Transcript Retinal Problems not to miss photos removed for email

COS 2016: CSORN Education Symposium
Retinal Problems You Don’t Want to Miss
Bernard R. Hurley, MD, FRCSC
Financial Disclosure
I
have received speaking honoraria from
 Alcon
 Novartis
 Allergan
 Nikon
 Bayer
I
have participated in advisory boards for
 Bayer
 Novartis
 Alcon
Outline
 Vast
subject
 Series of 14 interesting cases
» Each illustrate a retinal finding with
important implications
 Common
and important
 Timely diagnosis and treatment
» Important for preserving vision
 Rare
but serious
 Timely diagnosis and treatment
» Important for preserving life

Every eye doctor’s dream
 Summary
Case #1 : A common scenario

Diagnosis with profound ophthalmic and systemic
implications
 73
year old male
 Woke
up previous morning unable to see anything
from right eye
Case #1 : A common scenario

73 year old male blind in the right eye x 48 hours
 IVFA
confirms CRAO
 NO emboli seen
Case #1: Subsequent Systems Review
 Severe
jaw pain with eating
 “Everything
I eat has to go
though a blender because I can’t
chew anything”
 Saw his dentist
» TMJ problem, night prosthesis
 Severe
bi-temporal headaches
 Saw
his G.P. and given a TENS
machine for tension headaches
» Transcutaneous electrical nerve
stimulation

Low-voltage electrical current for
pain relief
Case #1: Subsequent Systems Review
 Severe
jaw pain with eating
 Severe
bi-temporal headaches
 Shoulder
 Saw
and hip pain
his rheumatologist
» Low dose oral prednisone

Polymyalgia rheumatica
 Neck
pain, weight loss, intermittent blurred
vision O.S.
 Additional
tests ordered to confirm diagnosis
Initial Management
 Visual
loss caused by giant cell arteritis is a
medical emergency
 Prompt
 I.V.
treatment with systemic corticosteroids
high dose steroids
 First advocated as treatment
» A single case report
25 years ago
 Currently
no consensus regarding the dose,
regimen, and duration of treatment
 Chan,
C.C.K. et al. Steroid management in giant cell
arteritis. British Journal of Ophthalmology
2001;85:1061-1064
Treatment Summary
Visual Loss Clinical Suspicion
Yes
No
No
Yes
No
Corticosteroids
1 g I.V. Solumedrol
daily
High dose oral
High
(1.5-2 mg/kg/day)
Moderate dose oral
Intermediate
(1-1.5 mg/kg/day)
Moderate dose oral
Low/Intermediate
(1-1.5 mg/kg/day)
Laboratory work-up
Low/Intermediate
Biopsy
High
Adapted from M. Tariq Bhatti and Homayoun Tabandeh. Giant Cell Arteritis.
Current Opinion in Ophthalmology. December 2001;12:393-399.
Case #1 : A common scenario

Diagnosis with profound ophthalmic and systemic
implications
 GCA
A
common clinical scenario
 Often
seen on formal exams
 Keep
high index of suspicion
» Elderly patient with visual loss
 Consider
» CRAO
» AION
in cases of
Case # 2
 58
year old male
 Seen
for intermittent blurred vision OU
 Abnormal
fundus findings prompting retina consult
Ocular Signs: Cotton-Wool Spots

Very important clinical sign

98% of patients with cotton-wool spots have an associated
systemic disease
» Brown et al. Cotton Wool Spots. Retina 1985;5:206-214

Important Differential:
»
»
»
»
»
»
»
»
»
»
»
Diabetes
HTN
Branch/Central Vein Occlusion
Ocular Ischemic Syndrome
Carotid Emboli
Sickle-cell retinopathy
Radiation retinopathy
Vasculitis (especially Lupus)
Leukemia
HIV
Giant Cell Arteritis
Case # 2
 58
year old male
 Seen
for intermittent blurred vision OU
 Abnormal fundus findings prompting retina consult
 Good
VA OU
 ROS
 Jaw
pain
 Headache
 Neck stiffness
 ESR
= 107
 Biopsy
 Positive
for GCA
Cotton-Wool Spots and Giant Cell Arteritis

Cotton-wool spots in GCA initially reported in 1970

Advocated as a prominent early ophthalmologic sign


Proceeding irreversible visual loss in GCA

Melberg et al. Cotton-wool spots and the early diagnosis of
giant cell arteritis. Ophthalmology 1995; 102(11):1611-4.
“any patient older than 55 with the ophthalmoscopic
finding of one cotton-wool spot, even in the absence
of other clinical symptoms deserves specific
questions regarding constitutional symptoms”
Cases #3
 60
year old male
 Significant
cataract OD
 Removed with “perfect” surgery
 Initial
post op period
 Excellent
improvement in VA
» Over next several weeks

Significant reduction in vision
 Diagnosed
with post op CME
» Irvine-Gass syndrome
» Intensive topical steroids

No response despite good compliance
Cases #3: CNVM Masquerading as CME
 60
year old male
 Expected
to see CME
 Consider
other common diagnosis in the cataract
population
 Wet
AMD
 Worsening diabetic retinopathy
 Vascular occlusion
» Small vein or artery occlusion
Cases #4
 60
year old male
 Significant
cataract OS
 Removed with “perfect” surgery
 Initial
post op period
 Excellent
improvement in VA
» Over next several weeks
» Significant reduction in vision
 Diagnosed
with PCO
» No improvement with YAG
Cases #4
 60
year old male
 Significant
cataract OS
 Removed with “perfect” surgery
 Dilated
Fundus exam:
 Central
macular cyst
» Irvine Gass
 Started
on PF
» Q1H
 No
response
» OCT not typical
» Retina opinion

Chronic inferior RD
Case #5: Unexplained Iritis
 60
year old gentleman
 Chronic
unilaterial iritis
 Decreased vision
 Unresponsive to steroid therapy
 Unusual
 Cells
pigmented
 Elevated IOP
 Further exam
» Field defect

 Dilated
Superior
fundus exam
 Chronic
inferior RD
Case #5: Another Hidden Retinal Detachment
 RD
may present with chronic iritis
 Cells
often pigmented
 Associated with glaucoma
» Most RD associated with low IOP
 This
clinical entity well
described
 Schwartz-Matsuo
 Cells
phenomenon
may actually be
 Liberated
RPE cells
 Photoreceptor outer segments
Case #6: Case Presentation
 54
year old white female
 Sub
acute  vision OD
 POH:

none
 Medical
History, Family History, ROS:
 unremarkable
 VA:
 20/40
OD
 20/20 OS
Case #6: B Scan

Technician comments:







6.35 mm x 9.64 mm
2.52 mm height
Solid, homogenous
Low internal reflectivity
Scleral excavation
? Intrinsic pulsations
Early choroidal Melanoma
Case #7: Case Presentation
 50
year old white female
 Seen by ophthalmologist
» Referred to retina service

SBP for mac. off RD OS
 “Visual disturbance” OS
» Present for 4 months
 Driving her car
» Rubbed OD

“Could not see anything”
 Comment on referral
» Detachment so obvious,
emergency physician saw it!
Case #7: Case Presentation

50 year old white female

Seen by ophthalmologist
» Referred to retina service



SBP for mac. off RD OS
“Visual disturbance” OS x 4/12
Rubbed OD
» “Could not see anything”

POH:


Medical History:


None
Unremarkable
VA:


LP OS
20/25++ OD
Case #7
 50
year old white female
 Seen by ophthalmologist
» Referred to retina service

SBP for mac. off RD OS
 Warning
signs
 Exudative detachment
» No retinal break
» Variable vision loss
» Retinal vessels visible on slit lamp
exam
» Pigmented sub retinal mass
 Beware
mass
the elevated pigmented
Choroidal Melanoma

Color varies





B-Scan characteristics




Brown
Grey
Pale yellow (amelanotic)
Overlying clumps of orange pigment
Low internal reflectivity
Hollow
Intrinsic vessels (pulsations)
IVFA

Early mottled hyperfluorescence with progressive staining
Choroidal Melanoma
 Prognosis
5
year survival 80%
 Average survival 7 years
 Worse prognosis
»
»
»
»
Larger size
Tumor cell type (epithelioid)
Mets
Location (near nerve)
Melanoma versus Nevus
 Pneumonic
 To
Thickness
 Find
Fluid
 Small
Symptoms
 Ocular
Orange Pigment
 Melanoma Macular or optic nerve location
 No
No
 Delay
Drusen
Case #8: What about flat pigmented lesions
 Pigmented
 Usually
lesions are common
of no clinical significance
 Congenital
hypertrophy of the retinal pigment
epithelium

Flat non progressive lesion

Deeply pigmented

Small border of depigmentation

Lacunar areas of
depigmentation within lesion
Case #8: What about flat pigmented lesions
 Mulitfocal
lesions
 Often
reminiscent of a bear walking through the
fundus

Little risk of
malignant
transformation

Beware
Oblong shape
 Depigmented halo
and tail
Gardner’s syndrome

Case #8: Gardner’s syndrome
 Multifocal
fundus lesion resembling CHRPE
 Oval
 Depigmented
“tail”
 Bilaterial
 Irregular
borders
 Scattered throughout the fundus
 Gardner’s
 Familial
syndrome
cancer syndrome
» Colonic polyps
» Extraintestinal osteomas and fibromas
 Invariable
progression to colonic cancer
 Retinal lesions are virtually diagnostic
» For a patient with positive family history
Case #8: Gardner’s syndrome
 Multifocal
fundus lesion resembling CHRPE
 Oval
 Depigmented
“tail”
 Bilaterial
 Irregular
borders
 Scattered throughout the fundus
 Gardner’s
 Very
syndrome
few bear track lesions are concerning
 Patients with typical bilateral lesions
 Should be referred for colonoscopy
Case #9: Presentation

31 year old white female
 Presents
with
» Slightly decreased vision
» Mild loss of peripheral vision
» Some difficulty with night vision
Cases #9: Presentation

Examination
Vision
»OD: 20/20-3, OS: 20/30-2
SLE
»normal (no cataract or vitreous cells)
Case #9: Interesting External Findings
 Lids
 Bilaterial
ptosis
 EOM’s
 Progressive
restriction
Case #9: Additional Findings
 Muscle
biopsy (leg)
 Classic
changes of mitochondrial
myopathy
» “Ragged red” fibers on Gomori-trichrome
staining
 Diagnosis?
 Kearns-Sayre
Syndrome
Case #9: Kearns-Sayer Syndrome
 Mitochondrial
myopathy
 Distorted
mitochondria
accumulate in skeletal muscle
» EOMs, heart, RPE
 Sporadic
inheritance
» Rarely autosomal dominant
 Characteristic
findings
 Ptosis
 Progressive
external
ophthalmoplegia
 Pigmentary retinal
degeneration
» Rarely cause severe loss of VA
Case #9: Kearns-Sayer Syndrome
 Sytemic
 May
Implications
get
» Weakness of skeletal muscles
» Deafness
» Small stature
 Most
important feature
 HEART
BLOCK
» Potentially fatal
» Requires pacemakere
Case #10: More systemic implications
 Pleasant
 Saw
36 year old male
optometrist for glasses
 Referred
for retinal change
» Asymptomatic
 VA
» 20/20 OD
» 20/20 OS
 Anterior
 No
segment unremarkable
previous ocular, medical, family history
Case #10: Color
 Pleasant
 20/20
36 year old male
OU
 Asymptomatic
Case #10: Diagnosis?
 DDX
 PPCNVM
» Sub-retinal grey tissue
» Early Hyper-fluorescence
» Late leakage
 Capillary
hemangioma
» May involve disk and peripapillay retina
» Circular orange/pink/red
tumor
» Supplied by dilated
tortuous artery and drained
by engorged vein
Case #10: Systemic Work-up

Head MRI:
 No
hemangioblastoma of cerebellum
 No other abnormalities

Abdominal MRI:
 No
adrenal, renal, or pancreatic masses noted
Case #10: Diagnosis

Retinal capillary hemangioma

Secondary to Von Hipple-Lindau Disease
Case #10: Von Hippel-Lindau Disease

Inherited cancer syndrome
 Predisposing
one to developing multiple tumors
» CNS
» Retina
» Multiple other organs

Autosomal dominant

Incidence – 1:36,000 live births

Prevalence ≈ 750 patients in Canada
 Most
live in Newfoundland
Ophthalmologic Findings
Group

Retinal
Location
 most
capillary hemangioma Number
frequent and earliest manifestation of VHL
Juxtapapillary
» mean age at diagnosis - 25years
Extrapapillary
Superotemporal
 Overall
Frequency - 49-85%
Inferotemporal
Superonasal
Inferonasal by
 Supplied
Size
 Pair of dilated, tortuous vessels
0-1.5mm
 Difficult to distinguish artery form
1.6-3.0mm
3.1-4.5mm
4.6-6.0mm
Location and size distribution:
>6.0mm
17%
44%
12%
15%
12%
58%
vein
23%
6%
5%
8%
Ophthalmologic Findings
 Retinal
capillary hemangiomas
 Progressively
 Secondary
 Macular
enlarge
Effects
Star/Exudate (>25%)
 Exudative RD (16%)
 Tractional RD (9%)
 Macular Pucker (9%)
 Vitreous hemorrhage
Ophthalmologic Findings
 Probability
of VHL disease in a patient with a
solitary retinal hemangioma: 30-46%.


Median Age with VHL Disease: 17.6
Median Age in Sporadic Cases: 36.1
 Hemangiomas
in patients with VHL disease
compared to sporadic cases are clinically
indistinguishable.
Systemic Findings

Retinal changes seen
prior to lethal tumors
Surveillance Guidelines (NIH)

Dilated Fundus Exam
Annually (age 1+)

Fluorescein Angiography
Not Recommended

Urinary Catecholamines
Annually (age 2+)

MRI, Brain and Spine
Every 2 years (11-60)

Abdominal Ultrasound
Annually (age 11+)

Abdominal CT
Every 1-2 years (age 21+)
VHL Summary
 Autosomal
dominant cancer syndrome
 Predisposing
the patient to multiple tumors
 CNS, renal and adrenal most common
 Retinal
hemangiomas
 Earliest
and most common manifestation
 Diagnosis
 Systemic
is primarily made clinically
workup and lifelong surveillance required
Case #11: Unexplained Visual Loss

60 year old otherwise healthy female

4 month history of slow progressive loss of vision
» “I just can’t see right”


VA = 20/40 OU
Seen several ophthalmologists
» “Normal eye exam”

Initially felt to be malingering

Severe constriction
on visual fields


Still malingering?
Retina consult


Small ERM OD
Otherwise healthy
Case #11: Unexplained Visual Loss
 ERG
obtained
everything is good
Amplitude (20 m/div)
 Prove
 ERG
revealed
 reduced
b-wave
amplitudes
 reversed a/b ratio
Time (5 ms per division)
Diagnosis
?
Case #11: Unexplained Visual Loss
 Work-up
for chronic cough
 Massive
lesion on chest X-ray
» Diagnosed as small cell lung cancer
» Work-up revealed leason metastatic to brain
 Diagnosis?
 Carcinoma-associated
retinopathy (CAR)
Case #11: CAR
 Cancer-associated
retinopathy (CAR)
 Visual paraneoplastic disorder
» Autoantibodies against tumor antigen


Cross-react with retinal proteins
Result in photoreceptor dysfunction
 Associated
malignancy
 Small
cell lung carcinoma
 Others
» Breast, gynecologic, endocrine
 Presentation
 Severe,
progressive, bilateral loss over months
Case #12: Unexplained Visual Loss
 44
year old white male
 Sub
acute  vision OU
 POH:
 Low
myopia
 Medical
History, Family History, ROS:
 Unremarkable
 VA:
 20/80
OD
 20/80 OS
Case #12: Unexplained Visual Loss
 44
year old white male
acute  vision OU
 20/80 OU → 20/100 post CEIOL
 Sub
 Anterior
 Mild
Segment:
cataract
 Fundus:
 Normal
?
Temporal pallor
Case #12: Unexplained Visual Loss
 44
year old white male
acute  vision OU
 20/80 OU → 20/100 post CEIOL
 Normal fundus
 Sub
 OCT
 No
CME
 IVFA
 Normal
 ERG
 Cone
dystrophy
Case #12: Cone Dystrophy
 44
year old white male
acute  vision OU
 20/80 OU → 20/100 post CEIOL
 Normal fundus
 Sub
 Cone
dystrophy
 Inherited
defect
» Progressive loss of cone function
» Quite variable in onset and time course
 Macular
changes typically follow vision loss
 Fundus
may appear normal early in disease
Case #12: Unexplained Visual Loss
 Remember
cases of decreased
vision from retinal causes with
normal appearing fundus:
 Retinal
dystrophies
» Stargardt’s
» Butterfly/pattern dystrophy
 Some
others to consider
» Reperfused CRAO
» Toxic retinopathy
» Twig branch retinal vein or artery
occlusion
Case #13: Chronic Uveitis
 Patient
 66
ID
year old male
 Medical
history
 Healthy
 History
 Chronic
severe panuveitis OD >> OS
 Worsening on topical therapy
 ROS
 Weight
loss, anorexia, fatigue
Case #13: Chronic Uveitis
 Beware
the chronic posterior or
intermediate uveitis of unknown
etiology
 Inadequate
control with medications
or
 Other feature on systems review that
suggest a possible masquerade
syndrome
 Consider
an intraocular biopsy
 Diagnostic/therapeutic
vitrectomy
Case #13: Management
 23
G vitrectomy
 Minimal
trauma and worsening of
inflammation in hot eye
 Place
infusion port and confirm its
location
» Do not initiate infusion

Undiluted sample is best for
cytopathologic analysis
Technique for Biopsy

Vitreous cytology revealed

Malignant cells with vacuolated cytoplasm
and enlarged nuclei
» Possible malignant melanoma or lung
cancer
Patient died from lung CA seven months later
Case #13: Chronic Uveitis
 Beware
the chronic posterior or
intermediate uveitis of unknown
etiology
 Inadequate
control with medications
or
 Other concerning features on
systems review
 Consider
ocular biopsy to rule out
masquarade syndrome
 Intraocular
lymphoma
Case #14: A Final Interesting Case

53 year old white male

Sparkling, dazzling “rainbows” OS x
2-3/12
» Diagnosed with PVD


Referred for interesting retinal
appearance OS
POH:

Lost OD to gunshot wound
» Disagreement over a business
transaction


Multiple episodes of blunt trauma OS
VA:


NLP
20/25
OD
OS
Case #14

53 year old white male

Sparkling, dazzling “rainbows”
OS x 2-3/12
» After injecting IV drugs

POH:



ROS:


gunshot wound OD
blunt trauma OS
IV drug abuse
VA:


NLP
20/25
OD
OS
Diagnosis: Talc retinopathy
Talc
 Used
as inert material for
tablets
 Drug
abusers crush tablets
 Dissolve in water
 Inject
 Talc
particles embolize to the
retina
 Multiple
tiny, glistening particles
 Perimacular
Talc retinopathy

Talc particles embolize to the
retina


Multiple tiny, glistening particles
Peripheral
» Leads to occlusion and
neovascularization

Static retinopathy

Once the IV drug discontinued
» Martidis et al. Am. J. Ophthalmology, 1997
Other Drug Induced Retinal Crystals
 Tamoxifen
 Anti-estrogen drug
» Treatment of breast cancer
 Toxicity requires high dose
» >100 g cumulatively
» Extensive crystalline deposits
» Reversible if discovered in time
 Other
causes of crystalline retinopathy
 Canthaxanthine
» Used to stimulate tanning
 Methoxyflurane
anesthesia
Case 14: Take a good history
 53
year old white male
 Sparkling,
dazzling
“rainbows” OS x 2-3/12
» After injecting IV drugs
 History
of gunshot wound
during business transaction
» Dealing IV drugs
 Systems
review may
provide important clues
 This
case
 GCA case
 Masquade syndrome
Summary: 14 Interesting Cases

Don’t Forget GCA (Cases 1,2)


Retinal arterial occlusion
 Cotton wool spots
Systemic disease presenting in
the retina

» HTN
» Diabetes
» Important sign


Vision loss post CEIOL (Cases 3,4)

» Consider CNVM
» Chronic RD
Others
– Worsening CSME (diabetic)

Retinal detachments may be more
that they appear (Case 5,6,7)
» Swartz-Matzo
» Melanoma
Interesting
» Von-Hipple Lindau
» Gardner’s syndrome
» Kearn’s Sayer
Irvine-Gass

Common

Patient with unexplained
decreased vision

Case 11, 12, 13, 14
 Retinal dystrophies
 CAR