En Conproiect

ChoroidalnaevusChoroidalnaevi are prcsentin 5-10%of Caucasiansbutarevery rarein dark-skirmedraces.Theycanbeassociatedwith NF1 and the dysplasticnaevussyndrome.Althoughthey are probably preient at birth, growth occursrnainiyduring the prc-pubertal years and is extremelyrare inadulthood.For this reasonclinjcallydetectablegrowLhsnouroarousesusPrclonoI ma[8nanc],Histo!ogyThe tumoul is composedoI a Plolileration of spindlecellmelanoc)'tes(Fit. 12.21A).S,gns1. Prsntatifi.Thevastrnajorityof naeviareasympto-_ matic and detectedby routineexamination.Rarelys).mptomsmaybecausedbyinvolvemmtof ihfoveaby the tumow itrelf or by serousrctinaldetachment.2.Signeof a tlaical naevui. Usuallypogt-equatodal,oval or circular,brownto slate-greylesionwith hdistinct martins (Fig.12.218).. Dimensionsareasawhite mass(Fig. 123aq that may,sed,intoihe virre-ous(Fis.12.34D).' An exophytic tumour forms subretinat,multitobularwhite masses(Fig 12-34E)and causesoverlyingferinaldetachment(Iig. 12.34F).Investigations1. Redrdlex te3tin8with a dire.l ophthatmoscopehasDeenrecorrm)endedasa screenhttestin lhecommu_ruty. Anyas].mnehy indicatesfulleye examination\qjthpupildilatation and immdiate referarrcarophthalmologist.2.ExaminationunderanasthEia includesthefollowingi" Ceneral examinationfor congenitalabnormalitiesof the faceand hands. Tonometry.. MeasuremenloI tlte comealdiameterand, ifgiau-comaB presmt, the axial length of the eye.. Anterior chamberexaminationwitha liand-heldslit-lamp.. Ophthalmoscopy,documentingaIfindings withcolourdrawingsor photosraDh:v.3.USisu.edmainly-toassesstr:iroLuitze.ltalsooerecrscalcificationwjthinihe tumour (Fig. 12.35A)and ishelpful,inLhediagnosisof simulatinitlesionssuchas{.CT alsodetectsLdlcification(Fig.12.358)but entaijsasjgmficant dose ofradjarion aidbperformed onJyftrely.5.MR .annotdetectcalcificarionbuLit is supefiorto C]lor opticnerveeraluaiionanddetectionofexhaorularexien.ionor pinaloblastoma [fi8. 12.35C),especiallywrth contlasrand tdt sLrppression.VRmay alsobeusetulto differentiatererinoblasromaFromsimulatrngconditions.6.SFteriicassessmentincludes physical examinationand MR scansof the orbit and 6ku1l,as a minrmum Inhigh-rislcdses.U tieseindicateLhepresence of meta-stdtjcdisease$en bonescars,bone nrarow arpirationand lumbar punctue ate alsopeormed.7,Geneticstudiesrcquire ftesh tumout tissuefrom thenucleatedeye and a blood samplefor DNA analysis.Bloodsamplesfrom the patieni'srelativesand a spemsamplefrom the fathe! may alsobe useful.Tteatnent ofsnalltunoursTumours no more than 3 mm diameterand 2 nmthick-nessmay be treatedas foliows:1.Photocoagul*ionu.rrg low.ener$ 532nn drSonor8t 0 1m di odpl . -era(hrevest ocdl aonoi dar; onart erchemod^erapy.At leabrthreetrearmenl.essions areneedd,2,Cryotherapyusing ihe h.ipleIreeze+hawteclnique isusefulfor pre,equaiorial tumours without either deepinvasion or vitreous seeding.3.Chmothenpywiihout6therheatmmrcanbeattemptedfor a maculartumour, to conserveas muchvision as possible,buithere isan increaseddskoftumout rccunnce,Treatnentofnediun.sizetunourcTumours upto12 mm wideand 6 rnm thick maybhatedasfollowsl1.Brachltherapy usinSiodine-12sor ruthenium,106isindicatedfot an aniedor tumour if thereis no vrreousseeomS.2,Pdmary chmothrapy withintavenous ca$oplatinetoposideandvincr;tine {CIV)is glvm u t}ueetosircyclesaccordint.rothegrade of red;obtaslomaSintteagent chemoreducLion wirhcarboplatinatonelia.recenLlybenfound ro give similarresuttsto multi_"t"rl lh"."py. Systemic heatmnt can besuppte_mented withsub-Tenon carboplatin iniections._ihismay be followed by local treatmentwitiicryotherapyor mto consolidate tumour control3,Erlenal beamradiother.py is avoided,iI possibte, inpatientswith heritablererinobtastorna bec;useof rherisk,ofindudnga secondrnaljgnancy.Hypoptaeiaoftn DonyorbrLcano.cur,especiallvif radrotherapyisadmiru"steredin ihe fust 6 nionths'oI life.freatmentof largetunours1.Chemothenpy tosMnkthe tumour (chemoreduc_tion),Jacilirahntsubsequmtlocaltredhrent,therebyavordrngenucteabonor externalbeamrddio$erapy.Chemotherapywillalso have a beneficialeflet if-asnlailer tumour ic presentin the tellow eye or iftherers a Putealobtastorha.2.Enucleationis indicatediIthele is rubosis,\,{reoushaemor.hageor optic nerve inva6ion.Itis also per-formed if chemoreduction fails or a normal lellow eyemalesagFessivechemothempy inappropriareand i5aiso u5fui tord;ftuse retfoliasroir'abecauseofdpoor \/iualprognocisand hjthrisk ol recurrencewr Lhother therapeuticmodalrties.Enucleahonshoujdbeperformedwhminjmalmapujarion andrtrsimperativeto obtaina )on8pjectof op6cnerve(12-l5 nm). Theorbitaiirnplantshould beaslarg.aspor_s;ble.Tnonrapsuleand.onjunctjva should-beclosedsepa]ately,Tteatnent0fextnocular extensionl.Adiuvant chemorherapy consisringofa6-monthcourseof CEV is given ajter enucieatjonby somecenb.esifthere is reholarninal or massivechoroialalsPead.2.Extemal beamhdiothenpy bindicatedwhen thererstumoureltmsion to $e.Lrrend of rheopticnerveaLenucreahon,or exlen5ionthrougl-dtes.'era,( , l Li ri r,.r| ()frni ha{l i rtri r:glI51, 1iF19.12.34Slgnsoi retinoblastoma.(Al Smatperipherattumour;(B)ntraretnaiumour;(C)erdophlticturnouri {0) endoph},tictumo!rwjthvitreousseding;(tl r(ophyticturnour; {R rotatretnaldelachmert(cctiesyat B DixanFahanaffkauas c and D: L MatteentiE. E)I515.Arrnr?drorhcrapyo' .Jemrt -nr. pi .1-. orr, , *a, . , .l o c . . ol rage. r' 1,ere Ld\ ' t i edTa*r. i gt 2 l bB) "tanslucent'fishflesh'mass,anlxiureof[orh, or a flat. New tunours candevclopin patieniswith htab,rclrnoblastoma,espcciallyihos ireatedataveryyounSa8c.' If rednoblastomahasbeenharedconse aiivelyEUAi -_nF. a. d1 e\ cn 2 ro8*eel - unrit hedt Fot . year..r'pr wfu,h ,unF e\dmirationw thourande.rne,rdriperforndevcry 6 nonths uniil the aseof about5years.thcnannuallyuniil rhea8eof about10ycals.Ilg,!1.35lmagirgof retinoblastoma. {A)B scanwithtowg,ain showsechoesfrorncatcilicaton;(!) axtalCTshows0 ateralumoufsandcacfcationi {C)sagtta lvlRshowsapnealoblastoma wth secondaryhydrocephaluslclunesy0t ,{ N6chartiE.A:aD Sin1h,t'ton Ctintd A1hthatntc pathato1y,.and.ts Etseiet,2AA7 - fiq.C)t19.12.36BfachJ.'thempyfor retirobtastoma. {A) Seforetreatrnenti(8)'coftag+chees appearanceaftertreatment. OrbjlalMR is indicated;nhighrisk casesfor abouti8months.Ifthe child has any dsk ofdevlopjngasecondmaliSnantneoplasm,the parcnis shouid beeducatedto bealerttofeaiuresof pain,lendernessandrheli -t andl o reelrredi cal ol l ml i o- J l hp, .' .noimprovementin a week.DiffercntialdiaEnosis1.Prsistntantedorftal vasculature(persisienthypr-plastic pdmary vitreous) is conlined tothe ,nteriorsegmentand often involvesihe lens. Bseniationiswiih leukocoria(Fi8.12.37A)duetoaretrolnlal mass jnto whichelongated cjliaryp'oce5:c.drein\ened1Ii8.l2.lmdnd a). With time,themassconhacisandpullsthe ciliaryprocessescentrally so ihatthey becomevisibleihroughthepupil.. Complicationsincludecataract(Fig.12.37D)formafiondueto a capsulardehiscence.. Treatmentinvolving vitreoretinal surgery may besuccessfulin selectedearlycasesin salvaginSsometlg,12.37Persistentanteriorfetalvasculatufe. lA) Lukocoria;invoNement;{Dl advancedcasewlthcataractPersistentposteriorftal vasculatwe js confr,]led toihe posteiior segmentand th lens is usLrallyciear. Presentatjoniswithlukocoda,strabismus ornystagmus.. Adensefold ofcondensdvitreousand rennaextendsfuomthe optic disc to the ora s(atd andjs associaiedwith retinaldtachment(Iig. 12.38).. Treatmentis not possible.Coats diseaseisalmost always rmilaieral, uprecommonin boysand iends to presentlater thanrcrbo.blasioma(seeCh.13).Rtinopathy of prrnat'rrity, ifadvanced,may causeretinaldetachment andlukocoria. Diagnosis isu