" are$ or are not$ 'ariant" of te "ame di"ea"e(

4U<LICATION OF THIS ARTICLE WAS SU44ORTED < 9RANTS R7)E7);)6$ R7))E7).=).$ AND :). E7) FRO8 THE National E!e  In"titute$ National In"titute" of  Healt$ <ete"da$ 8ar!land(  Te autor 29(:(:(3  indicate" no *nancialcon1ict of  intere"t$ and i" "o lel! re"#on"i%le for te content of ti" article(

,E0E,ENCE)

)( Wei""  S$ 8Jller HU$ Li"c W$ et al(  Te  ICD cla""i*cation of te corneal d!"tro#ie"( Cornea .77B>.=2Su##l.3?S) SB(

.( Wei"" S( 8olecular &enetic" and te cla""i*cation of te corneal 

d!"tro#ie"? at ne/tK editorialM

 Am  H O#talmol.77>)6B263?6== 6=B(

A( :lint-ort 9:( Corneal d!"tro#ie"( Or#anet Rare Di"

.77C>6?=(6( :lint-ort 9:( Cronic actinic ,erato#at!? a condition

a""ociated it conuncti'al ela"to"i" 2#in&ueculae3 andt!#i*ed %! caracteri"tic e/tracellular concretion"( Am  H4atol )=.>=2.3?.=6B(

&

7/21/2019 Am J Ophthalmol 2011

http://slidepdf.com/reader/full/am-j-ophthalmol-2011 2/2

;( Waarden%ur& 4$ France"cetti A$ :lein D( 9enetic" andO#talmolo&!( O/ford? <lac,ell Scienti*c 4u%lication"Ltd$ )CD)(

D( France"cetti A( Hereditaere rezidi'ierende Ero"ion derHornaut( Au&eneil, )C.B>DD?A7C EA)(

=( Hammar <$ <Prc, E$ La&er"tedt :$ Dell%! A$ Fa&erolm 4(A ne- corneal di"ea"e -it recurrent ero"i'e e#i"ode" andauto"omal dominant ineritance( Acta O#talmol Scand.77B>2=3B?=;B E=A(

B( Hammar <$ La&ali N$ E, S$ Sere&ard S$ Dell%! A$ Fa&erolm

4( D!"tro#ia Smolandien"i"? a no'el mor#olo&ical #ictureof recurrent corneal ero"ion"( Acta O#talmol .7)7>BB263?

AC6 E 677(

C( Hammar <$ <Prc, E$ Lind H$ La&er"tedt :$ Dell%! A$Fa&erolm 4( D!"tro#ia Hel"in&landica? a ne t!#e of ereditar! corneal recurrent ero"ion" -it late "u%e#itelial*%ro"i"( Acta O#talmol .77>B=23?; E DD;(

)7( Neira W$ Hammar <$ Hoo#ainen 8$ et al( D!"tro#iaHel"in&landicaQcorneal mor#olo&!$ to#o&ra#! and "en-"iti'it!

 in a ereditar! 

corneal 

di"ea"e 

-it recurrent ero"i'e

e#i"ode"( Acta O#talmol .7)7>BB263?67) 67D(

))( I'er"on C$ Cri"tian"en S$ Flana&in A$ et al(  A8A 8anualof  St!le? A 9uide for Autor" and Editor"(  Tent ed( O/ford?O/ford Uni'er"it! 4re""$ .77=>==B E=B7(

156 -1E,+C-N 234,N-( 3 3P/T/-(13(3.' -4.4)T 20##