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Tip of the iceberg Diana Shechtman OD FAAO

TERMINOLOGY  

§  Benign  ú   Not  cancerous  

   Glioma  

ú  Growth  is  only  LOCAL    BUT  

§  Malignant  ú  RAPID  “out  of  control”  cell  proliferation  resulting  in  organ  function  damage.    They  can  spread  near  by  tissue  or  Metastasize  (infiltration  into  other  tissues/organs)     Choroidal  melanoma  

Ocular  tumors:  Can  vary  in  so  many  ways  

§  Location    ú  ONH,  retina  &  choroid  

§  Size/Shape    ú  Thickness  ú   Multi-­‐lobulated  ú   Diffused  or  localized  

§  Vascular  vs  melanin  vs  others    ú  vascular  ones  are  commonly  associated  leakage  

   exudate,  heme,  fluid  

§  Laterality    ú  Some  bilateral  may  be  associated  with  syndrome  

§  Color  (dark,  white,  red…)  

DARK/  well  delineated  borders  Flat  =  CHRPE    White  mulberry  =  astrocytoma        Large  dark  elevated  =  chroroidal  melanoma    Red  &  Diffuse  =  choroidal  hemangioma        

GENERAL  RULES  

 Red  enveloped  circular  with  a  feeding  artery  &  draining  vein  =  capillary  hemangioma    Creamy  white  mildly  elevated=  choroidal  metastases      Yellowish  plaque  (rough)  like  lesion  =  osteoma    

GENERAL  RULES  

`

Cavernous hemangioma may be associated w CH of brain Carvenous = filled w vascular sinus

Von Hippel-Lindau (VHL) disease & RCH Wyburn-Mason Syndrome & AVM (Racemose)

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Appreciating a true GRAPE like cluster of a cavernous hemangioma

Choroidal  Nevi:  BENIGN  proliferation  (neoplams)  of  choroidal  melanocytes  

§  6-­‐10%  (blue  mnt  eye  study)  prevalence  among  whites  

§  %  do  vary    §  8.64  mill  Americans  have  a  nevi  

§  No  correlation  w  (+)FHx    of  any  melanoma  §  <  3  mm  elevation  

§  Typically  FLAT  §  <  3  DD  in  size  

ú  90%  are  <2  DD;  so  if  note  ú   3-­‐5DD  it  is  questionable  

 Greenstein  et  al.  Prevalence  of  nevi.  Ophthal.  12/11.  

Incomplete Shadowing

Note the choriocapillaries absence under lesion (helps delineate borders) in this complete shadowing lesion

Shan Ophthalmology 2012

Note drusen

EDI features enhances choroidal view"

NON-EDI view of a flat nevus"

OCT  uses  in  lesions:  Nevus  or  melanomas  

Shields EDI OCT of small choroidal melanoma Arch Opth 2012 (n=37 small melanomas)

Accurate  measurements    HEIGHT    even  if  <1mm  to  follow  over  time    far  more  accessible  than  ultrasonography      

       DIMENSION    easily  follow  growth  over  time  through  

objective  measurements  

sclera"

choroidal"

lesion"

Lateral dimensions"

1500um

Controversy with the ultrasound">2-3mm thickness = melanoma!Note: OCT thickness is 50% thinner than ultrasound"

3200um

•  Increase  thickness  (100%)  •  PIL  is  describe  as  shaggy  

•  Subretinal  fluid    •  May  be  noted  in  nevus  but  far  

more  common  in  a  melanoma  

Shields EDI OCT of small choroidal melanoma Arch Opth 2012 (n=37 small melanomas)

•  RPE  atrophy  41%  •  Drusen  ~40%  

•  Thickness,  if  any  <2mm  

•  PIL  is    loss/attenuation  

•  Subretinal  fluid  only    16%  

OCT  

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FA/ICG  provides  NO  help  in  the  evaluation  of  a  nevus  

FA:  Only  observe  hyperFl  correspond  to    RPE  alternation/drusen  In  late  phase  

ICG:  due  ot  fact  that  it  can  penetrate  the  RPE  shows  hypoFL  of  the  lesion  

FA  

ICG  

Basic  nevus  management  

§  90D/BIO  §  Photos  §  Consider  OCT    

ú  Documenet  height/size    ú  check  fluid  &    morphological  changes  

§  May  document  height  w  ultrasound    ú  if  suspicious  (large  or  thicken)  

 

 Why  is  identifying  a  small  melanoma  critical?  SIZE  does  mater    1.  THE  5  yr  mortality  rate  after  enucleation:    16%  small  choroidal  melanoma,    32%  medium  &  53%  for  large    2.  1mm  increase  thickness  =  5%  increase  risk  of  metastatic    dz  (  10  yrs)    3.  Despite  direct  tx  of  the  choroidal  melanoma,  30-­‐50%  of  pts  develop  metastatic  disease     COMS  1998  

To  Find  Small  Ocular  Melanoma    

Fluid (subretinal) Increase risk of metastasis

Margins near ON (W/I 3mm)

Thickness >2mm

FAF

Symptoms    VFD,  metamorphopsia  Photopsia  &  VL  (dep  on  location)  Management  depends  on  #  of  features  noted    

No  signs:  annual  exam  “<3%  chance  of  growth”  

1-­‐2  signs:  4-­‐6M  f/u  (sooner  after  initial  Dx)  “38%  chance  of  growth”  >  3  signs:  consultation    

“50%  chance  of  growth  over  5  yrs”  

Orange pigment (lipofuscin) pathognomonic

Shields  CL,  et  al  "Choroidal  nevus  transformation  into  melanoma.  Analysis  of  

2,514  consecutive  cases"  Arch  Ophthalmol  2009;  127(8):  981-­‐87.  

UHHD  was  addedc  in  2009  “using  helpful  hints  daily”  Choroidal Melanoma: Melanoma cells undergo neoplasia w evidence of rapid growth §  ~6  (4-­‐10.9)  cases/million/yr  §  Most  common  primary  malignant  intraocular  tumor  

ú  85%  of  intra-­‐ocular  tumor  (uveal)  

§  Not  seen  in  young  pts    ú  Peak  incidence  50-­‐60    (older  pt)  

§  Highly  malignant  &  progressive  §  May  metastasize  to  other  organs  

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Choroidal Melanoma: correlation

§  White  pts  

§  UV  might  increase  the  risk  of  uveal  melanoma,  but  the  role  and  direct  correlation  of  exposure  remains  inconclusive  ú  Light  eyes,  fair  skin,  propensity  to  burn,  has  freckles  increase  risk     Degree  of  pigmentation  and  cutaneous  mole  also  appear  to  be  markers  of  risk  

   Melanomas  are  commonly  located  near  posterior  pole  

Choroidal  melanoma  §  Present  as  GREEN,  dull  gray,  dark  brown  or  even  yellow  elevated  lesions  

§  SINGLE  LESION  ú  Not  typically  MULTIPLE  

Choroidal Melanoma

§  >3  mm  elevation    ú  30%  may  be  <3mm  

§  Usually  >5mm  in  size  ú  >7-­‐8DD  in  size  (1.5mm  =1DD)  

Amelonic  is  NOT  as  typical  and  should  be  suspected  to  be  a  Choroida  metastases  

Overlying  pigment  may  also  be  variable  

but  associated  significant  hemes  is  RARE  

Are  you  worried  about  this  lesion?  

Shields  uveal  melanoma  analysis  n=  8100  

§  Melanoma  location  ú  ~20%  to  be  

   Superior,  nasal,  inferior  or  temporal  

ú  28%  are  temporal  ú  Only  4%  of  melanoma  are  near  the  macula  

The  tests  that  help  in  the  evaluation  

§ Ultrasonography  § OCT  § FA    § FAF  

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Subretinal fluid is far more common in melanoma"Best evaluated through use of OCT"

Height  measurements  ultrasound  vs  OCT  

Note  the  associated  RD  

Ultrasound  should  be  consider  in  ALL  melanomas  or  suspicious  nevus  

Specially  important  for  documenting    ANY  peripheral  lesion;  which  can’t  always  be  photo  (can  be  used  to  follow  for  progression)  

Ultrasonography:  COMMON  Presentation  

§  Thicken  elevated  mass  on  B-­‐scan  

Advantage  of  ultrasound  over  OCT  

§  Can  penetrate  through  cataract  §  Classic  characteristic  are  recognized  

ú  tumors  >  3  mm  in  thickness,  a  combination  of  A-­‐  and  B-­‐scan  can  help  Dx  choroidal  melanomas  w  >  95%  accuracy  

Classic  B-­‐scan  appearance  is  only  observed  in  20%  pf  cases  

Ultrasound:  Mushroom  w  acoustic  brightness  on  the  tip  DFE:  Dome  shape  elevation  is    only  noted  if  it  break  through  Bruch’s  membrane/RPE      

Another  classic  presenta@on:  Collar  buCon;  which  is  likely  associated  with  RD  

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Other  FEATURES  include  

Orbital  shadowing  

More classic Acoustic hollowness

FA:  limited  in  melanoma  Dx  §  The  classic  Double  Circulation  

ú  Although  may  be  consider  characteristics  ,  it  is  NOT  common     Seen  in  lesion  that  broken  through  Bruch’s     Seen  in  LARGR  TUMORS  

ú  large  caliber  intra-­‐lesion  blood  vessels  that  hyperFl  

§  There  are  a  #  of  FA  patterns,  depending  on  tumor  ú  Size  ú  Associated  pigment  ú  RPE  integrity  ú  If  tumor  rupture  through  Bruch’s  

Fundus auto Fl (FAF): LP observation

50% of melanomas show hyperFL on FAF

FA shows HYPOFl (due to blockage) associated with LP but pigmentary changes will also hypoFL and mottle look is common hyperFl on FA may corresponds to the lesion that broke through bruch’s (disruption/missing RPE) or drusen

Note far more LP observe in FAF than DFE Helps discern LP from other deposit (drusen) or pigments

What  is  the  most  common  location  of  primary  uveal  melanoma  to  metastasize?      

 §  Liver  §  Lungs  §  Bone  §  Breast  §  Brain  §  Skin  

Arch of Ophthalmol May 2001 119(5):670

median  survival  for  a  hepatic  metastasis:    15-­‐20%  at  1  year      10%  at  2  years    <1%  after  5yrs,  REGARDLESS  OF  TX  

>25%  of  patients  with  ocular  melanoma  will  develop  metastases  within  5  yrs  s/p  Dx  

Incidence  of  metastasis  increase  to  34%  at  10yr  

 

COMS:  

§  Purpose  ú  To  report  SITE  of  secondary  CA  development  ú  Determine  the  time  to  Dx  such  CA  This  is  taken  into  account  after  tx  choroidal  melanoma  

§  N  =  2320    (40-­‐60yo)  pts  with  choroidal  melanomas  were  evaluated  with  the  following  criteria  at  baseline  

   (-­‐)  melanoma  metastasis     (-­‐)  primary  cancer  at  baseline  

§  Follow  up  was  5-­‐16  yrs  

These  were  pts  with  initial  dx  choroidal  melanoma  who  were  being  evaluated  for  the  presence  of  developing  OTHER  secondary  tumors.    THESE  tumors    were  NOT  associated  METASTASES  of  the  primary  

choroidal  melanoma.      

Evaluation  took  place  while  the  pt  was  being  tx  for  choroidal  melanomas  (N=  ~2000  pts  w  choroidal  melanoma)  

f/u  5-­‐16  yrs  who  had  no  secondary  tumors  at  baseline  

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COMS:  §  RESULTS  

ú  222  developed  PRIMARY  secondary  tumors  (~10%)  ú  MOST  common  cancers  sites:  

   23%  prostate     17%  breast     12%  lung  

ú  Timeline     5  yr  rate:  7.7%     10  yr  rate:  14.9%  

Routine  medical  surveillance  for  development  of  secondary  cancers,  regardless  of  the  size  /tx  of  the  choroidal  melanoma  

is  IMPORTANT  for  a  lifetime  

SIDE  BAR  Routine  exam  finding  

 "   54yo  male  in  for  routine  exam  

"   20/20  vision  

"   h/o  skin  melanoma  &  treated  with  interferon  

WHAT  ARE  WE  LOOKING  AT?  

Interferon  induced  retinopathy  

"   Typical  onset  1-­‐5  mos  s/p  interferon  tx  

"   Often  resolves  w  d/c  Tx  

"   More  common  in    pts  with  known  HTN/DM  

"   Retinal  vasculopathies  include  hemes  &  CWS  

Choroidal  Melanoma  

l 53yo  caucasian  female  l HTN  and  hypecholest.  

l Referred  by  OD  l 20/20  OD    20/25  OS  l Suspicious  lesion  OD  l Sent  for  systemic  w/u  

 

Post  treatment  l  Systemic  workup  nega@ve  

for  metastasis  or  other  ca  l  Brachyplaque  therapy  l  Vision  to  20/50  post  tx  l  CE  and  vision  to  20/40  l  Spread/mortality  

l  Tumor  configura@on  l  Histology  

l Spindle  l Mixed  l Epithelioid  

ú  Results:       Plaque  (I125  Brachytherapy)  was  as  successful  as  enucleation  for  medium  size  melanoma,  having  equivalent  survival  rate  up  to  12yrs  s/p  tx  ­  No  significant  difference  in  mortality  rate  ­  No  significant  difference  is  presence  of  metastatic  dz;  when  compared  to  enucleation  

 

Collaborative  Ocular  Melanoma  Study  Group.  #28  Ophthalmol  2006;124:1684-­‐93  

COMS  2001  

Plaque  (I125  Brachytherapy)  is  the  #1  tx  for  medium  tumor    

>85%  retain  their  eyes  for  5yrs  or  more  

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Radiation retinopathy (RR) nonproliferative >> proliferative Risk factors for the development nonproliferative RR

There’s 40% chance of dev NPRR s/p radiation tx tumor margin closer to the fovea HIGHER radiation dose rate ( >260 centigrays/hour)

Risk factors for the development of proliferative RR àNVG

There’s a 10% chance of dev PRR s/p radiation tx DM Larger tumor (base >10 mm) PROPHYLACTIC AVT MAY SUPRESS DEVELOPMENT OF RR

Complications s/p radiation plaque tx…

•  Anterior  Segment  may  also  be  affected  by  radiation  

•  chronic  dry  eye  •  eyelid  abnormalities  •  loss  of  eyelashes  

•  latissse  •  epiphora  from  cannalicular  damage  

 

ú  Enucleation  (w/o  pre-­‐radiation  tx)    is  reserve  for  large  tumor     COMS  2001:  compared  pre  enucleation  radiation  vs  SIMPLY  just  enucleation  

­  Pre-­‐enucleation  radiation  treatment  does  not  alter  survival  rate  of  patients  with  large  melanoma  within  the  first  8  years    

Collaborative  Ocular  Melanoma  Study  Group.  #28  Ophthalmol  2006;124:1684-­‐93  

Enucleation  is  reserve  when  metastatic  disease  is  high    Near/involving  the  ON  (regardless  of  size)    

Large  tumors  Diffuse  melanoma    

Tumors  with  extraocular  extension  

When  to  enucleate?  Does  aggressive  surveillance  have  a  (+)  or  (-­‐)  

impact  of  CA  development?    (Wen  JAMA  Ophthalmology  Jan  2013)  

"   Aggressive  surveillance  for  pts  with  Hx  of  ocular  melanoma  appears  to  carry  a  HIGH  RISK  of  secondary  cancers  development      "   This  is  associated  with  radiation  exposure  "   A  10  yr  ANNUAL  f/u  with  CT  of  chest,  abdomen,  and  pelvis  was  

estimated  to  results  in  0.9%  lifetime  cancer  risk  for  men  &  1.3%  for  women  "   Younger  patients  and  women  are  at  higher  risk    

"   Risk  of  developing  secondary  cancer  is  as  HIGH  as  7.9%  for  a  young  (20  yo)  female  receiving  a  PET/CT  scan  q6M  X  10  years.  

Genetic  testing  may  help  determine  discern  high  risk  of  metastasize  and  need  for  aggressive  surveillance  

TODAY:  Genetics  and  melanoma  

§  Testing  perform  with  fine  needle  biopsy  at  time  of  surgery  or  if  enucleated  

§  Gene  expression  profile  (gene  down  regulation  grwoth)  

   Class  1  =  relative  low  metastases  (<10%)  ­  Thus  although  minimal,  there  is  still  chance  of  metastases  

   Class  2    =  very  high  metastases  (90%)  ­  This  gene  expression  also  correlates  with  larger  tumor  diameter  

Onken  MD,  Worley  LA,  Ehlers  JP,  Harbour  JW.  Gene  expression  profiling  in  uveal  melanoma  reveals  two  molecular  classes  and  predicts  metastatic  death.  Cancer  Res.  2004;64:7205-­‐7209.  

These  classifications  strongly  predicted  metastatic  death  with  a  95%  predictability  

based  survival  prediction  at  8-­‐9  yrs  months  s/p  Dx  

ONH  melanocytoma  

§  Unilateral    §  40-­‐50yo  DARKLY  pigmented  pt  

ú  F>M  §  Benign  PIGMENT  (melanocytic)  growth  (tumor)  

ú  arises  from  melanocytes  (pigment)  and  is  a  variant  of  the  melanocytic  nevus  near  or  within  the  ONH  

§  Usually  asymptomatic  BUT  associated  findings  may  include:  ú  VFD  are  commonly  noted  (increase  BS)  but  NOT  affect  VA  ú  Up  to  30%  can  have  (+)  APD  ú  Fluid/hemes    are  rare  but  can  occur  in  10%  of  cases  

1962,  Zimmerman    

Note  that  melanocytoma  is    BENEATH  vasculature  &  may  causes  elevated  like  appearance  of  ON  

Tumor  displaces  tissue  but  not  invades  it  (not  malignant)  

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Suspect  choroidal  melanoma  over  melanocytoma  if:  2nd  complications  (ONH  edema  or  signs  of  leakage  or  symptomatic)  Growth  (<10%  melanocytoma  grow  over  a  lifetime)  

The  5yr  mortality  rate  of  an  ONH  melanoma  is  75%  &  therefore,  differentiate  it  from  ON  melanocytoma  is  CRUCIAL  

Management  of  ON  melanocytoma    includes  follow  up  &  photodocument  

What’s  the  difference  in  presentations?  What’s  your  Dx?  

CHRPE…TUMORS  that  big  would  always  be  elevated  Also  note  the  lacunae  

Blackàgray

Flat Round w discrete margins

Note hypopigment ring (HALO)

CHRPE: focal area of RPE hyperplasia with more densely pack melanosomes

Lacunae: window like defect

Younger than 30 yo

Which belong to a CHRPE & which belong to nevus?

What’s this? CHRPE often show thicker RPE with associated shadowing

DDx Old toxo scar vs CHRPE

Look at symmetrical border Scalloped lacunae Halo around it Choroidal vasculature

RPE adenocarcinoma

Can  a  CHRPE  transform  to  a  malignant  tumor?  

Intra-­‐lesion  NODULE(s)  ”pedunculated,”  (elevated)àinvades  retina  

oval  shaped  May  develop  from  CHRPE  or  in  isolation    

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                         1.  FAP=  FAMILIAL  ADENOMATOUS  (glandular)  POLYPOSIS  

Numerous  intestinal  polyps  that  have  high  propensity  toward  malignancy  FAP  may  be  asymptomatic  at  1st  

 2.  Extra  colonic  manifestations  (skeleton  and  various  soft  tissue  manifestations)  

Osseous  growth,  skin  cysts,  dental  abnormalities  &  multiple  CHRPEs  (80%  of  pt  with  FAP  have  this)  

   

 

Gardner's  syndrome  has  2  part  Congenital  Grouped  Pigmentation  of  the  RPE            

(CGP-­‐RPE)  and  'pigmented  ocular  fundus  lesions  of  familial  adenomatous  polyposis'  (POFLs)  

Coleman  P.  Ophthalmic  and  Physiological  Optics  2007  Bear  track  =  group  

multiple  

Note the creamy mild elevation Because of life expectancy of pts with systemic CA has INCREASED; it’s ocular complications are more common (affecting 8% of autopsy cases)

Features displaying a “Leopard-like” appearance

Choroidal metastasis (metastatic carcinoma TO THE choroid)

Unlike primary choroidal melanoma; choroidal metastasis:

•  Not as thicken (Doesn’t assume the dome/mushroom shape)

•  Creamier & WHITE •  More often associated with shallow RD & fluid •  More likely multiple and/or bilateral

•  ~20% of presenting cases are bilateral

melanoma

metastasis

Ultrasonography of choroidal metastases § MILDLY elevated DIFFUSE choroidal

thickness § 90% of cases have a shallow RD § A scan

§ Moderate-HIGH reflectivity § Internal disorganization

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 Unlike  choroiditis;  choroidal  metastasis  is  

thicker  It  is  not    associated  with  infectious/inflammatory  disease    

Does  NOT  have  associated  inflammatory  signs    (vitritis,  periphlebitis,  exudation,  old  CRS,  etc)  

More  thicken  (elevated)  OCT  may  help…  

Choroidal  metastasis     Choroiditis    

OCT can help with DDx

Choroiditis  

Choroidal metastasis

What  is  the  most  common  PRIMARY  location  for  a  choroidal  metastases  (where  did  it  come  from)?    

    §  Liver  

§  Brain  §  Lung  §  Heart  §  Breast  

Breast for female Lung for males

6-9% of development Avg  interval  b/t  Dx  of  primary  tumor  and  uveal  metastases  is  3  -­‐  6  yrs

Of note, only >2/3 of pt with choroidal metastases have a hx of systemic CA

Other  sites  include  testis,  gastrointestinal  tract,  kidney,  thyroid,  pancreas,  and  prostate  

SIDE  BAR:  Tamoxifen  

l Tamoxifen  is  often  used  for  treatment  of  breast  cancer  l <1%  incidence  of  maculopathy  l Common  dose  20mg/d  

l Increased  40mg/d  as  needed  

l Most  tx  are  only  for  a  FEW  yrs  

A  study  by  Heier  (n=  135)  found  only  2  patients  who  developed  retinal  changes.  

Hence,  since  it  is  rare  ophthalmic  screening  NOT  required  when  low  doses  Rx  

Perifoveal  inner  retinal  refractile  deposits  (20/20):    NLF  &  inner  plexiform  

Courtesy  of  Dr.  J  Autry  

Tamoxifen toxicity

Incident  related  to  TOTAL  dose  &  hence,  pts  at  risk  for  developing  problems  =  HIGH  dosage  (>  60-­‐100mg/d)  Low  dosage  (10-­‐20mg/d)  X  long-­‐term  

OCT  complications=  CME  or  lamellar  cyst  

The decision to D/C is not associated with deposits but rather with VL or macular complications.

D/C meds associated with resolution of maculopathy but not of deposits

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Tip  of  the  iceberg  

§  Since  choroidal  metastasis  occurs  as  a  late  onset  of  the  associated  cancer  from  a  distal  organ;  it  represents  a  poor  prognostic  in  regards  to  pt’s  mortality  rate  

   Choroidal  metastases  are  noted  in  1/5  of  pts  who  die  from  the  associated  CANCER  (20%)  within  1  yr  

§  Modalities  geared  to  tx  choroidal  metastases     Systemic  Radiotherapy  (including  plaque)     Chemotherapy     Hormonal  therapy  

Re-tipping the iceberg Choroidal metastases can further metastasize elsewhere

(i.e. the brain)

Astrocytic harmatoma

l What is a Harmatoma: u  Benign malformation

resembling neoplasm, which grows @ same rate as surrounding tissue

u  Composed of elements normally found at site but which are growing is a disorganized mass

Composition Astrocytes, calcium, assorted cellular debris. Literally, a “mixed” tumor

Characteristic Patchy calcifications give it mulberry appereance

OCT

Superficial retina show a hyper-reflective granular material; sparing RPE NO associated retinal edema/CME

Intrinsic moth-eaten appearance

Systemic genetic syndromes to consider

l Although astrocytic harmatoma may present in isolation, 2 conditions can be present: u  Tuberous sclerosis (Bourneville's disease) u  Neurofibromatosis Type 1 (von Recklinghausen NF or

Peripheral NF)

Systemically associated astrocytic harmatoma presented 1st yr of life, multiple & bilateral; while acquired are

unifocal, unilateral & appear in young adults

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Choroidal osteoma

l Tumor arising from mature bone u Benign ossification of the choroid

• Choristoma (made up material that comes from elsewhere)

u Rarely progresses l Young (20-30 yo) l Females

Choroidal osteoma

l Typically asymptomatic u >80% have VA of 20/30 of better u May be associated with severe VL after 10yrs

(20/200) but those have had associated complications:

•  Subretinal fluid, CNV, PIL loss, hemorrhages

l Usually stable

Clinical presentation: Osteoma

l Orangeàyellow large lesion u  Plaque like u  mottled surface with pigmentary

changes u  Margin are scalloped u Unilateral

l Juxtapapillary u May involves ON

Osteoma’s OCT: large hyper reflective lesion under the retina.

Note inner retina is preserve

Tumor replaces normal choriocapillaris Dense hyperreflective mass with scalloped borders

FA shows mottled (patchy) hyperFl pattern with more staining later stages

l Complications (although rare) may include u CNV

•  30% of cases

Diagnostic test is ultrasound l Note the HIGH peak refection on A-scan

u calcification l Dense choroidal area with marked

shadowing on b-scan

Orbital shadowing E-scan shows reflectivity even with LOW gain

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DDx: inactive posterior uveitis i.e. sepiginous choroidopathy

CRS from posterior uveitis, trauma or WDS may be: Bilateral, more pigmentary changes & NOT ELEVATED (white represents atrophy revealing sclera…NOT white bone infiltration)

Tip of the iceberg There is no associated underlying

SYSTEMIC disease

REVIEWING the white ones thus far Presentation, age, laterality

Older pt, creamier Posterior pole

Mulberry IF young/bilateral = ?syndrome (NF/TS)

Plaque rough elevation Young female Around the ON

Re@noblastoma  presenta@on  

Leukocoria  (50-­‐60%)   Strabismus  (24  %)  

                 Iris  changing  color  (due  to  neo)  

Orbital  celluli@s  (<1%)  

poor vision 8%

Retinoblastoma ¨  Most common intraocular malignancy in

childhood (neuroblastic tumor: arising from retinoblast) ¡  Up to 350/yr are reported in the US

ú  Encompasses 30% of ALL ocular malignancy ú  Affects 1 out of 15,000 live births

¨  Mean age of Dx is 12-24 mos (~18mons) ¡  90% of cases are Dx before age 4-5 yrs

ú  2/3 of cases are Dx by age 2 ú  Rarely presents after age 6 but watch out for

RETINOMAS

White round domed-shape mass in pt <4yo

Exophytic: under retina & more likely associated w subretinal fluid & RD

Endophytic : grows toward the vitreous cavity (most common) appears globular w seeding into vitreous

GROWTH TYPE

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¨  Family history ¡  Familial = known family Hx (only 6% cases) ¡  Sporadic

ú  no known FHx ú  Most common presentation

Unilateral Most presentations

Bilateral

<30% Germline May be multiple

Laterality

¨  DNA testing ¡  Heritable (Germline mutation): (+) DNA

genetic testing ­  40% of cases ­ Often bilateral & even multiple ­ Of interest many (+)DNA germline have NO (+) FHX

¡  Non-heritable ú  Unilateral ú  Most common presentation (60% of cases)

High reflectivity noted in A-scan (calcification) B-scan shows Solid tumor the RETINA w vitreous seeds

seeding

Smooth NLF & RPE… hyperreflective solid lesion WITHIN the retina

Prompt Detection

¨  Early detection = better prognosis ¡  90% of affected children are saved by early

detection ú prompt tx of retinoblastoma decreases odds

of intracranial neuroblastic tumor ­ CNS tumor include pinealoblastoma & parasellar

region tumor ­ Dx typically made <5 yo

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Trilateral retinoblastoma

¨  Bilateral retinoblastoma + pineoblastoma ¨  The retinoblastoma that is at HIGHEST risk for

developing an intracranial tumor are. TIME TO CONSIDER BRAIN MRI

ú  Bilateral ú  Have a (+)FHx ú  &/or (+) DNA for germline

¨  The management for any of these presentations include: ¡  screened with brain MRI q6M after dx of

retinoblastoma until age 4-5

ALSO  CONSIDER  MRI  IF:  neuro  si/s:    seizures,  HA,  somnolence  in  children  (lethargic  like)  

Tumors: A review

l Look at the color l Compare the findings to the other eye l Dx test may help confirm the Dx

u Ultrasound, FA, OCT, etc l Remember that it may be the tip of the

iceberg u you are saving vision, you are saving eyes

& most important…you may be saving LIVES!