Cataract Congenital Nova

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Cataract, Congenital

Mounir Bashour, MD, CM, FRCS(C), PhD, FACS,Assistant Professor of Ophthalmology,

McGill University; Clinical Assistant Professor of Ophthalmology, Sherbrooke University;Medical irector, Cornea !aser and !asik M Johanne Menassa, MD,Staff Physician,

epartment of Ophthalmology, University of !aval "ospital, #$ebec City; C Corina

Gerontis, MD,Cons$lting Staff, epartments of Pediatrics and Ophthalmology, Schneider

Children%s "ospital&!ong 'sland (e)ish Medical Center

Updated* ($n +, --.

Introduction

Background

A cataract is an opacification of the lens/ Congenital cataracts $s$ally are diagnosed at birth/

'f a cataract goes $ndetected in an infant, permanent vis$al loss may ens$e/ 0ot all cataracts

are vis$ally significant/ 'f a lentic$lar opacity is in the vis$al a1is, it is considered vis$ally

significant and may lead to blindness/ 'f the cataract is small, in the anterior portion of the

lens, or in the periphery, no vis$al loss may be present/

Unilateral cataracts are $s$ally isolated sporadic incidents/ 2hey can be associated )ith

oc$lar abnormalities 3eg, posterior lenticon$s, persistent hyperplastic primary vitreo$s,

anterior segment dysgenesis, posterior pole t$mors4, tra$ma, or intra$terine infection,

partic$larly r$bella/

5ilateral cataracts are often inherited and associated )ith other diseases/ 2hey re6$ire a f$ll

metabolic, infectio$s, systemic, and genetic )ork$p/ 2he common ca$ses are hypoglycemia,

trisomy 3eg, o)n, 7d)ard, and Pata$ syndromes4, myotonic dystrophy, infectio$s diseases

3eg, to1oplasmosis, r$bella, cytomegalovir$s, and herpes simple1 82O9C":4, and

premat$rity/

Pathoh!siolog!

2he lens forms d$ring the invagination of s$rface ectoderm overlying the optic vesicle/ 2he

embryonic n$cle$s develops by the si1th )eek of gestation/ S$rro$nding the embryonic

n$cle$s is the fetal n$cle$s/ At birth, the embryonic and fetal n$clei make $p most of the lens/

Postnatally, cortical lens fibers are laid do)n from the conversion of anterior lens epitheli$m

into cortical lens fibers/

2he s$t$res are an important landmark beca$se they identify the e1tent of the fetal n$cle$s/

!ens material peripheral to the s$t$res is lens corte1, )hereas lens material )ithin and

incl$ding the s$t$res is n$clear/ At the slit lamp, the anterior s$t$re is oriented $pright,

and the posterior s$t$re is inverted/

Any ins$lt 3eg, infectio$s, tra$matic, metabolic4 to the n$clear or lentic$lar fibers may res$lt

in an opacity 3cataract4 of the clear lentic$lar media/ 2he location and pattern of thisopacification may be $sed to determine the timing of the ins$lt as )ell as the etiology/


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Fre"uenc!

#nited States

'ncidence is cases per


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Cataracts in the center of the vis$al a1is that are greater than mm in diameter are

generally considered vis$ally significant/ 2his principle is f$rthermore correlated )ith

the clinical ophthalmological e1amination of the patient/

A st$dy by the epartment of Pediatric Ophthalmology of the ?ills 7ye "ospital

concl$ded that, in terms of the risk factor for amblyopia, more important than thecataract si@e is the anisometropia ind$ced by the congenital anterior lens opacities

3CA!Os4/8< :Patients )ith CA!Os )ho have anisometropia of < diopter 34 or more

are >/D times more likely to develop amblyopia/8< :

Ph!sical

A lentic$lar opacity is called a cataract/ 0ot all cataracts are vis$ally significant/

escription of a congenital cataract m$st incl$de location, color, density, and shape

for p$rposes of identification/

An irreg$lar red refle1 is the hallmark of vis$al problems/ 'f an irreg$lar red refle1 is

detected at the initial screening, this is $s$ally an indication that a congenital cataract

might be present and an ophthalmology cons$ltation is )arranted/

!e$kocoria or )hite refle1 can be the presenting sign of a cataract/ 'n fact, in a --+

st$dy by "aider et al, >-B of patients )ho presented )ith le$kocoria had congenital

cataracts 3


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'nfectio$s ca$ses of cataracts incl$de r$bella 3the most common4, r$beola, chicken

po1, cytomegalovir$s, herpes simple1, herpes @oster, poliomyelitis, infl$en@a,

7pstein=5arr vir$s, syphilis, and to1oplasmosis/

Di''erential Diagnoses

9etinoblastoma

ther Pro%les to Be Considered

Corneal opacity 3$lcer, scar, dermoid4

Persistent hyperplastic primary vitreo$s

9etinal detachment

!entic$lar coloboma

*orku

+a%orator! Studies

or $nilateral cataracts, laboratory st$dies incl$de 2O9C" titers and enereal

isease 9esearch !aboratory 39!4 test/

or bilateral cataracts, laboratory st$dies incl$de C5C, 5U0, 2O9C" titers, 9!,

$rine for red$cing s$bstances, red cell galactokinase, $rine for amino acids, calci$m,

and phosphor$s/

Iaging Studies

C2 scan of brain

ther ests

"earing test

reatent

Medical Care

Medical therapy is directed at the prevention of amblyopia/

Surgical Care

Cataract s$rgery is the treatment of choice and sho$ld be performed )hen patients areyo$nger than


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ophthalmologists opt for s$rgery m$ch earlier, ideally )hen patients are yo$nger than

months, to prevent irreversible amblyopia and sensory nystagm$s in the case of

bilateral congenital cataracts/ 2he delay in s$rgery is beca$se of gla$coma/ Since

gla$coma occ$rs in months/ 2hey concl$ded that 'O!s

and aphakic C!s s$pport similar vis$al ac$ity development after s$rgery for a

$nilateral cataract/ 'O!s may s$pport better vis$al ac$ity development )hen

compliance )ith C! )ear is moderate to poor or )hen a cataract is e1tracted in a

patient older than < year/

A st$dy )ith promising preliminary res$lts concerns the primary implantation of

fle1ible 'O!s in infants yo$nger than < year/8D :2he pop$lation st$died incl$des infants

aged = :2hese findings have implications for the calc$lation of 'O! po)er/ Hm

val$es )ere significantly greater, and A! readings )ere shorter, in yo$nger children

3pJ-/--


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readings from the clear lens eye )ere available 3n/ .4, Hm val$es of the affected eye

)ere significantly greater than that of the fello) healthy eye 3pK-/--F4/

Consultations

An ophthalmology cons$ltation is essential to prevent vis$al loss as )ell as to makethe appropriate diagnosis of the type of cataract/

A genetics eval$ation is )arranted if bilateral cataracts or any other anomalies are

present/

Diet

9estriction of galactose, if galactosemia is present, may reverse the progression of the classic

Loil dropletL cataract/

Follo-.u

Deterrence$Pre/ention

A red refle1 is essential not only in the ne)born n$rsery b$t also in all office visits/

re6$ent eye e1aminations help in the prevention of amblyopia/

re6$ent gla$coma screenings are needed thro$gho$t the patients lifetime/

Colications

!oss of vision even )ith aggressive s$rgical and optical treatment

Amblyopia

Gla$coma

Strabism$s

9etinal detachment

Prognosis

Of persons )ith $nilateral congenital cataracts, E-B develop vis$al ac$ity of -&>- or

better/

Of persons )ith bilateral congenital cataracts, F-B develop vis$al ac$ity of -&>- or

better/

2he prognosis is poorer in persons )ith other oc$lar or systemic involvement/


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Patient 0ducation

9emoval of the cataract is only the beginning/ is$al rehabilitation re6$ires many

years of refractive correction 3eg, contact lenses, aphakic glasses4, possible patching

for amblyopia, possible strabism$s s$rgery, and gla$coma screenings/

Patients m$st be made a)are of the risk of potential vis$al loss from amblyopia,

retinal detachment, or gla$coma/

9epeated s$rgical proced$res, incl$ding a secondary lens implant if other modalities

of refractive correction fail, may be needed/

'f this is a de novo chromosomal change or a familial abnormality, all siblings and

f$t$re offspring are at risk/

or e1cellent patient ed$cation reso$rces, visit eMedicine%s 7ye and ision Center/Also, see eMedicine%s patient ed$cation article Cataracts/

Miscellaneous

Medicolegal Pit'alls

Since there is a high association of systemic and metabolic abnormalities, genetic

cons$ltation is essential for those patients )ith bilateral cataracts/ Some diseases may

be preventable if diagnosis is made early/

Re'erences

4*DF=E


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F/ 5iglan A?, Cheng HP, avis (S, et al/ Secondary intraoc$lar lens implantation after

cataract s$rgery in children/Am J Ophthalmol/ eb


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a member of the follo)ing medical societies* Alpha Omega Alpha, American Academy of

Ophthalmology, American Association for Pediatric Ophthalmology and Strabism$s, and

American Medical Association isclos$re* 0othing to disclose/

Medical 0ditor

Richard * Allinson, MD,Associate Professor, epartment of S$rgery, 2e1as ANM

University "ealth Science Center; Senior Staff Ophthalmologist, Scott and ?hite Clinic

9ichard ? Allinson, M is a member of the follo)ing medical societies* American Academy

of Ophthalmology, American Medical Association, and 2e1as Medical Association

isclos$re* 0othing to disclose/

Pharac! 0ditor

Sion 1 +a-, MD, PharD,Assistant Professor of Ophthalmology, ($les Stein 7ye

'nstit$te; Chief of Section of Ophthalmology S$rgical Services, epartment of eterans

Affairs "ealthcare Center, ?est !os Angeles Simon H !a), M, Pharm is a member of the

follo)ing medical societies* American Academy of Ophthalmology, American Gla$coma

Society, and Association for 9esearch in ision and Ophthalmology isclos$re* 0othing to

disclose/

Managing 0ditor

J Jaes Ro-se!, MD,ormer irector of Corneal Services, St !$ke%s Cataract and !aser

'nstit$te, lorida ( (ames 9o)sey, M is a member of the follo)ing medical societies*

American Academy of Ophthalmology, American Association for the Advancement of

Science, American Medical Association, Association for 9esearch in ision and

Ophthalmology, lorida Medical Association, Pan=American Association of Ophthalmology,

Sigma i, and So$thern Medical Association isclos$re* 0othing to disclose/

CM0 0ditor

+ance + Bro-n, D, MD,Ophthalmologist, Affiliated ?ith reeman "ospital and St (ohn%s

"ospital, 9egional 7ye Center, (oplin, Misso$ri isclos$re* 0othing to disclose/

Chie' 0ditor

&aton Ro! Sr, MD,Associate Clinical Professor, epartment of Ophthalmology,

University of Arkansas for Medical Sciences "ampton 9oy Sr, M is a member of the

follo)ing medical societies* American Academy of Ophthalmology, American College of

S$rgeons, and Pan=American Association of Ophthalmology isclos$re* 0othing to disclose/

Further Reading


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Cataract Congenital Nova

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