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442 Color Atlas of Ophthalm ology

Weill-Marchesani Syndrome

Weill-March esan i syn drom e is a rare au tosom al, recessive, system ic, con n ect ive t issue disorder, ch aracterized by sh or t st at ure, brachydact yly, an d st iff join t s. Pen - et ran ce is variable an d con sanguin it y is often presen t .

Presentation

Ocu lar feat ures

Ectopia len t is, bilateral an d in ferior, occurs in ~50%of cases du ring th e teen years or early t w en t ies.

Microsph eroph akia is th e m ost p rom in en t feat ure of th is syn drom e.

Secon dar y angle-closure glau com a due to p upillar y block

Lenticular m yopia, asym m etrical axial lengths, presenile vitreous liquefaction

Oth er feat u res

Sh or t st at u re, brachyceph aly, lim ited join t m obilit y, w ell-develop ed m uscu - lar appearan ce, an d n orm al in telligen ce

Management

Radiography of th e m et acarpals is im por tan t . Treat angle-closu re glau com a w ith m ydriat ics an d laser iridotom y. Th e fellow eye m u st be kept on m iot ics to preven t a sim ilar occu rren ce. Rule ou t oth er causes of len s sublu xat ion an d t reat it if th e pat ien t is sym ptom at ic.

Pseudoxanthoma Elasticum

Pseudoxan th om a elast icum (PXE) is a rare gen et ic disorder ch aracterized by progressive calcificat ion an d fragm en tat ion of elast ic fibers in th e skin , ret in a, an d cardiovascu lar system , w h ich is referred to as elastorrhexia.

Presentation

Ocu lar feat ures

Angioid st reaks of th e ret in a, w h ich are slate gray to reddish brow n cu r vilin - ear ban ds radiat ing from th e opt ic disk. Th ey resu lt from calcificat ion of th e elast ic fibers in th e Bru ch m em bran e of th e ret in a. Th ey are presen t in 85%of pat ien ts w ith PXE.

Fibrovascular ingrow th in th e ret in a m ay lead to ret in al h em orrh age.

Developm en t of subret in al n eovascular m em bran e can cau se loss of cen t ral vision .

Yellow ish speckled m ot tling described as peau’d’orange in seen in th e tem - poral qu adran t of th e ret in a.

Cu tan eous fin dings

Plaques are seen on th e lateral part of th e n eck an d involve th e an tecubital fossa.

Cardiovascular fin dings

Hyperten sion , coron ar y in farct ion , m it ral valve prolapse

Oth er fin dings

Gast roin test in al bleeding, perip h eral vascu lar diseases

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Management

Skin biopsy is diagn ost ic. Radiograph s of th e m et aphyseal join ts an d n euroim aging are don e to ru le out associated lesion s.

Tuberous Sclerosis (Bourneville Disease)

Tu berous sclerosis is an au tosom al dom in an t disease w ith in com plete pen et ran ce. It is a rare, m u lt isystem disorder w ith h am ar tom as in th e brain an d on oth er vital organ s such as th e kidn eys, h ear t , eyes, lu ngs, an d skin (Fig. 15.9).

Presentation

Th e cu t an eou s feat u res in clude aden om a sebaceu m (angiofibrom a, w h ich appears on th e n ose an d ch eeks in a bu t terfly dist ribut ion ), u ngu la or su bu ngu al fibrom as, hypom elan ic m acu les called ash leaf spots, café-au -lait spot s, lu m bosacral sh agreen patch es, an d foreh ead plaques. Oth er feat u res in clude CNS involvem en t in th e form of su bepen dym al n odules an d cor t ical/subcor t ical t u bers, learn ing difficu lt ies, seizu res, ren al angiom yolipom ata, cardiac rh abdom yom a, an d p ulm on ar y fibrosis.

Ocu lar involvem en t in clu des th e follow ing:

Ret in al ast rocyt ic h am ar tom as, w h ich appear as a grayish or yellow ish w h ite lesion , 1 to 2 disk diam eters on th e ret in a. Th ese can calcify an d m ay be seen on

a CT scan .

Gian t drusen of th e opt ic n er ve h ead

Angiofibrom as of th e eyelids, colobom as, an d p apilledem a m ay be seen .

Management

A m ult idisciplin ar y team approach is requ ired w ith p eriodic m on itoring for in ter- n al t um ors. Progn osis is gen erally p oor, w ith death by th e secon d or th ird decade.

Fig . 15.9 Bourneville disease spot in a patient with suspected tuberous sclerosis.

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Sturge -Weber Syndrome (Encephalofacial Cavernous

Hemangiomatosis)

Th is n eu rocu tan eous disorder com prises angiom as involving th e leptom en inges (leptom en ingeal angiom as) an d skin of th e face, t yp ically in th e op h th alm ic (V1) an d m axillar y (V2) dist ribu t ion s of th e t rigem in al n er ve (n evu s flam m eu s or p or t- w in e st ain ). It h as n o defin ite in h erit an ce p at tern .

Presentation

Classificat ion u ses th e Roach scale:

Type I: Both facial an d leptom en ingeal angiom as; m ay h ave glau com a

Type II: Facial angiom a alon e (n o CNS involvem en t); m ay h ave glau com a

Type III: Isolated leptom en ingeal angiom as; usually n o glau com a

Cran ial h em angiom as, cerebral calcificat ion , m en t al retardat ion , an d seizures m ay also be seen .

Ocular involvem ent m ay consist of glaucom a in 30 to 71%, w h ich m ay develop early or in adulth ood . Conjun ctival or episcleral hem angiom as, h eteroch rom ia of th e iris, an d ch oroidal h em angiom as m ay also be seen . Tom ato-catsup color of th e fundus m ay be seen ipsilateral to the n evus flam m eus. Ch oroidal hem angiom as m ay lead to RPE degen erat ion, fibrous m etaplasia, cyst ic retin al degen erat ion, an d retinal detach m en t . Retinal vascular tort uosit y, iris h eteroch rom ia, optic disk colobom a, an d cataracts m ay also be seen in th ese patien ts.

Management

System ic evalu at ion sh ou ld be don e by an in tern ist . Treat m en t in clu des yearly exam in at ion s, looking for opt ic n er ve dam age (w ith m easurem en t of in t raocular pressure an d visual fields) an d corn eal diam eter an d refract ive ch anges in ch ildren . Ch oroidal lesion s m ay be t reated w h en in dicated w ith ph otocoagulat ion , diath erm y, cr yoth erapy, an d local irradiat ion .

Von Hippel-Lindau Syndrome (Retinocerebellar Capillary

Hemangiomatosis)

Von Hippel-Lin dau Syn drom e is a ben ign capillar y h am artom a w ith au tosom al dom in an t in h erit an ce w ith variable pen et ran ce.

Presentation

Hem angioblastom as in th e cerebellum an d oth er organ s of th e body along w ith cyst s of th e pan creas an d kidn eys, ph eoch rom ocytom a, an d hypern eph rom a m ay be seen . Ocu lar involvem en t in cludes th e follow ing:

Ret in al capillar y h em angiom as, 1 to 3 disk diam eters in size an d supplied by a feeder ar ter y, m ay be seen .

Ch oroidal m ass (t u m or/m et ast asis)

Ret in al telangiect asis

Ret in al m acroan eur ysm s

Leakage from th ese vessels an d h em angiom as m ay lead to ret in al exu dates, fibroglial ban ds, t ract ion ret in al detach m en t , an d vit reou s h em orrh age.

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Management

Van illylm an delic acid levels in u rin e an d im aging st udies are requ ired w ith periodic evaluat ion .

Wyburn-Mason Syndrome (Racemose Hemangiomatosis)

Ar terioven ou s m alform at ion s (AVMs) are seen in th e CNS an d th e ret in a.

Presentation

Neu rological sym ptom s m ay be seen depen ding on th e locat ion an d severit y.

Classifica tion of Retina l Arteriovenous Anastomoses (Archer et a l)

Group I: Sm all arteriole-ven u le an astom oses, w h ich m ay be su btle an d difficu lt to detect clin ically. Th ese vessels are usually isolated to a sector or quadran t of th e ret in a, an d th ey often involve th e m acula.

Group II: Represen t s direct ar ter y-to-vein com m un icat ion w ith ou t in ter ven ing capillar y or ar teriolar elem en t s. Th is group m ay represen t an exaggerated form

of th e abn orm alit ies in cluded in group I, an d it is likew ise geograph ically seg- m en ted w ith in th e fu n du s.

Group III: In cludes m alform at ion s ch aracterized by m arkedly convolu ted, dilated, an d tor t uou s ret in al vessels exten ding th rough out th e en t ire fun du s,

m aking it vir t ually im possible to differen t iate bet w een ar terial com pon en t s an d ven ous com pon en t s. Th ese eyes are u sually severely vision im paired, w h ich gen erally leads to earlier diagn osis in ch ildh ood . Pat ien t s in th is group are at h igh er risk for system ic vascu lar involvem en t .

Management

Refer for n eurological evalu at ion , an d perform rout in e, periodic oph th alm ic exam in at ion s.

Ataxia-Telangiectasia (Louis-Bar Syndrome)

Presentation

Th is is an au tosom al recessive disorder w ith m u lt isystem involvem en t in th e form of progressive n eu rological im p airm en t , cerebellar at axia, variable im m un odeficien cy w ith suscept ibilit y to sin opulm on ar y in fect ion s, im paired organ m at ura- t ion , x-ray hypersen sit ivit y, ocu lar an d cut an eou s telangiect asia, an d a predisposi- t ion to m align an cy.

Bu lbar conjun ct ival telangiect asias along w ith ocu lom otor sign s are diagn ost i- cally im por tan t . Saccadic im balan ce m ay also be seen along w ith squin t an d nystagm u s.

Management

Laborator y st udies for detect ing h u m oral or cellular im m u n ologic defect s, im aging st u dies, elect ro-ocu lography, an d ocular evalu at ion are requ ired . Th e pat ien t sh ould be referred to an in tern ist for t reat m en t of in fect ion s.

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E F

Fig. 16.1 (Continued) (E) 4+ (severe) corneal edema. (F) Clinically significant corneal edema.

Presentation

St riae are recogn ized as fin e, m esh like, grayish w h ite ver t ical lin es th at do n ot in tercon n ect . Th ey m ay appear sim ilar to w h ite bran ch ing n eural fibrils. Con t act len s–in duced hypoxia leads to a ch ange in th e h om eostat ic balan ce of th e corn ea an d th e det u rgen ce or u pt ake of flu id in to th e corn eal st rom a. Th e su btle in crease in flu id in duces sw elling of collagen fibrils leading to th e appearan ce of th e fin e, m esh like ch aracter of st riae. Th e st riae w ith con t act len s corn eal edem a ten d to appear sligh tly m ore obliqu e th an th e Vogt vert ical st riae associated w ith keratocon us. Th ey are graded as in Table 16.1.

Folds are seen as black, ver t ical criss-crossing creases th at represen t a buckling of th e corn ea at th e posterior st rom a–Descem et layer. Both fin dings are best obser ved in direct focal illu m in at ion u sing a m oderately angled p arallelepiped .

Table 16.1 Grading Corneal Striae

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Table 16.2 Corneal Edem a Levels

Cen t ral corn eal clouding or h aze occurs at th e corn eal apex as a w h iten ed region th rough out th e st rom al depth , w h ich w ill bu lge. Th e cen t ral corn ea w ill exh ibit severe ep ith elial th in n ing w ith su bsequen t redu ct ion in vision an d len s in toleran ce. Cen t ral corn eal clou ding is best visu alized w ith sclerot ic scat ter an d/or m oderate angle parallelepiped (Table 16.2).

In th e in it ial stages, pat ien t s w ill gen erally h ave n o sym ptom s oth er th an a m i- n or to m oderate level of len s aw aren ess, glare sen sit ivit y, an d h alos. Visu al acuit y w ill be sligh tly to m oderately reduced an d possibly n otable keratom et ric–topo- grap h ic distor t ion w ill be presen t . Pachym et r y w ill be sh ow ing a m ild to m oderate in crease from baselin e. As th e corn eal edem a progresses, th ere w ill be a m arked visu al distor t ion appreciated by th e pat ien t as w ell as n ot iceable cloudin ess or h aze to vision . If th e pat ien ts en ter th e severe state, th en th ere w ill a m u ch defin ed decrease in vision an d in creased ocu lar discom for t accom p an ied by a variable level of “red eye” an d ocu lar congest ion . Th is m ay act ually m im ic a form of iridocyclit is. If epith elial breaks subsequ en tly occu r, th ere is a h igh er poten t ial for oppor t un ist ic in fect ion .

Differential Diagnosis

Tigh t len s syn drom e, corn eal w arpage, corn eal u lcer, oth er cau ses of con tact len s– related discom fort , an d redn ess. Rule ou t oth er corn eal degen erat ion s an d dyst roph ies su ch as keratocon u s, pellucid, posterior p olym orph ous dyst rop hy, or Fuch s en doth elial dyst rophy, as w ell as postoperat ive edem a, acutely elevated in t raocu - lar pressure (IOP), or iridocyclit is.

Management

Discon t in ue w earing len ses un t il resolu t ion . Clin ical aftercare an d pat ien t educa- t ion n eed to be m ore aggressive to m on itor for m ore advan ced sign s of edem a an d possible corn eal irregularit ies via biom icroscopy, pachym et r y, topography, en doth elial cell cou n t , an d refract ion . En doth elial cell cou n t w ill be n ecessar y on ly if on e suspects en doth elial cell disease or loss. Pachym et r y of th e n orm al corn eal th ickn ess m easu res ~0.55 m m cen t rally, progressing in n at u ral th ickn ess to ~0.8 m m in th e corn eal periph er y. Result an t corn eal edem a associated w ith variou s disease st ates w ill be su spect w ith th e cen t ral corn eal th ickn ess above 0.6 m m . Serial m easu res w ill assist in th e determ in at ion of t reat m en t su ccess.

450 Color Atlas of Ophthalm ology

If th e corn eal edem a is less th an 5%(caut ion ), th e pat ien t requ ires a refit to h igh w ater con ten t hydrogel or silicon e hydrogel m aterial. High w ater con ten t m aterials th at m ain tain proper hydrat ion are crit ical, an d th erefore a grou p 2 n on ion ic, h igh w ater m aterial is suggested . A refit to a h igh diffu sion coefficien t rigid gas per- m eable len s is also h igh ly advisable. Both gas perm eable an d soft len s m odalit ies sh ould be st rictly p rescribed for a daily w ear sch edule; exten ded w ear sh ou ld be forbidden . If th e edem a is greater th an 5%, but less th an 8%(m oderate to dangerous), th e sam e con tact len s refit approach is pu rsued w ith th e in ten t of in t rodu c- ing m edicin al in ter ven t ion based on subject ive fin dings, su ch as reduced visu al acuit y, clin ically sign ifican t corn eal h aze, an d pachym et r y.

Fin ally, if th e edem a is 9%or m ore (path ological), len ses n eed to be discon t in ued w ith th e adm in ist rat ion of eith er or both hyper ton ics an d steroids to draw corn eal fluids an teriorly out of th e st rom a. At th is st age, corn eal irregularit ies such as m i- crocyst ic eru pt ion s, a decrease in epith elial th ickn ess, an d an in crease in st rom al th ickn ess w ill be n oted . Len ses sh ou ld n ot be refit u n t il m icrocyst s part ially resolve an d th e edem a is redu ced . W h en refit , th e pat ien t sh ould lim it th e h ours of w ear an d be rest ricted to daily w ear h igh dK w ater con ten t len ses.

Hyp erosm ot ic agen t s su ch as sodium ch loride 2 to 5%drops or oin t m en t are th e first n on m edicin al t reat m en t . Steroid agen ts su ch as predn isolon e 1%w ith a taper to fluorom eth olon e or lotepredn ol 1%w ill be of assist an ce in a m ore rapid redu c- t ion of appreciable corn eal h aze from edem a. Caut ion sh ould be taken if th ere is bacterial or viral co-disease or if th e pat ien t m ay be a steroid respon der. Also, ow ing to th e su perficial corn eal t reat m en t , a steroid of a ph osph ate agen t , low er corn eal–an terior ch am ber pen et rat ion is m ore appropriate th an an acet ate preparat ion . In gen eral, based on th e level of corn eal edem a, t reat m en t result s m ay be seen w ith in 24 to 48 h ou rs of len s discon t in uan ce alon e, but resolut ion in relat ion to severit y w ill take p lace over 2 days to 2 w eeks. As a n ote, if th e corn eal edem a is related to a disease state, such as pseudoph akic bullou s keratopathy, a ban dage con tact len s sh ould be con sidered for pain con t rol as w ell as allow ing th e dosing of steroid as n ecessar y.

Contact Lens–Induced Papillary Conjunctivitis or Giant Papillary Conjunctivitis

Con tact len s–in du ced papillar y conjun ct ivit is (CLPC) w as first described as a “con - tact-related spring cat arrh ” or vern al keratoconjun ct ivit is (VKC). Later, gian t papillar y conju n ct ivit is (GPC) received it s n am e from Allan sm ith et al, w h o described th e palp ebral conju n ct ival lid form at ion s as an elevat ion w ith a cen t ral core vascu - larizat ion , u n like a follicle, w h ich is a flu id -filled cyst form at ion .

Presentation

CLPC is a ch ron ic in flam m ator y respon se isolated to th e su perior lid in relat ion to eith er m ech an ical or an t igen ic respon se, foun d m ore so w ith longer-du rat ion - w ear hydrogel len ses th an w ith gas-perm eable len ses. (With longer du rat ion w ear hydrogel len ses [con t in uous, 14 to 30 days] > exten ded [3–7 days] > flexible [1–3 days] > daily w ear [1 day] > single use or daily disposable len ses.) It is described