Mystery Retina 2015:

Interactive Discussion of Challenging Cases

William F Mieler, MD
Chicago, IL
Lee M Jampol, MD
Chicago, IL
Jerry A Shields, MD
Philadelphia, PA
K Bailey Freund, MD
New York, NY
David Sarraf, MD
Los Angeles, CA
Carol L Shields, MD
Philadelphia, PA

AAO Instruction Course

Las Vegas, NV

Case TR
William F Mieler, MD, Chicago, IL
This 55 year old female was in excellent health, though abruptly and painlessly lost
vision OS over a two day time frame. A very thorough systemic evaluation was entirely
within normal limits. Systemic laboratory evaluation included FTA, VZV, CMV, herpes
viruses, ANA, HLA, Quantiferon, ACE, and lysozyme all were normal. She was started
on systemic valicyclovir and corticosteroids. Vision never recovered, and the retina
detached within two weeks. Vitrectomy surgery was undertaken and PCR testing was
positive for Herpes type 2. The patient has not recovered visual function beyond HM
OS, yet the right eye remains normal.
Diagnosis

References
Blumenkranz MS, Kaplan HJ, Clarkson JG, Culbertson WW, Williams GA, Kleiner RC,
Meissner RH: Acute multifocal hemorrhagic retinal vasculitis. Ophthalmol
1988;95:1663-72
Jalali S, Kolari RS, Pathengay A, Athmanathan S. Severe hemorrhagic retinopathy as
initial manifestation of acute retinal necrosis caused by herpes simplex virus. Indian J
Ophthalmol 2007;55:308-10

Bronner G, Shah S, Bhagat N, Zarbin M: Acute idiopathic hemorrhagic retinal vasculitis

with transietn profound visual loss. Retin Cases Brief Rep 2008:2:178-80
Amaro MH, Roller AB, Motta CT, Motta MM: Long term follow-up of acute multifocal
hemorrhagic retinal vasculitis (Blumenkranz Syndrome) Arg Bras Ofthalmol. 2011;
74:368-70
Wong RW, Jumper JM, McDonald HR, Johnson RN, Fu A, Lujan BJ, Cunningham ET
Jr: Emerging concepts in the management of acute retinal necrosis. Br J Ophthalmol
2013;97:545-552

Case AH
William F Mieler, MD, Chicago, IL
A 65 year old male was referred for evaluation of multiple intraocular tumors OD.
Previous vitrectomy surgery OS had not been successful. VA was 20/20 OD, and LP
OS. The patient underwent additional PPV surgery OS, which reattached the retina,
and documented similar lesions the left eye. A limited systemic evaluation revealed low
magnesium and phosphorus levels, along with moderately elevated creatinine levels.
There was no evidence of parathyroid adenoma.
Diagnosis
Idiopathic sclerochoroidal calcification (r/o Gittelman syndrome)

References
4

Jones AC et al. Diseases associated with calcium pyrophosphate deposition disease.

Semin Arthritis Rheum 1992; 22:188-202
Cohen SY, Guyot-Sionnest M, Puech M. Choroidal neovascularization as a late
complication of hyperparathyroidism. Am J Ophthalmol 1998;126: 320-2.
Lindstedt EW, van den Born LI, Veckeneer M, Baarsma GS. Sclerochoroidal
calcification: idiopathic or associated with systemic disease? Retina Cases Brief
Reports 2007;1:141-4.
Gupta R, Hu V, Reynolds T, Harrison R. Sclerochoroidal calficiation associated with
Gitelman syndrome and calcium pyrophosphate dihydrate deposition. J Clin Pathol
2005;58:1334-5.
Sun H, Demirci H, Shields CL, Shields JA. Sclerochoroidal calcification in a patient with
classic Bartters syndrome. Am J Ophthalmol 2005;139:365-6.
Shields CL, Hasanreisoglu M, Saktanasate J, Seibel I, Shields JA. Sclerochoroidal
calcification: clinical features, outcomes, and relationship with hypercalcemia and
parathyroid adenoma in 179 eyes. Retina 2015;35:547-54

Case KF
William F Mieler, MD, Chicago, IL
This 41 year old female presented with a history of papillary thyroid carcinoma, having
undergone thyroidectomy surgery 18 months earlier, along with I-131 treatment. She
was felt to be free to disease. However, a pulmonary lesion was noted and a FNAB
yielded evidence of a schwannona, which was observed. Then the patient developed
an enlarged blind spot OS, and was referred for assessment.
On ocular examination, the VA was 20/20 OD and 20/70 OS. A chorioretinal mass
lesion was noted along the superotemporal arcade OS, with overlying hemorrhage.
Over concern of a possible thyroid metastatic lesion, a FNAB was performed. The
biopsy only showed chronic inflammatory cells, without evidence of thyroid metastases
or other abnormalities. Observation over the past twelve months has led to virtually
complete resolution of the lesion with return of VA to 20/25 OS. The patient remains
free of metastatic disease
Diagnosis
Chorioretinal mass lesion OS-rule out metastatic thyroid carcinoma OS
Probable chronic macular neuroretinitis

References
Besic N and Luznik Z: Choroidal and orbital metastases from thyroid cancer. Thyroid
2013;23:543-51.
Shields CL, Shields JA, Gross NA, et al. Survey of 520 eyes with uveal metastasis.
Ophthalmol 1997;104:1265-76.

Case CA
William F Mieler, MD
This 57 year old male underwent repair of a macula-on retinal detachment via a
SB/PPV approach two weeks ago. Preoperative VA was 20/25 OD, though now was
20/200 OD. There was no persistent RD, nor evidence of PVR. What was seen on
clinical examination were vertically oriented retinal folds involving the macula. The
patient underwent surgery which included temporary re-detachment of the retina via a
39 gauge needle, inserting fluid under the macula. Final VA was 20/25 OD two months
later
Diagnosis
Macular folds following a SBP/PPV surgery

References
Hayashi A, Usui S, Kawaguchi K, Fujioka S, Kusaka S, Fujikado T, Ohji M, Tano Y:
Retinal changes after retinal transplantation surgery with scleral imbrication in dog eyes.
Invest Ophthalmol Vis Sci 2000;41;4288-92.
Repair of macular fold following retinal reattachment surgery. El-Amir AN, Every S,
Patel CK: Clinical Exp Ophthalmol 2007;35;791-2.
Ruiz-Moreno J, Montero J: Sliding macular fold following retinal detachment surgery.
Graefes Archives of Clinical and Experimental Ophthalmol 2010.
1.

Herbert EN, Groenewald C, Wong D: Treatment of retinal folds using a modified

macula relocation technique with perfluoro-hexyloctane tamponade. Br J Ophthalmol
2003;87:921-2
Witkin A, Hsu J: Surgical repair of macular fold after vitrectomy for bullous
rhegmatogenous retinal detachment. Retina 2012;32:1666-9
Gruener A, et al: Correspondence to the Editor. Retina 2013;33;894-7.

CASE 1

David Sarraf, MD, Los Angeles, CA

49 year old white male, decreased VA OD x 7 months, with subtle inferonasal scotoma
Past Medical History: Diabetes

Diagnosis:
Astrocytic hamartoma

OCT CRITERIA
TYPE 1: FLAT AND WITHIN THE
NERVE FIBER LAYER
TYPE 2: SLIGHT ELEVATION WITH
RETINAL TRACTION
TYPE 3: MOTH-EATEN AREAS
DUE TO CALCIFICATION
TYPE 4: OPTICALLY EMPTY
INTRA- LESIONAL CAVITIES

References
1. Shields JA, Shields CL. Glial tumors of the retina. The 2009 King Khaled Memorial
Lecture. Saudi J Ophthalmol. 2009;23:197-201.
2. Serafino M, Pichi F, Giuliari GP, Shields CL, Ciardella AP, Nucci P. Retinal
astrocytic hamartoma: Spectral-domain optical coherence tomography classification
and correlation with tuberous sclerosis complex. Journal of American Association for
Pediatric Ophthalmology and Strabismus JAAPOS17(1):e27.
3. Goel N, Pangtey B, Bhushan G, Raina UK, Ghosh B. Spectral-domain optical
coherence tomography of astrocytic hamartomas in tuberous sclerosis. Int Ophthalmol.
9

2012;32:491-3.
4. Shields JA, Bianciotto CG, Kivela T, Shields CL. Presumed solitary circumscribed
retinal astrocytic proliferation: the 2010 Jonathan W. Wirtschafter Lecture. Arch
Ophthalmol. 2011;129:1189-94

10

Case 2
David Sarraf, MD, Los Angeles, CA (courtesy Michael Klufas, MD)
30 YO HF DECREASED VA X MONTHS OU HA, PARESTHESIA
PAST MEDICAL HISTORY: NEGATIVE

PAST SOCIAL HISTORY: NEGATIVE

MRA: NARROWING MCA, COLLATERALIZN AND TORTUOSITY OF BRANCH VESSELS

VASCULAR TORTUOSITY LEFT ANTER INFER CEREBELLAR, POSTERIOR CEREBRAL ARTERIES

NO FLOW IN RIGHT VERTEBRAL ARTERY MRI: T2/FLAIR HYPERINTENSITY IN CENTRUM
SEMIOVALE, CORONA RADIATA CW
CHRONIC, ISCHEMIC
MICROANGIOPATHY DUE TO
PROXIMAL INTRACRANIAL ARTERIAL
STENOSIS
DIAGNOSIS: MOYA MOYA SYNDROME
IDIOPATHIC CEREBROVASCULAR
SYNDROME NF 1,
NEUROFIBROMIN VASCULAR
SMOOTH MUSCLE, ENDOTHELIUM
ABNORMAL PROLIFERATION,
DEVELOPMENT
OUR PATIENT: NF 1 NEGATIVE

References
1. Scott RM and ER Smith. Moyamoya disease and moyamoya syndrome. N Engl J
Med, 2009;360:1226-37.
11

2. Williams M et al. Moyamoya disease presenting to the ophthalmology clinic. Can J

Ophthalmol, 2006;41:633-4.
3. Witmer MT et al. Ophthalmic artery ischemic syndrome associated with
neurofibromatosis and moyamoya syndrome. JAMA Ophthalmol, 2013;131:38-9.
4. Kumar MA and BA Ganesh. CRAO in Moyamoya Disease. J Clin Diagn Res, 2013. :
p. 545-

12

CASE 3

David Sarraf, MD, Los Angeles, CA (Courtesy Azadeh Khatibi, MD)

36 year old white female with decreased VA OU x 2 days. Fever, AGUE, SOB.

Diagnosis

PMMA Injections into gluteus maxiums muscles (Brazilian Booty)

References
1. RAHIMY

E ET AL. PAMM: WHAT WE KNEW THEN AND WHAT WE KNOW NOW.

RETINA 2015
2. CHEN X ET AL. SPECTRUM OF RETINAL VASCULAR DISEASES ASSOCIATED WITH
PAMM. AJO 2015

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Case 4
David Sarraf, MD, Los Angeles, CA (courtesy Michael Larsen, MD)
65 year old white female, decreased VA OU for 1 to 2 years

Diagnosis
Outer retinal corrugations (or ghost drusen) associated with geographic atrophy and
atrophic age-related macular degeneration (AMD)
References

14

15

Case #1
K. Bailey Freund, MD, New York, NY

Case History: A 39-year-old Caucasian female presented with a one-day history of a

paracentral scotoma in her left eye. Her past ocular history was significant for a
refractive error of -7.75 diopters and -9.50 diopters in her right and left eye,
respectively. She had no significant medical problems.
Clinical examination: Visual acuity with correction was 20/20 in both eyes. The slitlamp examination was unremarkable. The ophthalmoscopic examination revealed a
discrete area of elevation with accompanying hemorrhage in the inferotemporal macula
of her left eye. The hemorrhage was hypoautofluorescent with a central area of
hyperautofluorescence. Enhanced depth imaging (EDI)-OCT demonstrated an area of
focal choroidal excavation with apparent type 2 neovascularization. The subfoveal
choroidal thickness was 336 m and 354 m in the right and left eye, respectively, while
the choroidal thickness nasal to the lesion was 419 m. The choroid under the
excavation was reduced in thickness, measuring 194 m. ICGA showed focal areas of
choroidal hyperpermeability in the right eye. In the left eye, large choroidal vessels
(pachyvessels) are seen on either side of the lesion corresponding to the dilated
appearing vessels seen on EDI-OCT. Depth-resolved en face OCTA showed a focus
of increased flow at the site of the lesion.
Diagnosis
Type 2 neovascularization secondary to focal choroidal excavation

420

194

16

References
1.
Margolis R, Mukkamala SK, Jampol LM, et al. The expanded spectrum of focal
choroidal excavation. Arch Ophthalmol. 2011;129(10):1320-5.
2.
Jampol LM, Shankle J, Schroeder R, et al. Diagnostic and therapeutic
challenges. Retina. 2006;26(9):1072-6.
3.
Lee JH, Lee WK. Choroidal neovascularization associated with focal choroidal
excavation. Am J Ophthalmol. 2014;157(3):710-8 e1.
4.
Obata R, Takahashi H, Ueta T, et al. Tomographic and angiographic
characteristics of eyes with macular focal choroidal excavation. Retina.
2013;33(6):1201-10.
5.
Kim H, Woo SJ, Kim YK, et al. Focal Choroidal Excavation in Multifocal
Choroiditis and Punctate Inner Choroidopathy. Ophthalmology. 2015;122(7):1534-5
6.
Kobayashi W, Abe T, Tamai H, Nakazawa T. Choroidal excavation with
polypoidal choroidal vasculopathy: a case report. Clin Ophthalmol. 2012;6:1373-6.
7.
Warrow DJ, Hoang QV, Freund KB. Pachychoroid pigment epitheliopathy.
Retina. 2013;33(8):1659-72.
8.
Pang CE, Freund KB. Pachychoroid neovasculopathy. Retina. 2015;35(1):1-9.
9.
Hoang QV, Cunningham ET, Jr., Sorenson JA, Freund KB. The "pitchfork sign" a
distinctive optical coherence tomography finding in inflammatory choroidal
neovascularization. Retina 2013;33(5):1049-55.
10.
Hoang QV, Freund KB. Reply: To PMID 23514797. Retina 2015;35(3):e24.

17

Case #2
K. Bailey Freund, MD, New York, NY

Case History: A 57-year-old female reported the recent onset of a central grey
scotoma in her right eye. Her past ocular history was unremarkable. Her significant past
medical history included a low-grade ovarian carcinoma, for which she was receiving
chemotherapy with pimasertib.
Clinical examination: Visual acuity was 20/15 in both eyes. The slit-lamp examination
was unremarkable. Ophthalmoscopic examination showed bilateral multifocal serous
retinal detachments involving the posterior pole. An area of myelinated nerve fibers was
present along the infero-temporal vascular arcade of the left eye. Optical coherence
tomography (OCT) showed bilateral areas of neurosensory detachments with very
shallow areas of fluid beneath both the foveae. Choroidal thickness appeared normal to
mildly thick. Fundus autofluorescence (FAF) revealed patchy areas of
hyperautofluorescence corresponding to the areas of exudative detachment.
Fluorescein angiography (FA) of both eyes showed mild hyperfluorescence of the
serous detachments without areas of focal leakage.
Diagnosis
Serous retinopathy secondary to MEK inhibitor treatment

18

References
Martinelli E, Troiani T, D'Aiuto E, et al. Antitumor activity of pimasertib, a selective MEK
1/2 inhibitor, in combination with PI3K/mTOR inhibitors or with multi-targeted kinase
inhibitors in pimasertib-resistant human lung and colorectal cancer cells. International
journal of cancer. Journal international du cancer. 2013;133(9):2089-2101.
Jiang Q, Cao C, Lu S, et al. MEK/ERK pathway mediates UVB-induced AQP1
downregulation and water permeability impairment in human retinal pigment epithelial
cells. International journal of molecular medicine. 2009;23(6):771-777.
Infante JR, Fecher LA, Falchook GS, et al. Safety, pharmacokinetic, pharmacodynamic,
and efficacy data for the oral MEK inhibitor trametinib: a phase 1 dose-escalation trial.
The Lancet. Oncology. 2012;13(8):773-781.
Urner-Bloch U, Urner M, Stieger P, et al. Transient MEK inhibitor-associated
retinopathy in metastatic melanoma. Annals of oncology : official journal of the
European Society for Medical Oncology / ESMO. 2014;25(7):1437-1441.
van Dijk EH, van Herpen CM, Marinkovic M, et al. Serous Retinopathy Associated with
Mitogen-Activated Protein Kinase Kinase Inhibition (Binimetinib) for Metastatic
Cutaneous and Uveal Melanoma. Ophthalmology. 2015;122(9):1907-1916.
McCannel TA, Chmielowski B, Finn RS, et al. Bilateral subfoveal neurosensory retinal
detachment associated with MEK inhibitor use for metastatic cancer. JAMA
Ophthalmol. 2014;132(8):1005-1009.

19

Case #3
K. Bailey Freund, MD, New York, NY
Case History: A 47-year-old woman was referred by her comprehensive
ophthalmologist for an evaluation of macular pigment abnormalities. She had
complained of visual changes that were primarily related to uncorrected refractive error.
She denied a history of macular disease in both parents but reported that a sister had
recently been diagnosed with macular pigment changes.
Clinical examination: On presentation, best-corrected visual acuity was 20/20 in both
eyes. Dilated funduscopic examination showed bilateral findings of focal areas of
pigment hyperplasia in the paramacular region, forming a ring-like pattern in her both
eyes. Additional RPE changes similar to the macular alterations were noted nasal to the
optic disc. Fluorescein angiography showed an absence of a dark choroid. Hypofluorescent areas corresponding to the granular RPE mottling were seen. There was no
evidence of retinal vascular abnormalities or leakage. Multi-color scanning laser
imaging highlighted the RPE changes. Near infrared reflectance showed hyperreflectivity corresponding to the granular RPE mottling. Spectral-domain optical
coherence tomography (OCT) showed areas of hyper-reflective RPE deposits
corresponding to the clinically noted RPE changes. Choroidal thickness was normal in
both eyes. Fundus autofluorescence (AF) imaging showed peripapillary involvement.
There was hyperautofluorescence of the RPE lesions in both eyes and granular
hypoautofluorescence changes diffusely throughout the central macula. The fovea was
largely spared. Ultra-widefield fundus AF showed no peripheral involvement.
A review of systems disclosed pre-diabetes and recent hearing difficulties. Of note, the
patient was undergoing a workup for episodes of dizziness and headache that revealed
multiple supratentorial white matter lesions on neuroimaging. Considering the
multimodal imaging findings and her medical history, the pigmentary retinopathy
associated with the mtDNA A3243G mutation was suspected. Genetic testing was
performed and the mtDNA A3243G point mutation was identified confirming a diagnosis
of MELAS.

Diagnosis
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
(MELAS)

20

References
Sue CM, Mitchell P, Crimmins DS, et al. Pigmentary retinopathy associated with the
mitochondrial DNA 3243 point mutation. Neurology 1997;49: 1013-7.
Smith PR, Bain SC, Good PA, et al. Pigmentary retinal dystrophy and the syndrome of
maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243
tRNA(Leu) A to G mutation. Ophthalmology 1999;106: 1101-8.
Manwaring N, Jones MM, Wang JJ, et al. Population prevalence of the MELAS A3243G
mutation. Mitochondrion 2007;7: 230-3.
Daruich A, Matet A, Borruat FX. Macular dystrophy associated with the mitochondrial
DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases
and review of the literature. BMC Ophthalmol 2014;14: 77.
Strauss DS, Freund KB. Diagnosis of maternally inherited diabetes and deafness
(mitochondrial A3243G mutation) based on funduscopic appearance in an
asymptomatic patient. Br J Ophthalmol 2012;96: 604.
Isashiki Y, Nakagawa M, Ohba N, et al. Retinal manifestations in mitochondrial
diseases associated with mitochondrial DNA mutation. Acta Ophthalmol Scand
1998;76: 6-13.

21

Case #4
K. Bailey Freund, MD, New York, NY
Case History: A 16-year-old white female with a history of neurofibromatosis type 1
(NF1) complained of blurred vision with prolonged light and dark adaptation and
reported that adjustment changes in ambient lighting was taking 510 minutes.
Symptoms had arisen gradually over several weeks. The right eye was amblyopic due
to a glioma of the right optic nerve with chiasmal and bilateral optic tract involvement.
The patient had received a 3-year chemotherapy regimen in childhood but radiotherapy
had never been administered.
Clinical Examination: At presentation, corrected visual acuities were counting fingers
at 6 inches in the right eye and 20/150 improving to 20/40 with pinholes in the left eye.
Lisch nodules were seen in both eyes with right iris hyperchromia and a left posterior
polar cataract. There were no cells in the anterior chambers and vitreous, and
intraocular pressure was 10mmHg bilaterally. Ophthalmoscopy revealed extensive and
severe attenuation of the retinal vasculature in the left eye involving mainly the temporal
and inferior peripheries, with several areas of collateralization. The left inferior second
order branch venule was fibrosed. Foci of neovascularization were noted along the
border of ischemic areas of retina. The findings were more readily appreciated on redfree imaging that also revealed vascular tortuosity in the superotemporal quadrant of
the right retina. Both optic discs were pale. Ultra-widefield fluorescein angiography
revealed the full extent of peripheral vascular closure and pruning with multiple foci of
nascent and established neovascularization throughout the fundus manifesting as
hyperfluorescence with leakage. Leakage was also observed from the perifoveal
capillary bed due to severe telangiectasis with irregular enlargement of the foveal
avascular zone. Fluorescein angiography of the right eye showed capillary closure
localized to the superotemporal far periphery. Optical coherence tomography showed
normal foveal contours in both eyes with physiological macular thickness.
Laboratory investigations including blood count, electrolytes and inflammatory markers
were unremarkable, and thrombophilia and homocysteinuria were excluded. Cranial
magnetic resonance imaging showed enlargement of the chiasm and of both optic
nerves and optic tracts, with no associated enhancement, consistent with optic pathway
and hypothalamic glioma. These findings were unchanged compared with previous
imaging. A small aneurysm of the cavernous right internal carotid artery was suspected
and confirmed by computed tomography angiography.

Diagnosis
Retinal ischemia and neovascularization secondary to neurofibromatosis type 1 (NF1)

22

References
Destro M, D'Amico DJ, Gragoudas ES, et al. Retinal manifestations of
neurofibromatosis. Diagnosis and management. Archives of ophthalmology. May
1991;109(5):662-666.
Shields JA, Pellegrini M, Kaliki S, Mashayekhi A, Shields CL. Retinal vasoproliferative
tumors in 6 patients with neurofibromatosis type 1. JAMA ophthalmology. Feb
2014;132(2):190-196.
Mori F, Kawai M, Sato E, Igarishi S, Hikichi T, Yoshida A. Branch retinal vein occlusion
in a Japanese patient with neurofibromatosis 1. Japanese journal of ophthalmology.
Nov-Dec 2001;45(6):634-635.
Barrall JL, Summers CG. Ocular ischemic syndrome in a child with moyamoya disease
and neurofibromatosis. Survey of ophthalmology. May-Jun 1996;40(6):500-504.
Erickson RP, Woolliscroft J, Allen RJ. Familial occurrence of intracranial arterial
occlusive disease (Moyamoya) in neurofibromatosis. Clinical genetics. Sep
1980;18(3):191-196.
Witmer MT, Levy R, Yohay K, Kiss S. Ophthalmic artery ischemic syndrome associated
with neurofibromatosis and moyamoya syndrome. JAMA ophthalmology. Apr
2013;131(4):538-539.
Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal vessels in
neurofibromatosis type 1: report of 12 cases. The British journal of ophthalmology. Mar
2002;86(3):282-284.

23

Karadimas P, Hatzispasou E, Bouzas EA. Retinal vascular abnormalities in

neurofibromatosis type 1. Journal of neuro-ophthalmology : the official journal of the
North American Neuro-Ophthalmology Society. Dec 2003;23(4):274-275.
Moadel K, Yannuzzi LA, Ho AC, Ursekar A. Retinal vascular occlusive disease in a child
with neurofibromatosis. Archives of ophthalmology. Aug 1994;112(8):1021-1023.
Tholen AM, Messmer EP, Landau K. Peripheral retinal vascular occlusive disorder in a
young patient with neurofibromatosis 1. Retina. 1998;18(2):184-186.
Pichi F, Morara M, Lembo A, Ciardella AP, Meduri A, Nucci P. Neovascular glaucoma
induced by peripheral retinal ischemia in neurofibromatosis type 1: management and
imaging features. Case reports in ophthalmology. Jan 2013;4(1):69-73.

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Case 1
Carol L Shields, MD
A 58-year-old woman presented with severe left eye pain with radiation to the left side
of her face associated with decreased visual acuity for 8 months. She recalled stage 4
lung adenocarcinoma diagnosed in 2009 with metastasis to the left lung and lymph
nodes.
A full body positron emission tomography (PET) was negative for
extrapulmonary metastasis. She refused palliative treatment with Tarceva. The patient
had seen many ophthalmologists and was given several different diagnoses including
posterior scleritis, trigeminal neuralgia, and choroidal metastasis.
At our visit, visual acuity was 20/20 right eye and 20/80 left eye. The anterior segment
exam was normal in both eyes. The right fundus was normal. The left fundus showed
bullous retinal detachment and a flat peripapillary amelanotic choroidal mass measuring
16 x 10 x 2.6 mm. The mass was subtle and easily confused with RPE alterations.
EDI-OCT showed subretinal fluid and a lumpy bumpy surface topography, suggestive
of metastasis. The patient was scheduled for fine needle aspiration biopsy and external
radiotherapy.
The choroid is the most common site of ocular metastatis. Choroidal metastases
emanate from relatively common tumors, most often carcinoma of the breast (53%) or
lung (20%). Bilateral, multifocal lesions are more suggestive of primary breast cancer.
Metastasis from lung cancer tend to be unilateral (80%), relatively large in size (mean
base of 9 mm and thickness of 3 mm), and presents before the lung cancer is detected
in nearly 50% of cases. It is under-recognized that another prominent symptom of
choroidal metastasis is unrelenting low-grade ocular pain (7%). The symptom of
pain seems to be more common in patients with lung cancer metastasis (14%).
Diagnosis
Painful choroidal metastasis

25

References
Shields CL, Shields JA, Gross NE, Schwartz GP, Lally SE. Survey of 520 eyes with
uveal metastases. Ophthalmol 1997;104:1265-76.
Shah, SU, Mashayekhi A, Shields CL, et al. Uveal metastasis from lung cancer: Clinical
features, treatment, and outcome in 194 patients. Ophthalmol. 2014;121:352-7.

26

Case 2
Carol L Shields, MD
A 19-month old girl presented with left exotropia and visual acuity of fix and follow in
each eye. The left eye revealed an epimacular membrane with retinal traction and gray
discoloration of the underlying retina, consistent with combined hamartoma. At age 5
years, the hamartoma remained unchanged. Time domain OCT demonstrated
epiretinal membrane with undulation of the retina, RPE, choroid and sclera. Horizontal
traction was observed clinically and there was no vertical vitreoretinal traction on OCT.
At age 10 years, time domain OCT depicted smooth retinal surface, dense epiretinal
membrane, retinal thickening with loss of detail, smooth RPE layer and abrupt thinning
of the underlying choroid with slight outward bowing. At age 14 years, visual acuity was
reduced to counting fingers OS and spectral domain EDI-OCT depicted thick epiretinal
membrane with horizontal traction causing folded retina, and progressive focal
choroidal excavation bowing outward, with choroidal thinning and scleral bowing,
precisely underlying the hamartoma.
In 2006, Jampol et al described a myopic patient with a peculiar finding on time domain
OCT showing unilateral cup-shaped depression of the subfoveal retinal pigment
epithelium (RPE) and outward choroid bowing. The overlying retina was flat and visual
acuity was preserved. Later, Margolis et al illustrated the EDI-OCT features of this
microstaphyloma in 13 eyes and used the term focal choroidal excavation. They
found this condition most often in eyes with mild myopia, manifesting as a yellow spot in
the foveal region with EDI-OCT features of an abrupt cup-shaped RPE-choroidal
depression with focal choroidal thinning. They noted two retinal patterns in which the
retina appeared attached to the RPE (conforming) or separated from the RPE
(nonconforming).
Little is known about the cause of focal choroidal excavation, but a congenital origin
has been hypothesized because most demonstrate no previous insult. However,
secondary focal choroidal excavation has been associated with age-related macular
degeneration, central serous chorioretinopathy, polypoidal choroidal vasculopathy, and
Best disease. In this case, focal choroidal excavation gradually developed over 10
years in a child with combined hamartoma of the retina and RPE.
Diagnosis
Focal choroidal excavation

27

References
Jampol LM, Shankle J, Schroeder R, et. al. Diagnostic and therapeutic challenges.
Retina 2006;26:1072-6.
Margolis R, Mukkamala SK, Jampol LM, et. al. The expanded spectrum of focal
choroidal excavation. Arch Ophthalmol 2011;129):1320-5.
Sivalingam M, Say EAT, Shields CL. Evolution of focal choroidal excavation underlying
combined hamartoma of the retina and retinal pigment epithelium in a child. Submitted
for publication.

28

Case 3
Carol L Shields, MD
A 7 year old girl developed blurred vision and had an anterior uveitis that was
nonresponsive to topical steroids. There was a 1 year period of question whether the
uveitis was infectious or inflammatory. Hyphema developed off and on. the pressure
elevated to 42 mm Hg. Two needle biopsies of the aqueous showed lymphocytes
consistent with inflammation. The patient was referred to us and fine needle aspiration
biopsy showed malignant small round blue cells with occasional rosette formation with
high mitotic activity, strongly suggestive of anterior segment retinoblastoma. There
was no retinoblastoma in the posterior segment of the eye. The tumor was limited to
the anterior segment.
Treatment included systemic intravenous chemotherapy using six cycles of vincristine,
etoposide and carboplatin followed by sterilization of the anterior segment with Iodine125 plaque brachytherapy providing 3500 cGy (centigray) to the tumor apex. At 2 years
follow up, the patient is well without metastasis and with visual acuity of 20/40. Genetic
testing proved somatic mutation.
Diagnosis
Anterior segment retinoblastoma

References
Grossniklaus HE, Dhaliwal RS, Martin DF. Diffuse anterior retinoblastoma. Retina
1998;18:238-41.
Khetan V, Sudrik S, Singh S, Gopal L, Krishnakumar S. Diffuse anterior retinoblastoma
without undetectable retinal involvement. J Pediatr Ophthalmol Strabismus 2011;15:48
Online: e 7-9.

29

Shields CL, Ghassemi F, Tuncer S, Thangappan A, Shields JA. Clinical spectrum of

diffuse infiltrating retinoblastoma in 34 consecutive eyes. Ophthalmol 2008; 115: 22538.

30

Case 4
Carol L Shields, MD
A 57 year old woman with choroidal nevus underwent EDI-OCT and was found to have
an unusual scleral bulge and choroidal thinning temporal to the macular region in each
eye. This feature is a normal EDI-OCT finding as originally discovered by Dolz-Marco et
al.
Dolz-Marco et al. later evaluated swept source (SS) tomographic characteristics of
focal inferotemporal scleral bulge with choroidal thinning in 166 healthy eyes of
106 patients and found that 13% (22 eyes of 16 patients) demonstrated a focal scleral
bulge. The scleral bulge was not visible ophthalmoscopically in any case. By SS-OCT,
the scleral bulge had a mean basal diameter of 3225 microns and mean distance
inferotemporal to the foveola of 2261 microns. Compared to normal submacular scleral
thickness, the inferotemporal scleral bulge was a mean of 107 microns thicker and the
mean overlying choroidal thickness was 26 microns less compared to immediately
adjacent site. The overlying retinal pigment epithelium and inner retinal contour were
normal in all cases. So, in summary, focal inferotemporal scleral bulge with
choroidal thinning is found in 13% of healthy eyes and the clinical significance of this
finding is under evaluation.
Diagnosis
Focal Inferotemporal Scleral Bulge with Choroidal Thinning

References
Dolz-Marco R, Gallego-Pinazo R, Lpez-Glvez MI, Daz-Llopis M, Shields CL. Focal
Inferotemporal Scleral Bulge With Choroidal Thinning: A New Observation on HighPenetration Optical Coherence Tomography. Retina. 2014 Aug 28 [Epub ahead of
print].
Dolz-Marco R, Gallego-Pinazo R, Lpez-Glvez MI, Tembl JI, Daz-Llopis M, Shields
CL. Focal Inferotemporal Scleral Bulge with Choroidal Thinning: An Under-Recognized
Tomographic Feature. Submitted for publication

31

Case 1
Jerry A Shields, MD
Early history
A 22 month old girl was noted to have progressive leukocoria OS and was found to
have a dense cataract with no view of the fundus. A large transillumination shadow was
seen in the ciliary body. Other than melanoma, what are possible causes of a dense
cataract in this child with a transillumination shadow?
Final history.
UBM showed a large ciliary body mass and medulloepithelioma was diagnosed and
enucleation performed. Histopathology revealed a malignant teratoid
medulloepithelioma. The interesting history histopathology of this childhood tumor will
be discussed.
Diagnosis
Malignant teratoid medulloepithelioma

References
Kaliki S, Shields CL, Eagle RC Jr. Vemuganti G, Almeida A, Manjandavida FP, Mulay
K, Honavar SG, Shields JA. Ciliary body medulloepithelioma: Analysis of 41 cases.
Ophthalmology 2013;?? 1-8
Shields JA, Eagle RC, Ferguson K, Shields CL. Tumors of the nonpigmented
epithelium of the ciliary body. The 2013 Lorenz E. Zimmerman Tribute Lecture. Retina
2014

32

Case 2
Jerry A Shields, MD
Early history
An 84 year old woman was referred for an unusual dark orbital/conjunctival mass.
While I was taking her history and scratching my head, she reached in her purse and
pulled out a test tube that she had carried as a souvenir for 25 years. The diagnosis
became immediately obvious. How could a test tube provide the diagnosis?
Final history.
The patient had retinal detachment surgery 30 years earlier and the retinal surgeon
used MIRAgel to facilitate closure of the retinal break. Because of several reports of
migrating MIROgel implants that resembled orbital tumors, it was subsequently taken
off the market. Other similar cases with be briefly shown.
Diagnosis
Extruded MIRAget scleral buckle

Reference
Shields CL, Demirci H, Marr BP, Mashayekhi A, Materin MA, Shields JA. Expanding
MIRAgelTM scleral buckle simulating an orbital tumor in 4 cases. Ophth Plast Reconstr
Surg 2005; 21:32-8

33

Case 3
Jerry A Shields, MD
Early history
A 57 year old man had mild left exotropia and amblyopia since early childhood and was
treated with patching with mild improvement. At age 57 he had very noticeable
worsening of vision in the left eye with marked progression of the exotropia. What could
have caused this?
Final history.
He was referred to us because fundus examination revealed a mushroom shaped mass
in the macular area and extending beneath the fovea. He was treated with plaque
brachytherapy and is doing well after almost 2 years. This is an unusual example of a
choroidal melanoma in a patient whose initial complaint and concern was progressive
exotropia. It is tempting to speculate that he could have had a choroidal nevus since
early childhood, located partly under the fovea and causing mild visual loss and
amblyopia. When the melanoma developed and extended further beneath the fovea the
exotropia progressed due to worsening of fixation.
Diagnosis
Progressive exotropia from a uveal melanoma.

34

Case 4
Jerry A Shields, MD
Early history
In 1990 a 69 year old woman was referred for evaluation and management of a
macular lesion in her right eye. In addition she had congenital myelinated retinal nerve
fiber (MNFs) in the same eye nasally. After treatment of the primary lesion the MNFs
gradually disappeared and were completely resolved after 12 years. What treatment
was done for the macular lesion that caused the MNFs to disappear?
Final history
The patient had a choroidal melanoma in the macular area that was treated with plaque
brachytherapy. The melanoma showed a favorable response but there was radiation
retinopathy as expected. It appears that the irradiation accounted for the disappearance
of the MNF. There are several other causes of resolution of retinal MNFs that will be
discussed.
Diagnosis
Disappearing myelinated nerve fibers (s/p brachytherapy of uveal melanoma)

Reference
Mashayekhi A, Shields CL, Shields JA. Disappearance of myelinated retinal nerve
fibers after plaque radiotherapy for choroidal melanoma. Retina 2003;23:572-3.
(This article quotes several other conditions that have been associated with
disappearance of MNFs. These are mentioned in the oral presentation.

35

Case AA
Lee M Jampol, MD
The patient is a 19 year old female. She was first seen a year ago with a complaint of
distorted vision in the left eye; she carried a diagnosis of histoplasmosis. The
symptoms started in March of 2014. She has received a variety of injections into her
eye, with some transient improvement in vision, but then it dropped again. She has
been seen by us and the vision has been 20/20-. There has been no anterior chamber
reaction, no vitreous cells, she has a macular lesion in the left eye. She has had
workup consisting of ultrasound, OCT, fluorescein, TB, and sarcoid, without a certain
diagnosis. Steroids (po) did not affect the lesion. She is presented as an unknown.

References
Unknown

36

Case MK
Lee M Jampol, MD
The patient is as 7 year old twin (fraternal), with a family history of von Hippel disease.
She has no known systemic or ocular findings. As part of a family screen, a lesion was
noted in her left macula, it is clearly seen on the OCT. The OCT Angiography shows
that the lesion is not vascular. Is this an angioma? Is this is a stage of a tumor prior to it
being vascularized?

Reference
Chew, EY. Schachat, AP Capillary Hemangioblastoma of the Retina and von HippelLindau Disease in RETINA S.J. Ryan, Editor, 5th Ed., page 2156-2163.

37

Case EH
Lee M Jampol, MD
The patient is a 56 year old female, she has been followed by me with a diagnosis of
Best disease. She says her mothers sister and her grandmothers sister had similar
retina problems. She has 3 sisters and a son with no apparent retinal problems. The
examination in the right eye from 2009 showed an excavated lesion. The examination
in the left eye has shown a serous detachment of the retina with vitelliform material
under the retina. The diagnosis has been Best disease but she has not been
genetically tested. A resemblance to North Carolina Macular dystrophy has been noted
and the DNA has been sent to Ed Stone for molecular diagnosis.

Reference
K.W. Small, et al. North Carolina Macular Dystrophy is caused by dysregulation of the
retinal transcription factor PRDM13. Ophthalmol 2015 (in press)

38

Case RC
Lee M Jampol, MD
The patient is a 61 year old, Mexican Male. In August of 2014 he was in Belize, where
he went through caves and was exposed to bats. In the fall of 2014, he noted problems
with vision in his right eye. He was noticed to have changes in the retina and was
treated with steroids and avastin. The vision stabilized until the spring of 2015, when
he again noticed symptoms in the right eye. He was sent down for a differential
diagnosis of Serpiginous vs. Multi-focal choroiditis. He was noted to have changes in
his right eye with a meandering track of scarring beginning at the disk, going temporal
to the macular. This was associated with inflammation of the eye, swelling of the retina,
a white spot at the tip of the lesion, and distortion of the fovea. He was treated with
thermal laser, steroids, Albendazole, Bactrim, and a vitrectomy to remove scar tissue.
The diagnosis remains uncertain.

References
none

39

Case JT
Lee M Jampol, MD, Chicago, IL
The patient is a 15 year old female referred down because of vision loss in the right
eye. She is in apparent good health; she has been noted to have decreased in vision in
first the right eye, and recently in left eye as well. This vision loss has occurred since
2013. She denies trouble with dark adaptation, in fact, she denies trouble with her eyes
and seems totally oblivious to her visual loss; she complains of headaches. The
examination shows a vision of hand motions in the right eye and 20/40 in the left eye.
Visual field testing shows a very dense central scotoma in the right eye. In the mid
periphery of both eyes there are small white dots seen swirling out towards the
periphery, this is more marked in the right than on the left. EOG testing was normal,
ERG testing showed values in the lower range of normal with a lower value in the right
eye.
Diagnosis
? Fundus Albipunctatus (genetic testing pending)

References

40

41

42

Case AF
Lee M Jampol, MD
The patient is a 29 year old female, in 2013 she was seen elsewhere, she had some
visual loss in the right eye. She was told she had central serous retinopathy. This
resolved within approximately 2 months. Then in January of 2014 she complained of
flashing spots temporally in the left eye, her vision was still 20/20 in both eyes. Our
evaluation showed multiple lesions with white spots throughout the left fundus. The
fovea was ok. The question was, is this MEWDS or multifocal choroiditis. No treatment
was given. She was seen back in March of 2014 and her symptoms were improving; a
diagnosis was made. She came back in June 2014 again complaining of more spots
and sparkles in the left eye. Her vision was 20/30. This time she had definite foveal
granularity in the left fovea and new white spots scattered in the fundus. This was at
least her third episode, she returned in August 2014 and the vision in the left eye
improved to 20/15, there was still some fovea granularity, no white spots were present.
The right fovea was also thought to be slightly granular. The patient was checked a
year later. She had not had any problems over the year. She had diminished
granularity in the fovea of the left eye, she had some mild pigment granularity in the
areas in the mid-periphery.

Diagnosis
MEWDS (with recurrent symptomatology OS-but inactive for the last year)

Reference
Mirza, R. Jampol, LM: White Spot Syndromes and Related Diseases in RETINA
th
SJ Ryan, Editor, 5 Ed., pages 1364-1368

43

Case LP
Lee M Jampol, MD
17 year old male previously in good health, seen in retina clinic1 day after referral from
comprehensive ophthalmologist for bilateral vision loss. Had presented 6 weeks earlier
with decreased vision. Part-time metal welder, denies any ocular trauma.
Past Medical History: Negative
Past Ocular History: Negative
Family History: Mother and Father

DM

Recurrent, self-induced laser pointer maculopathy can masquerade as an organic

process. Hand-held laser pointers pose threat of vision loss and power labels often
underrepresent true laser power. En face OCT can be used to follow distribution of
single layer lesions

References
Lee GD, Baumal CR, Lally, D. et al: Retinal injury after inadvertent hand-held laser
exposure. Retina 2014; 34. 2388-96
Rusu I, Sherman J. et al: Spectral-domain optical coherence tomography and fundus
autofluorescence findings in a case of laser-pointer induced maculopathy Retina Cases
Brief Report 2013; 7:371-3
44

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