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

9 Medical Retina 281

Presentation

Pat ien ts m ay be asym ptom at ic in ch ildh ood an d progress to a decrease in vision later in life. Fu n dus exam in at ion sh ow s a large, yellow, yolklike (vitelliform ), bilateral, sym m et rical m acu lar lesion (p seu dohypopyon ). Vision m ay be bet ter th an th e fun du s appearan ce. Th e yellow “yolk” even t ually breaks dow n , leaving a m ot tled geograp h ical at rophy an d scarring (scram bled egg appearan ce).Vision deteriorates in th is stage. Ch oroidal n ew vessels m ay be presen t .

Differential Diagnosis

The late scar stage is difficult to distinguish from m acular dystrophy or degeneration.

Management

Th e EOG is dim in ish ed, w h ereas th e ERG is n orm al. Th ere is n o kn ow n t reat m en t . Cases sh ould be follow ed w ith an Am sler grid for early detect ion of CNV.

Pattern Dystrophy

Th is is an au tosom al dom in an t dyst rop hy of th e RPE du e to m u t at ion in th e periph erin gen e, w h ich presen t s in m idlife.

Presentation

Visual acu it y m ay be n orm al or m ildly decreased (~20/30), w ith n orm al color vision an d m ild m etam orph opsia. Oth er presen t ing sym ptom s in clude sym m et ric bilateral hyperpigm en t at ion of th e RPE in th e m acula, but terfly dyst rophy, an d adult-on set foveom acu lar vitelliform dyst rophy.

Differential Diagnosis

Drug-induced degenerations, angioid streaks, rubella retinopathy, myotonic dystrophy

Management

Th e progn osis is good . EOG is subn orm al. Fluorescein angiography sh ow s a blocking pat tern of th e RPE hyperpigm en t at ion . CNV an d geograph ical m acular at rophy are th e com plicat ion s. No t reat m en t is kn ow n .

Cone Dystrophies

Goodm an et al classified variou s con e dyst roph ies in to seven con e dysfun ct ion syn drom es. Sporadic cases are m ost com m on am ong th e various pat tern s of in - h eritan ce seen in con e dyst roph ies. Au tosom al dom in an t is th e m ost com m on ly establish ed pat tern an d carries a ver y grave progn osis. Th e con dit ion m ay also presen t as autosom al recessive an d be X-lin ked .

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Presentation

Th e sym ptom s are exactly th e reverse of RP an d appear gen erally in th e th ird decade. Th e pat ien t m ost com m on ly presen t s w ith loss of vision an d ph otoph obia. Th e pat ien t sees bet ter in even ing h ou rs an d prefers to w ear dark glasses. Color vision is a problem begin n ing in th e early stages of th e con dit ion . Nyst agm us can be seen in th e advan ced stage. Th e early stage of th e disease is m arked by a n orm al fun du s or a gran ular appearan ce of th e m acu la. Late st ages classically resem ble a bull’s-eye m acu lopathy. Few sign s m ay be congru en t w ith RP, th at is, th e presen ce of bony spicules in th e m idperiph er y, vascular at ten u at ion , an d tem poral disk pallor. A t apet al-like sh een is n oted arou n d th e parafoveal region in a colored ph otograp h . Advan ced disease is ch aracterized by th e t ypical presen ce of RPE at rophy, w h ich later develops in to a geograph ical at rophy.

Differential Diagnosis

Drug-in du ced ret in opathy, angioid st reaks, ru bella ret in opathy, an d m yoton ic ret i- n opathy

Management

FFA fin dings dep en d on th e stage of th e disease an d it s severit y. A t ran sm ission defect involving fovea is an oth er presen t at ion sim ilar to bull’s-eye m aculop athy. Fun du s fin dings m ay also m im ic th ose of Stargardt disease or FF in th e advan ced stages of th e disease. Ph otop ic respon se is subn orm al or alm ost un recordable. Severe deuteron –t rit an defects are n oted . EOG an d dark adapt at ion are n ot reliable. Progn osis depen ds on th e exten t of rod involvem en t an d m ode of in h eritan ce. No t reat m en t is kn ow n .

Idiopathic Parafoveal Telangiectasia

In idiopath ic parafoveal telangiect asia th ere is clin ically apparen t ret in al telangiectasia an d ectasia of th e capillar y bed, con fin ed to th e ju xtafoveal region of on e or both eyes. Th is m ay result in visu al loss from capillar y in com peten ce an d exu da- t ion . Histopath ologic eviden ce sh ow s th is is n ot a t ru e telangiectasia bu t rath er con sists of st ru ct u ral abn orm alit ies sim ilar to diabet ic m icroangiopathy, w ith deposits of excess basem en t m em bran e w ith in th e ret in al capillaries (Fig. 9.13A,B).

Presentation

On set is usu ally in th e fifth to sixth decade. Pat ien ts presen t w ith m ild blurring of cen t ral visu al acu it y.

Group I: Un ilateral, congen ital parafoveal telangiectasia w ith vascu lar abn or- m alit ies localized to th e tem poral h alf of th e m acula, leading to circin ate exu - dates

Group II: Bilateral acquired idiopath ic telangiect asia

Group III: Bilateral idiop ath ic parafoveal telangiectasia w ith ret in al capillar y obliterat ion On FFA, leakage is seen from th e telangiect at ic vessels.

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Fig . 9.13 (A) Parafoveal telangiectasia leakage—color fundus photo.

(B) Parafoveal telangiectasia—fun- dus fluorescein angiography donutshaped leakage.

A

B

Differential Diagnosis

Diabet ic m acu lar edem a, m acular edem a from oth er cau ses, CNV

Management

Gen erally, on ly obser vat ion is required . Laser ph otocoagu lat ion an d in t ravit real bevacizu m ab/ran ibizu m ab h ave been t ried .

Sickle Cell Retinopathy

Th is h ereditar y, gen et ically determ in ed, h em olyt ic an em ia occu rs alm ost exclu - sively in blacks. HbSS (i.e., sickle cell disease) occu rs exclu sively in m ales.

Presentation

Oph th alm ic m an ifest at ion s in clude in t ravascular occlusion s on th e surface of th e opt ic disk; ret in al ar ter y occlusion s; ch ron ic m acu lar ch anges (sickling m acu lopathy); ch oroidal vascular occlusion s; n onproliferat ive sickle ret in opathy in cluding ven ous tor t u osit y, salm on -patch h em orrh age, sch isis cavit y, an d th e black su n - burst an d proliferat ive sickle ret in opathy w ith periph eral ar teriolar occlusion s; ar teriolar-ven ular an astom osis; n eovascular proliferat ion ; vit reou s h em orrh age; an d ret in al det ach m en t .

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Management

Diath erm y, cr yoth erapy, xen on arc ph otocoagu lat ion , an d argon laser ph otocoagulat ion can be t ried to t reat th e proliferat ive sickle ret in opathy. Vit rectom y is in dicated in con dit ion s such as n on resolving vit reou s h em orrh age an d t ract ion or com bin ed ret in al detach m en ts.

Retinitis Pigmentosa

RP is a h ereditar y diffu se pigm en t ar y ret in al dyst rophy ch aracterized by th e absen ce of in flam m at ion , progressive field losses, an d abn orm al ERG. RP involves ph otoreceptors, m ain ly th e rods. Sporadic cases are by far th e m ost com m on (Fig. 9.14A,B).

Presentation

Presen tat ion is alw ays bilateral. Pat ien t s presen t m ain ly w ith nyctalop ia an d a gradu al an d progressive loss of visual fields. Loss of cen t ral vision an d m et am orph opsia are an in dicat ion of associated m acu lar involvem en t . A few pat ien t s also experien ce episodic ligh t flash es. Th e classical t riad to diagn ose RP is arteriolar at ten uat ion , bony spicule–like pigm en t at ion , an d w axy pallor of th e opt ic disk.

A

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RP can presen t at ypically as sector RP, pericen t ral RP, an d RP w ith exu dat ive vasculopathy. RP is associated w ith posterior su bcapsu lar cataract , op en -angle glau - com a, m yop ia, keratocon u s, posterior vit reous det ach m en t , an d opt ic n er ve h ead dru sen . System ic associat ion s of RP are as Bassen -Korn zw eig syn drom e, Refsum disease, Ush er syn drom e, Kearn s-Sayre syn drom e, an d Bardet-Biedl syn drom e.

Differential Diagnosis

Ch oroidal dyst roph ies, vit am in A deficien cy, congen ital st at ion ar y n igh t blin dn ess, ph en oth iazin e toxicit y, syp h ilis, congen it al ru bella, exu dat ive ret in al detach m en t , m yoton ic dyst rophy.

Management

FFA in dicates th e associated ch oroidal sclerosis an d in dicates th e progn osis. A defect ive dark adapt at ion , EOG, an d scotopic respon se on ERG are seen . Color vision is n orm al an d perim et r y sh ow s circu m feren t ial progressive field loss. Gen eral oph - th alm ic care (i.e., refract ive stat us of p at ien t) sh ould be given . Associat ion s su ch as cataract , glaucom a m acular edem a, an d epiret in al m em bran es sh ou ld be m an aged on respect ive lin es. Psych ological cou n seling, gen et ic cou n seling, low vision aid, an d vit am in an d n ut rit ion al supp lem en tat ion play im por tan t roles. Recen tly, ret i- n al ch ip device, stem cells, an d gen e th erapy h ave been t ried .

Choroideremia

Ch oroiderem ia is a grou p of X-lin ked recessive disorders in w h ich th ere is a m ut a- t ion in th e long arm of ch rom osom e X (Xq-21.2; CHM). Th is focu s involves m u ta- t ion of th e CHM gen e, w h ich en codes for a protein geranylgeranyl t ran sferase Rab escor t .

Presentation

Th e feat ures of th e disease are n igh t blin dn ess, con st rict ion of visual field, an d ring scotom a, w ith severe visual loss occurring at later stages of life. Th e fu n du s sh ow s patch es of ch oroidal an d ret in al pigm en t ar y at rophy. Th e involvem en t is at th e level of ch oriocapillaries w ith involvem en t of large an d in term ediate ch oroidal vessels in th e late stages w h en th ere is a clear visibilit y of sclera. A subn orm al EOG an d severely abn orm al ph otopic ERG are ch aracterist ic fin dings.

Differential Diagnosis

RP, gyrate at rophy, albin ism

Management

Th e ch oroidal ph ase of th e FFA is ch aracterized by clear visualizat ion of th e filling of m ediu m - an d large-caliber ch oroidal vessels. Th is pict u re presen ts du e to com - plete absen ce of th e RPE an d an associated absen ce of ch oriocapillaries un der it . Th ere is n o kn ow n t reat m en t . Gen et ic cou n seling h elps.

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Gyrate Atrophy

Th is is an au tosom al recessive disorder w ith involvem en t of ch rom osom e 10 an d involves th e m ut at ion of gen e coding for th e en zym e orn ith in e ketoacid am in o- t ran sferase, w h ich is required for orn ith in e degradat ion . Th ere are elevated levels of orn ith in e in th e body flu ids (i.e., plasm a, urin e, cerebrospin al flu id, an d aqu eou s h um or).

Presentation

Th e m ain clin ical fin dings are n igh t blin dn ess associated w ith axial m yopia an d ast igm at ism . Fun du s exam in at ion sh ow s lobular ch orioret in al degen erat ion in th e region beh in d th e equ ator w ith vit reou s degen erat ion . Th ese later progress to geograph ic at rophy w ith foveal involvem en t . In advan ced stage of th e disease, th e lesion s convalesce to form w ider defects an d exten d in both an terior an d posterior direct ion s. Flat ERG in th e later stages w ith su bn orm al EOG is seen .

Differential Diagnosis

Paving-ston e degen erat ion , ch oroiderem ia, h igh m yop e

Management

FFA in early st age of th e disease is ch aracterized by sh arply dem arcated m u lt iple, circular w in dow defects, separated by st rip s of n orm al ret in a involving th e m id - periph er y. Th e late ph ase is ch aracterized by fading flu orescen ce of th e ch oroidal vessels an d m ild st ain ing of th e n orm al ret in a form ing th e m argin of th e lesion s. Treat m en t involves redu ct ion of orn ith in e in th e diet w ith vit am in B6 in h igh doses. First sym ptom s are seen in th e first or secon d decade. Visual acu it y becom es ver y p oor by th e sixth decade of life w ith involvem en t of th e m acula.

Radiation Retinopathy

Irradiat ion to th e h ead in a tot al dose exceeding 3000 rads m ay lead to radiat ion ret in opathy. It m ay follow plaqu e th erapy, brachyth erapy, or extern al-beam irradiat ion . Pat ien t s w ith preexist ing com p rom ised vascu lat u re such as th ose w ith diabetes, hyper ten sion , or collagen vascu lar disease m ay develop it at even low doses of radiat ion .

Presentation

Pat ien ts m ay be asym ptom at ic or h ave visu al loss delayed 6 m on th s to a year after th erapy. Discrete foci of occluded capillaries; irregular dilatat ion of n eigh boring m icrovascu lat u re an d vascular sh eath ing are seen at th e posterior fu n du s along w ith cot ton -w ool spot s, m icroan eu r ysm s, n eovascularizat ion , exudates, an d m acular edem a. Disk edem a m ay also be seen .

Differential Diagnosis

Diabet ic ret in opathy, hyper ten sive ret in opathy, Eales disease, Coats disease, sickle cell ret in opathy

9 Medical Retina 287

Management

Macu lar edem a an d n eovascu larizat ion m ay be t reated w ith laser ph otocoagula- t ion . System ic steroids are given for p apillopathy.

Solar Retinopathy

Foveom acu lar ret in it is, eclipse ret in opathy, solar ret in it is, follow ing direct/in - direct view ing of th e solar eclip se. Secon dar y to RPE dam age cau sed by sh orter w avelength s of u lt raviolet-A ligh t .

Presentation

Sym ptom s appear after 1 to 4 h ours of su ngazing an d in clude un ilateral or bilateral decrease in visu al acu it y, m etam orph op sia, cen t ral/paracen t ral scotom a, an d after-im age. Yellow -w h ite foveolar lesion s th at are replaced w ith a red foveolar depression are seen su rrou n ded by a pigm en ted h alo. Vision im proves in 3 to 6 m on th s (usu ally to > 20/40), but m etam orph opsia an d scotom a m ay rem ain .

Differential Diagnosis

Blun t ocu lar t rau m a, RP

Management

Th ere is n o t reat m en t . Th e p at ien t is follow ed u p .

10 Surgical Retina 289

Management

Th orough oph th alm oscopic exam in at ion is requ ired . Man agem en t con sist s of obser vat ion on ly.

Meridional Folds, Complexes, and Other Peripheral Lesions

A m eridion al fold is a redu n dan cy of th e periph eral ret in a at th e border of th e ora serrata. It is m ost com m on ly foun d in th e supran asal qu adran t an d is bilateral for 55%of th e cases. Its length can be variable. It h as been est im ated th at 26%of th e popu lat ion h as m eridion al folds.

W h en a m eridion al fold is con t igu ou s w ith a den t ate process, it is called a m e- ridion al com p lex. A m eridion al com plex can exten d to th e pars plan a (Fig. 10.1A).

An en closed oral bay (EOB) is a sm all islan d of n onpigm en ted ciliar y body ep i- th elium th at h as becom e isolated an d surroun ded by n eurosen sor y ret in a. Clin i- cally, it m ay resem ble a ret in al break (Fig. 10.1B).

Presentation

Both th e m eridion al folds an d th e EOB are in ciden tal fin dings in n orm al eyes an d are u su ally n ot associated w ith any sym ptom s. Th e locat ion of m eridion al folds m ay aid th eir diagn osis. Th ey are alw ays close to th e ora serrata. Th ey are alm ost n ever associated w ith ret in al breaks.

Differential Diagnosis

A ret in al break is a differen t ial diagn osis for EOB. Scleral in den tat ion sh ow s grad - ually slop ing edges un like th e sh arp an d abru pt ch ange in ret in al breaks. Also th e color in th e oral bay correspon ds to th e adjacen t pars plan a.

Management

Careful oph th alm oscopy w ill differen t iate EOB from t ru e ret in al breaks. Th e color w ith in th e EOB is th e sam e as th e pars plan a. A m eridion al fold is frequ en tly located in th e sam e m eridian as an EOB. Un like ret in al breaks, th ese lesion s do n ot progress rapidly over t im e. Th ere is n o role for prophylact ic t reat m en t .

A B

Fig. 10.1 (A) Meridional fold complex. (B) Enclosed oral bay.

290 Color Atlas of Ophthalm ology

Pars Plana Cyst

Pars p lan a cyst s are convex, cystoid lesion s fou n d an terior to th e ora serrat a. Th ey are often adjacen t to oral bays an d can be m ult iple. Th e exact et iology is u n kn ow n , but th ey are probably th e result of a degen erat ive p rocess. Microscopically th ey represen t a separat ion of th e n onpigm en ted from th e pigm en ted epith elial cell layers of th e pars plan a.

Presentation

Pars plan a cysts are asym ptom at ic. An au topsy series fou n d th eir presen ce in 16 to 18%of cases. Th ey are m ore frequen tly fou n d on th e tem poral side. Th ere is n o associat ion w ith oth er eye diseases.

Differential diagnosis

Non e

Management

Th orough op h t h alm oscop ic exam in at ion reveals t h e cyst . No t reat m en t is in d i- cated .

Pars Plana Pearls

Pars plan a pearls are st riking, glisten ing w h ite lesion s fou n d in th e far an terior ret in al periph er y. Th ey are alw ays ben eath a den tate process an d represen t dr u - sen -like deposit s on th e in n er surface of th e Bru ch m em bran e.

Presentation

Pars plan a pearls ser ve as good lan dm arks in th e far periph eral ret in a. Th ey are alw ays located ben eath a den tate process. Th ey are drusen -like st ru ct u res on th e Bruch m em bran e.

Differential Diagnosis

Oth er periph eral ret in al degen erat ion s

Management

Pars plan a pearls h ave been fou n d in 20%of au topsy subject s an d appear in all age groups. Th ere are n o kn ow n associat ion s w ith oth er eye path ologies. Th orough oph th alm oscopic exam in at ion is requ ired . No t reat m en t is in dicated .

Pavingstone Degeneration

Also com m on ly term ed cobblestone degenerat ion , th ese are discrete foci of ou ter ret in al at rophy th at st art at th e ora an d progress posteriorly. It h as been est im ated th at th ese lesion s occur as early as age 8. Histologically th ey are ch aracterized by loss of rods, ret in al pigm en t epith elium (RPE), an d th e un derlying ch oriocapillaris (Fig. 10.2).