Ординатура / Офтальмология / Учебные материалы / Color Atlas of Ophthalmology The Quick-Reference Manual for Diagnosis and Treatment

332 Color Atlas of Ophthalm ology

Management

Man agem en t con sists of periodic obser vat ion for grow th an d su bret in al n eovascu - larizat ion . Su bret in al n eovascularizat ion m ay be t reated w ith laser.

Retinal Pigment Epithelium Tumors

Congenital Hypertrophy of the Retinal Pigment Epithelium

Congen it al hyper t rophy of th e RPE is gen erally discovered during rout in e eye screen ing an d h as an associat ion w ith fam ilial aden om atou s polyposis an d Gard - n er syn drom e (in test in al polyposis, h am ar tom a of th e skeleton , an d m u lt iple soft t issue t u m ors).

Presentation

Lesion s are gen erally seen in th e perip h er y bu t m ay occasion ally be seen n ear th e disk. Th ey occu r as rou n d, w ell-circu m scribed, pigm en ted lesion s, eith er solit ar y or m ult iple w ith flat or scalloped m argin s. Th ey h ave a m ore dist in ct border an d are darker th an th e ch oroidal n evu s. Th ere m ay be depigm en ted h alos w ith in th e lesion . Rarely, th ere are m u lt ip le pigm en ted lesion s in th e sam e area (bear-t rack lesion s) (Fig. 11.6).

Differential Diagnosis

Ch orioret in al scarring, ch oroidal m elan om a, ch oroidal n evu s, m elan ocytom as of th e ch oroids, hyp erplasia of th e RPE, posth em orrh age h em osiderin deposits

Management

Screen ing is perform ed by a gast roen terologist an d is follow ed u p by periodic ocu - lar screen ing.

Fig . 11.6 Congenital hypertrophy of the retinal pigm ent epithelium, fundus photograph of the deeply pigmented, flat, well-circum scribed retinal lesion with characteristic halo and lacunae of depigmentation.

11 Ocular Neoplasms 333

Fig . 11.7 Combined hamartoma of the retinal pigm ent epithelium and sensory retina, grayish juxtapapillary placoid mass with variable pigmentation and intrinsic vascularit y. Note the altered configuration and drag - ging of retinal vessels with partial obscuration by fibroglial tissue.

Combined Hamartoma of the Retinal Pigment Epithelium

and the Retina

Th is rare, ben ign t u m or is form ed by a h am ar tom atou s overgrow th of several con - st it uen ts su ch as th e RPE, vascu lar elem en t s, an d glial t issu e of th e ret in a to var y- ing degrees.

Presentation

Pain less visu al loss is th e m ost com m on sym ptom . Ret in al vascu lar tor t uosit y, hyperpigm en t at ion , elevat ion of th e lesion , an d an epiret in al m em bran e m ay be fou n d . Macu lar fu n ct ion m ay be affected secon dar y to t ract ion al distort ion of th e ret in a. Com bin ed h am ar tom as are m ost com m on ly located close to th e opt ic disk follow ed by th e m acu la an d occu r least com m on ly in th e periph eral ret in a. It h as been described to occur in n eu rofibrom atosis 1 (Fig. 11.7).

Differential Diagnosis

Pigm en ted fu n dus t um ors, ret in oblastom a, ch oroidal m elan om a

Management

Angiography m ay sh ow vascu lar ch anges periph eral to th e lesion referred to as “p seu doavascularit y.” Vit rectom y m ay be at tem pted in selected cases.

Retinal Tumors

Retinoblastoma

Ret in oblastom a is th e m ost com m on prim ar y ocular m align an cy of ch ildh ood, w ith an in ciden ce of 1 in 15,000 live bir th s. It is cau sed by m u tat ion in th e long arm of ch rom osom e 13q14, w h ich codes for th e RB1 gen e, a t u m or su ppressor gen e. It affects th e p recu rsor cells th at form th e in n er an d outer ret in al cells, lead - ing to th eir m align an t t ran sform at ion .

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Th e m ode of in h eritan ce m ay be h eritable (germ -lin e m ut at ion ) or n on h erit able (som at ic m ut at ion ). In h eritable m u tat ion on e allele of th e RB1 gen e is m u tated in all cells of th e body. A “secon d h it” affect s th e secon d allele, leading to m align an t t ran sform at ion . Th ese pat ien t s are predisposed to n on ocu lar t u m ors such as pin e- alom a (t rilateral ret in oblastom a), osteosarcom a, an d m align an cies of th e brain an d lung.

Presentation

In bilateral cases presen t at ion is usu ally arou n d age 1 year an d in un ilateral cases 2 years. Leu kocoria (w h ite pupillar y reflex, cat’s eye reflex) is th e com m on est sign . St rabism u s, secon dar y glaucom a, proptosis, an d in flam m at ion secon dar y to t u m or n ecrosis are oth er sign s th at can be seen . It can som et im es m im ic uveit is in ch ildren , presen t ing as a m asquerade syn drom e.

Ocu lar exam in at ion by scleral in den t at ion sh ow s a w h ite m ass w ith calcifica- t ion . It m ay be in t raret in al or an en dophyt ic t um or project ing an d seeding in to th e vit reous or m ay be exophyt ic w ith a subret in al m ass an d overlying ret in al det ach - m en t .

Histopath ology sh ow s th e ch aracterist ic Flexn er-Win terstein er roset tes, Hom er Wrigh t roset tes, an d fleu ret tes.

Management

A th orough system ic an d gen et ic evalu at ion is required . Ult rason ography an d CT assess t um or size an d calcificat ion . MRI detect s opt ic n er ve, ext raocu lar exten - sion , an d pin ealoblastom a. Prim ar y en ucleat ion is advised for un ilateral cases w ith advan ced disease an d large t um ors, longstan ding ret in al detach m en ts, n eovascu lar glau com a, or suspicion of opt ic n er ve invasion /ext rascleral exten sion . It is also u sed in bilateral cases for th e m ore advan ced eye. Treat m en t m odalit ies available in clu de ph otocoagu lat ion , ch em oth erapy, t ran sp upillar y th erm oth erapy, cr yoth erapy for sm all t um ors an d extern al-beam radioth erapy (EBRT), an d p laqu e brachyth erapy for m edium -sized t u m ors. EBRT m ay be associated w ith develop - m en t of n on ocular t u m ors in th e irradiated field . Ch em oth erapy m ay be u sed prior to oth er t reat m en t m odalit ies to decrease th e size of th e t um or or in pat ien ts w ith system ic m etast asis.

Capillary Hemangioma

Th is is a ben ign h am ar tom a of th e ret in al (or opt ic disk) vasculat ure, con sist ing of capillar y-like vessels. Th ough m ost com m on ly diagn osed in you ng adult s, it m ay p resen t in any age. Isolated lesion s are n ot associated w ith any system ic in - volvem en t , w h ereas von Hippel-Lin dau disease presen ts w ith bilateral/m u lt iple t u m ors.

Presentation

Pat ien ts can be asym ptom at ic (diagn osed on fam ily screen ing) or m ay p resen t w ith a decrease in visual acu it y. On exam in at ion it is seen as a red n odular lesion w ith tort uosit y an d dilatat ion of th e feeding ar ter y an d drain ing vein w ith or w ith ou t exudat ion , exudat ive ret in al detach m en t , rubeosis/n eovascular glaucom a, epiret in al m em bran es, t ract ion al ret in al detach m en t , an d vit reou s h em orrh age (Fig. 11.8).

11 Ocular Neoplasms 335

Fig . 11.8 (A) Retinal capillary hem - angioma: montage of fundus photographs shows a well-defined, intense, orange -red retinal lesion with prom i- nent feeder and drainage vessels:

(B) Retinal capillary hemangioma, higher magnification demonstrates intense vascularit y of the lesion. (C) Optic disc capillary hemangiom a: fiery red vascular mass located over the optic nerve head.

A

C

B

Differential Diagnosis

Coat s disease, racem ose h em angiom a, cavern ous h em angiom a, en doph th alm it is, ret in oblastom a, ast rocytom as, fam ilial exudat ive vit reoret in opathy (FEVR), sickle cell ret in opathy, p apilledem a, an d papillit is

Management

FFA reveals rapid sequen t ial filling of th e feeder arter y, h em angiom a, an d vein w ith exten sive late leakage. Leakage in to th e vit reou s m ay m ake late im ages h azy. System ic disease n eeds m u lt idiscip lin ar y care. Ocu lar diseases can be m an aged w ith ph otocoagu lat ion (<3 m m ) w ith con fluen t burn s in cluding th e feeder vessels. Cr yoth erapy, radioth erapy, an d excision are oth er m odalit ies of t reat m en t .

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Fig . 11.9 Retinal cavernous hemangioma, fundus photograph shows a grapelike cluster of blood-filled secular spaces in the inner retinal layers.

Retinal Cavernous Hemangioma

Th is ben ign h am ar tom a of th e ret in al (or opt ic disk) vascu lat u re con sists of largecaliber vessels. It is isolated bu t can be bilateral in fam ilial cases.

Presentation

Pat ien ts are u su ally asym ptom at ic or can presen t w ith a decrease in visual acu it y or floaters. Exam in at ion reveals a cluster of in t raret in al blood -filled saccu les w ith oth er w ise n orm al vasculat ure w ith or w ith ou t vit reou s h em orrh age (Fig. 11.9).

Differential Diagnosis

Coat s disease, racem ose h em angiom a, capillar y h em angiom a, en doph th alm it is, ret in oblastom a, ast rocytom as, FEVR, sickle cell ret in opathy, papilledem a, an d papillit is

Management

FFA reveals slow filling th at rem ain s hyperfluorescen t th rough ou t w ith out leakage. Treat m en t is u sually n on in ter ven t ion al an d is u sually n ot n ecessar y.

11 Ocular Neoplasms 337

Fig . 11.10 Retinal arteriovenous malformation: fundus photograph shows abnormally dilated and tortuous retinal vessels with surrounding retinal edem a, hemorrhage, and fibrous proliferation.

Arteriovenous Malformation

Congen it al ret in al ar terioven ous m alform at ion (AVM) (racem ose h em angiom a) is an an om alous ar ter y to vein an astom osis.

Presentation

AVM can presen t as a sm all, localized vascular com m u n icat ion n ear th e disk, or it can presen t as a prom in en t t angle of large, tor t u ou s blood vessels th rough out m ost of th e ret in a. It is u su ally asym ptom at ic or can presen t w ith a decrease in visu al acuit y. It can presen t as par t of Wybu rn -Mason syn drom e (Fig. 11.10).

Differential Diagnosis

Coats disease, racem ose h em angiom a, cap illar y h em angiom a, cavern ou s h em an - giom a, en doph th alm it is, ret in oblastom a, ast rocytom as, FEVR, sickle cell ret in opathy, papilledem a, an d pap illit is

Management

Th ere is n o effect ive t reat m en t , w h ereas in t racran ial AVM can be t reated by surger y, radioth erapy, an d em bolizat ion .

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Melanocytoma

Melan ocytom a is a ben ign pigm en ted t um or. Opt ic n er ve m elan ocytom a is th ough t to develop from den drit ic uveal m elan ocytes presen t in th e lam in a cribrosa.

Presentation

Tu m ors m ay grow deep in th e opt ic n er ve p aren chym a, in th e ju xt apapillar y ch o- roid, or in th e ret in al n er ve fiber layer. Th e m ost com m on posit ion is on or adjacen t to th e opt ic n er ve h ead . Th ey are gen erally sm all an d black an d m ay grow, but th ey rarely t ran sform in to a m align an cy (Fig. 11.11).

Differential Diagnosis

Ch oroidal m elan om a an d oth er pigm en ted t u m ors

Management

Th ere is n o t reat m en t at presen t to preven t or stop opt ic n er ve m elan ocytom a grow th . Regular ocular exam in at ion s are don e ever y 6 to 12 m on th s w ith dilated oph th alm oscopy an d visual-field exam in at ion s. Th e pat ien t sh ould be cou n seled regarding th e risk of vision loss an d com pression -related vasculopathy an d sh ould be m on itored for th e rare possibilit y of m align an t t ran sform at ion .

Fig . 11.11 Optic disc melanocytom a: fundus photograph shows a black lesion with irregular margins straddling the inferior aspect of the optic disk with subretinal fluid, exudates, and macular edema.

340 Color Atlas of Ophthalm ology

Presentation

In pat ien ts w ith pseu dost rabism us, th e corn eal reflex is cen tered an d sym m et ric bilaterally, an d th ere is n o m an ifest ocular deviat ion on cover t test ing. Pat ien ts w ith angle kappa h ave lateral (n egat ive angle kappa) or m edial (posit ive angle kappa) desen t rat ion of th e corn eal reflex, bu t th ere is n o m an ifest deviat ion on cover test ing.

Differential Diagnosis

Tru e h orizon t al or vert ical deviat ion , orbital an om alies, an d ret in al abn orm alit ies su ch as m acular dragging in pat ien t s w ith ret in opathy of prem at urit y

Management

Th ere is n o t reat m en t , bu t follow -u p is in dicated .

Infantile Esotropia

In fan t ile esot ropia is a convergen t m isalign m en t of th e visual axes m an ifested by age 6 m on th s (Fig. 12.2).

Presentation

Th ere is a large-angle esot ropia associated w ith crossed fixat ion , lim it at ion to abdu ct ion , laten t nyst agm us, pu rsuit asym m et r y, dissociated ver t ical deviat ion , an d in ferior oblique overact ion . Am blyopia is rare. Pat ien t s usu ally m an ifest a low degree of hyperop ia.

Fig. 12.2 Infantile esotropia.