mystery retina

1. Mystery Retina 2019: Interactive Discussion of
Challenging Cases
William F Mieler, MD
Chicago, IL
Jerry A Shields, MD Richard F Spaide, MD
Philadelphia, PA New York, NY
Carol L Shields, MD K Bailey Freund, MD
Philadelphia, PA New York, NY
David Sarraf, MD SriniVas Sadda, MD
Los Angeles, CA Los Angeles, CA
AAO Instruction Course
Sunday, October 13th (3:15 – 5:30 PM)
San Francisco, CA
For the past 23 years, we have presented our “Mystery Retina-Interactive
Discussion of Challenging Cases” instruction course at the American Academy of
Ophthalmology annual meeting. Each year, we present and discuss
approximately 20 to 25 new and challenging cases.
At the completion of the instruction course, we provide access to an electronic
handout for the attendees, though only at the conclusion of the course, as
otherwise, the cases would not be presented as “mysteries”. We like to have an
interactive course, with the faculty and the audience actively engaging in the
presentations and discussions. So, now that the course has been completed,
our handout has been made available to all attendees on the
www.uic.edu/com/eye website. Alternatively, you can e mail me at
wmieler@uic.edu, and I will send you a copy of the handout as well.
The handout includes a brief summary of each case, representative images, and
pertinent references. Once you have accessed the handout, you can either print
it out or download it to your computer.

2. Case 1
William F Mieler, MD, Chicago, IL
A 56 year old female with diabetes mellitus presented with decreased VA OD >
OS. The acuity was HM OD, and 20/50 OS. Recently, she had been hospitalized
for one month, and had been in a coma with renal failure, requiring emergent
hemodialysis. The patient recovered with supportive therapy, though new visual
features were noted on fundus examination. The diagnosis was confirmed with
serologic testing
Diagnosis
West Nile Virus Chorioretinitis
References
1. Garg S, Jampol LM: Systemic and intraocular manifestations of West Nile virus
infection. Surv Ophthalmol 2005;50:3-13 Lee JH, et al: Viral posterior retinitis.
Surv Ophthalmol 2017
. 2. Merle H, et al: Ocular manifestations of emerging arboviruses: Dengue fever,
Chikungunya, Zika virus, West Nile virus, and yellow fever. J Fr Ophthalmol 2018
2. Karesh JW, et al: Ocular manifestations of mosquito-transmitted diseases. Mil
Med 2018
3. Vasquez V, et al: Dengue, chikungunya, and Zika virus infections imported to
Paris between 2009 and 2016. Characteristics and correlation with outbreaks in
the French overseas territories of Guadeloupe and Martinique. J Infect Dis 2018

3. Case 2
William F Mieler, MD, Chicago, IL
A 50 year olf female presented with photopsias, floaters, and paracentral
scotomas (gray spots) in her field of vision OS > OD. VA was 20/20 OD and OS.
The patient was hypertensive, on oral contraceptives, and ingested a significant
amount of caffeine on a daily basis. The diagnosis was confirmed with imaging
(infrared reflectance). The hypertension was medically stabilized, and the patient
discontinued her oral contraceptives. The symptoms gradually resolved over a
several month timeframe
Diagnosis
Acute macular neuroretinopathy
References
1. Bos PJ,Deutman AF. Acute macular neuroretinopathy. Am J Ophthalmol.
1975;80: 573-84
2. Bhavsar KV, Lin S, Rahimy E, Joseph A, Freund KB, Sarraf D,
Cunningham ET Jr. Acute macular neuroretinopathy: A comprehensive
review of the literature. Surv Ophthalmol. 2016;61:538-65.
3. Casalino G, Arrigo A, Romano F, Munk MR, Bandello F, Parodi MB. Acute
macular neuroretinopathy: pathogenetic insights from optical coherence
tomography angiography. Br J Ophthalmol 2018;0:1-5
4. Liu JC, Nesper PL, Fawzi AA, Gill MK. Acute macular neuroretinopathy
associated with influenza vaccination with decreased flow at the deep
capillary plexus on OCT angiography. Am J Ophthalmol Case Rep.
2018 ;10:96-100

4. 5. Sarraf D, Rahimy E, Fawzi AA, Sohn E, Barbazetto I, Zacks DN, Mittra
RA, Klancnik JM Jr, Mrejen S, Goldberg NR, Beardsley R, Sorenson JA,
Freund KB. Paracentral acute middle maculopathy: a new variant of acute
macular neuroretinopathy associated with retinal capillary ischemia. JAMA
Ophthalmol. 2013;131:1275-87

5. Case 3
William F Mieler, MD, Chicago, IL
A 13 year old male was referred for evaluation of a possible macular dystrophy.
There had been a recent attempt at suicie (sedative medications). VA was 20/50
OD and 20/60 OS. Several streaks were noted in the macular region, while on
SD-OCT vertically aligned bands of hyper-reflectance were noted. The parents
were questioned regarding their son’s access to a hand held laser device
Diagnosis
Self-inflicted laser maculopathy
References
1. Dolz-Marco R, Cunha Souza E, Lida T, Moreira CA Jr, Nakashima A,
Hasegawa T, Freund KB: Iris atrophy; A novel sign of repeated self-
inflicted laser pointer maculopathy. Retina 2017;37:e26-28
2. Hohberger B, Bergua A: Self-inflicted laser-induced maculopathy in
adolescence. Ophthalmologe 2017;114:259-61
3. Linton E, Walkden A, Steeples LR, Bhargava A, Williams G, Bailey C,
Quhil FM, Kelly SP: Retinal burns from laser pointers: A risk in children
with behavioural problems. Eye (Lond) 2018;doi.10;1038/s41433-018-027
4. Chen X, Dajani OAW, Alibhai AY, et al: Long-term visual recovery in
bilateral handheld laser pointer-induced maculopathy. Retin Cases Brief
Rep 2019 [epub ahead of print]

6. Case 4
William F Mieler, MD
A 36 year olf African American male was referred to the retina service for
evaluation of drusen-like deposits in the retina. The patient has a history of
primary sclerosing cholangitis (and ulcerative colitis), and is on the hepatic
transplant wait list. VA is 20/15 OD and OS. The question is whether or not the
retinal abnormalities are related to the hepatic autoimmune disease process
Diagnosis
Primary Sclerosing Cholangitis (and ulcerative colitis)
Drusen-like deposits
References
1. Kim DD, Mieler WF, Wolf MD: Fundus changes in membranoproliferative
glomerulonephritis. Am J Ophthalmol 1992;114:593-9
2. Dalvin LA, Fervenza FC, Sethi S, Pulido JS. Manifestations of
Complement-Mediated and Immune Complex-Mediated
Membranoproliferative Glomerulonephritis: A Comparative Consecutive
Series. Ophthalmol 2016;123:1588-94.
3. Invernizzi A, dell'Arti L, Leone G, Galimberti D, Garoli E, Moroni G,
Santaniello A, Agarwal A, Viola F. Drusen-like Deposits in Young Adults
Diagnosed With Systemic Lupus Erythematosus. Am J Ophthalmol
2017;175:68-76.

7. .4. McAvoy CE, Silvestri G. Retinal changes associated with type 2
glomerulonephritis. Eye (Lond) 2005;19:985–9
4. Souza Y, Short CD, McLeod D, et al. Long-term follow-up of drusen-like
lesions in patients with type II mesangiocapillary glomerulonephritis. Br J
Ophthalmol 2008;92:950–3.
5. Ando R, Saito W, Kanda A, Kase S, Fujinami K, Sugahara M, Nakamura
Y, Eguchi S, Mori S, Noda K, Shinoda K, Ishida S. Clinical Features of
Japanese Patients With Anti-α-enolase Antibody-Positive Autoimmune
Retinopathy: Novel Subtype of Multiple Drusen. Am J Ophthalmol.
2018;196:181-96.

8. Case 1
David Sarraf, MD, Los Angeles, CA
41 YEAR OLD FEMALE
• VSION DETERIORATION OS X FEW YEARS NOW
• NO OTHER COMPLAINTS
• POH: NONE, NO SURGERIES
• PMH: IBD (HAD COLECTOMY), ENDOMETRIOSIS, ??
• MEDS: CELEXA, AMBIEN, POTASSIUM CITRATE
• SH: NONSMOKER
• EXAM: 20/20 OD 20/50 OS (?? AMBLYOPIA)
• IOP: 15OD, 16OS, ANTERIOR SEGMENT WNL

9. DIAGNOSIS
• PENTOSAN POLYSULFATE TOXICITY (TREATMENT OF INTERSTITIAL CYSTITIS)
REFERENCES:
1. PEARCE WA, CHEN R, JAIN N. PIGMENTARY MACULOPATHY ASSOCIATED WITH
CHRONIC EXPOSURE TO PENTOSAN POLYSULFATE SODIUM.
OPHTHALMOLOGY. 125(11):1793-1802. 2018.

10. Case 2
David Sarraf, MD, Los Angeles, CA
40 year old AUNT with ataxia and VA 20/60 OU. OCT with central EZ loss OU
but color fundus photography and fundus autofluorescence unremarkable OU
(SEE TOP OCT OD)
20 year old NEPHEW with vision loss and ataxia presented with HM VA OU and
diffuse chorioretinal atrophy in the posterior pole and periphery
Diagnosis
Genetic Testing: Spinocerebellar ataxia (SCA 7)
References
1. Horton LC, Frosch MP, Vangel MG, et al. Spinocerebellar ataxia type 7:
clinical course, phenotype-genotype correlations, and neuropathology.
Cerebellum 2013; 12(2):176-93.
2. Aleman TS, Cideciyan AV, Volpe NJ. Spinocerebellar ataxia type 7
(SCA7) shows a cone-rod dystrophy phenotype. Exp Eye Res. 2002;
74(6):737-45.
3. Yip G, Henao M, Huang LL, Retinal Manifestations Of Spinocerebellar
Ataxia Type 7 In Two Consecutive Generations. Retin Cases Brief Rep.
2017; 11 SUPP(1):S86-S89

11. Case 3
David Sarraf, MD, Los Angeles, CA
• 18 YEAR OLD FEMALE REFERRED FOR OPHTHALMIC WORKUP
• AGE 2: BEGAN HAVING HEAD TILT, NYSTAGMUS
• AGE 5: GAIT DIFFICULTIES, WHICH PROGRESSED TO WHEELCHAIR
DEPENDENCE
• AGE 16: MYOCLONIC JERKS
• PMH: AS ABOVE
• FHX: PARENTS ARE FIRST COUSINS

12. LYSOSOMAL STORAGE DISEASES
• TAY-SACHS DISEASE (GM2 GANGLIOSIDOSIS, TYPE 1)
• SANDHOFF DISEASE (GM2 GANGLIOSIDOSIS, TYPE 2)
• NIEMANN-PICK DISEASE
• GM1 GANGLIOSIDOSIS
• SIALIDOSIS
SIALIDOSIS
• CONFIRMED BY GENETIC TESTING
• MUCOLIPIDOSIS TYPE 1, CHERRY RED SPOT/MYOCLONUS
SYNDROME
• DEFICIENCY OF ALPHA-N-NEURAMINIDASE (SIALIDASE)
• FINDINGS INCLUDE TYPICAL FACIAL FEATURES, MACROGLOSSIA,
MYOCLONUS, ATAXIA, TREMORS, SEIZURES, HEPATOMEGALY,
SPLENOMEGALY
• OCULAR FINDINGS INCLUDE CHERRY RED SPOT, NYSTAGMUS,
DECREASED VA
• DEPOSITION OF MATERIAL IN GCL, MORE OBVIOUS IN MACULA:
MANY LAYERS THICK
• LATER CAN GET CORNEAL CLOUDING, LENS CHANGES,
PROGRESSIVE OPTIC ATROPHY

13.  TYPE I
 MILDER FORM, LATER ONSET
 MYOCLONUS, SEIZURES, CHERRY-RED SPOT
 RELATIVELY RARE COMPARED WITH TYPE II
 TYPE II
 MORE SEVERE CONGENITAL AND INFANTILE FORM
 HEPATOSPLENOMEGALY, BONE DEFORMITIES AND COARSE
FACIAL FEATURES, INTELLECTUAL DISABILITY, PREMATURE
DEATH
REFERENCES
Rosenberg R, Halimi E, Mention-Mulliez K, Cuisset JM, Holder M, Defoort-
Dhellemmes S. Five year follow-up of two sisters with type II sialidosis: systemic
and ophthalmic findings including OCT analysis. J Pediatr Ophthalmol
Strabismus. 2013; 2:50.

14. Case 1
Carol L Shields, MD, Philadelphia, PA
History and findings
A 40-year-old female was found on routine examination to have corkscrew retinal
vessels OU. Visual acuity was 20/20 OU and she was asymptomatic.
The corkscrew vessels were primarily venous. Located randomly in the fundus,
and best seen on IVFA. There was no leakage, edema, exudation, hemorrhage,
traction, or tumor.
Further history revealed neurofibromatosis type 1 (NF1).
Diagnosis
Corkscrew retinal vessels in a patient with neurofibromatosis 1
Discussion
Retinal microvascular tortuosity is a subtle ophthalmic finding that can be
overlooked on general ophthalmic examination. This important finding can be
associated with systemic and ocular disease processes, including older patient
age, increased body mass index, sleep apnea, systemic hypertension, diabetes
mellitus, retinopathy of prematurity, Coats disease, familial retinal arteriolar
tortuosity, and others. More recent reports have revealed the presence of retinal
microvascular tortuosity as an ophthalmic manifestation of NF-1.
Abdolrahimzadeh et al. have proposed that these microvascular abnormalities

15. represent defective migration of vasomotor nerve cells from the embryonic neural
crest.
References
1. Florakis E, Ancona-Lezama D, Shields CL. Unraveled fringe-like margins
and biphasic autofluorescence of unilateral retinal pigment epithelium
dysgenesis. Retinal Cases & Brief Reports;2019, in press.
2. Abdolrahimzadeh S, Felli L, Piraino DC, et al. Retinal microvascular
abnormalities overlying choroidal nodules in neurofibromatosis type 1.
BMC Ophthalmol. 2014;14:146.
3. Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal
vessels in neurofibromatosis type 1: Report of 12 cases. Br J Ophthalmol.
2002;86:282-284.

16. Case 2
Carol L Shields, MD, Philadelphia, PA
History and findings
A 23-year-old male noted painless blurred vision OS. Visual acuity was 20/20 OD
and 20/300 OS. He denied drug use. He was seen in an ER and suspected to
have endophthalmitis. Tap and inject was planned. He was referred for our
opinion.
Differential diagnosis included retina/vitreous infection, inflammation (sarcoid),
trauma, and tumor. Once again he denied drug abuse. Further inspection
suggested possible retinoblastoma in this 23-year-old as the lesion appeared
vascularized, with feeder vessels, hemorrhage, and fluffy “cotton candy” vitreous
seeds.
Diagnosis
Retinoblastoma in a 23-year-old man
Discussion
While retinoblastoma is the most common primary intraocular malignancy of
childhood, retinoblastoma in adults is exceedingly rare. A literature search was
executed on PubMed and Ovid Medline with the MeSH terms “eye cancer,
retinoblastoma” and “adult” or “adult children”, which identified 26 cases of
reported retinoblastoma in adults over age 21 years. This is the first case, to the

17. authors’ knowledge, of intra-arterial chemotherapy as primary treatment for
retinoblastoma in an adult (≥ 21 years old).
Studies on adults with retinoblastoma reveal more advanced disease (Group D
or E) often requiring enucleation or exenteration. In one case series of eight
patients, the mean age of presentation was 30 years, and a mean duration of
symptoms of 22 months. The cause in of retinoblastoma in adults is speculated
to be reactivation of previously undiagnosed, spontaneously regressed or
arrested retinoblastoma (also termed retinocytoma/retinoma).
References
1. Magan T, Khoo CTL, Jabbour PM, Fuller DG, Shields CL. Intra-arterial
Chemotherapy for Adult Onset Retinoblastoma in a 32-Year-Old Man. J Pediatr
Ophthalmol Strabismus. 2016;53:e43-6.
2. Kaliki S, Shields CL, Gupta A, et al. Newly diagnosed active
retinoblastoma in adults. Retina Phila Pa. 2015;35(12):2483-8.

18. Case 3
Carol L Shields, MD, Philadelphia, PA
History and findings
A 65-year-old male was found to have asymptomatic spot in the left eye. He
denied trauma or ocular inflammation, infection, or treatment.
The left eye revealed a darkly pigmented grey-black lesion at the level of the
retinal pigment epithelium (RPE) with irregular, unraveled fringe-like margins,
consistent with unilateral retinal pigment epithelium dysgenesis (URPED). The
lesion measured 5 mm in basal dimension and was located 400 microns from the
foveola.
Diagnosis
Unilateral retinal pigment epithelium dysgenesis (URPED)
Discussion
Cohen et al were the first to clinically and angiographically describe URPED in 4
patients in 2002 as a deep, solitary oval lesion at the level of the RPE. In that
series, 2 patients (50%) demonstrated associated choroidal neovascularization
(CNV) that was successfully treated with laser photocoagulation. The lesions
showed distinct clinical features described as peripheral fibrosis and hyperplastic
changes of the RPE with central thinning and atrophy of the RPE. These fringe-
like borders were additionally found to be hyperfluorescent on IVFA, and
inversely hypocyanesence on indocyanine green angiography (ICG).

19. Interestingly, 1 patient, had angiographic proof of progression over a period of 10
years, which suggested that this lesion could enlarge over time.
References
1. Cohen SY, Massin, P, Quentel G. Unilateral, idiopathic leopard-spot lesion of
the retinal pigment epithelium. Arch Ophthalmol. 2002;120:512–516.
2. Cohen SY, Fung AE, Tadayoni R, et al. Unilateral retinal pigment epithelium
dysgenesis. Am J Ophthalmol. 2009;148(6):914-919, e2.
3. Florakis E, Ancona-Lezama D, Shields CL. Unraveled fringe-like margins and
biphasic autofluorescence of unilateral retinal pigment epithelium dysgenesis.
Retinal Cases & Brief Reports. 2019;in press.

20. Case 4
Carol L Shields, MD, Philadelphia, PA
History and findings
A 7 year-old boy noted declining vision to 20/50 OD and 20/20 OS. At another
institution he was diagnosed with idiopathic intracranial hypertension and was
placed on Diamox. He was referred for our opinon.
We noted optic disc drusen, confirmed on OCT with related CNVM. He was
treated with anti-VEGF monthly injected and the CNVM resolved. The Diamox
was discontinued.
Diagnosis
Optic disc drusen withg CNV
Discussion
Duncan et al provided a retrospective study 98 eyes of 52 pts with optic disc
drusen, confirmed on fundus photography, OCT, HVF, and ocular ultrasound.
The mean patient age was 11 years. They noted that CNVM was present in 24
(24%) of eyes on SD-OCT and 21 of 24 were located nasally (88%). They
indicated that OCT is highly important in detection of related CNVM.
References
1. Sato T, Mrejen S, Spaide RF. Multimodal imaging of optic disc drusen. AJO
2013;156:275–82.
2. Duncan JE, Freedman SF, El-Dairi MA. The incidence of neovascular
membranes and visual field defects from optic nerve head drusen in children. J
AAPOS 2016; 20:44-8

21. Case 1
K Bailey Freund, MD, New York, NY
A 45 year-old male surgeon preened for a 2nd
opinion regarding a recent
diagnosis of Stargardt disease made during a routine check for diabetic
retinopathy. Ocular history was otherwise unremarkable. He had no visual
complaints. Best-corrected visual acuity was 20/20 in both eyes. There was a
history of type 1 diabetes (Hgb A1C: <7.0%) and hypercholesterolemia.
Medications were Insulin and atorvastatin. Examination revealed unusual retinal
findings that had not been noted previously.
Diagnosis
Rubella Retinopathy
References
1. Cooper LZ, Ziring PR, Ockerse AB, Fedun BA, Kiely B, Krugman S.
Rubella: clinical manifestations and management. American Journal of
Diseases of Children. 1969 Jul 1;118(1):18-29.
2. Deutman AF, Grizzard WS. Rubella retinopathy and subretinal
neovascularization. American journal of ophthalmology. 1978 an;85(1):82-
7.

22. 3. Goldberg N, Chou J, Moore A, Tsang S. Autofluorescence imaging in
rubella retinopathy. Ocular immunology and inflammation. 2009 Dec
1;17(6):400-2.
4. Orth DH, Fishman GA, Segall M, Bhatt A, Yassur Y. Rubella maculopathy.
British Journal of Ophthalmology. 1980 Mar 1;64(3):201-5.
5. Bukowska DM, Wan SL, Chew AL, Chelva E, Tang I, Mackey DA, Chen
FK. Fundus autofluorescence in rubella retinopathy. Retina. 2017 Jan
1;37(1):124-34.

23. Case 2
K. Bailey Freund, MD, New York, NY
A 38-year-old healthy male was referred for an evaluation of reduced central vision
for 1 year. Visual acuity was 20/30- OD and 20/25- OS. Color vision was normal.
Microperimetry showed relative central scotomas OU. OCT showed a bilateral
subfoveal disturbance of the central ELM, EZ, and IZ. A more detailed history
revealed a 10-year history of recreational use of inhaled alkyl nitrites (“poppers”).
Diagnosis
Poppers Maculopathy
References
1. Van Bol LB, Kurt RA, Keane PA, Pal B, Sivaprasad S. Clinical phenotypes
of poppers maculopathy and their links to visual and anatomic recovery.
Ophthalmology. 2017 Sep 1;124(9):1425-7.
2. Davies AJ, Kelly SP, Naylor SG, Bhatt PR, Mathews JP, Sahni J, Haslett
R, McKibbin M. Adverse ophthalmic reaction in poppers users: case series
of ‘poppers maculopathy’. Eye. 2012 Nov;26(11):1479.
3. Gruener AM, Jeffries MA, El Housseini Z, Whitefield L. Poppers
maculopathy. The Lancet. 2014 Nov 1;384(9954):1606.

24. 4. Audo I, El Sanharawi M, Vignal-Clermont C, Villa A, Morin A, Conrath J,
Fompeydie D, Sahel JA, Gocho-Nakashima K, Goureau O, Paques M.
Foveal damage in habitual poppers users. Archives of Ophthalmology.
2011 Jun 13;129(6):703-8.
5. Hui M, Galvin J, Chilov M, Gabrielle PH, Fung AT. Popper maculopathy:
long-term follow-up and case series. Retinal cases & brief reports. 2017
Nov.

25. Case 3
K. Bailey Freund, MD, New York, NY
A 30-year-old female with an unremarkable medical and ocular history was
referred for an evaluation of progressive central metamorphopsia in her left eye.
Visual acuity was 20/20 in her right eye and 20/25 in her left eye. Funduscopic
examination of the left eye showed a subretinal mass with surrounding within
characteristic features of unilateral RPE dysgenesis (URPED) that included
abnormal hyper and hypopigmentation with scalloped margins extending
superiorly and nasally from a normal appearing optic nerve. Fundus
autofluorescence (FAF) of the lesion showed a marginal pattern of hyper and
hypoautofluorescence that was the inverse of the fluorescein angiography (FA)
pattern.
Diagnosis
Retinal pigment epithelium tumor originating from unilateral retinal
pigment epithelium dysgenesis - Long-term f/u of a case presented in
2016
References
1. Cohen SY, Massin P, Quentel G. Clinicopathologic reports, case reports,
and small case series :unilateral, idiopathic leopard-spot lesion of the
retinal pigment epithelium. Arch Ophthalmol. 2002;120(4):512-516
2. Cohen SY, Fung AE, Tadayoni R, et al. Unilateral retinal pigment
epithelium dysgenesis. Am J Ophthalmol. 2009;148(6):914-919, e2.
3. Shields CL, Thangappan A, Hartzell K, et al. Combined hamartoma of the
retina and retinal pigment epithelium in 77 consecutive patients: visual

26. outcome based on macular versus extramacular tumor location.
Ophthalmology. 2008;115(12):2246-2252, e3.
4. Shields JA , Shields CL. Tumors and related lesions of pigment
epithelium. Intraocular tumors, an atlas and textbook 2nd edition.
Lippincott Williams &Wilkins, a Wolters, Kluwer Buisness. 2008; 466-479.
5. Shields JA, Shields CL, Gunduz K, et al. Neoplasms of the retinal pigment
epithelium. Arch Ophthalmol 1999;117(5):601-608.
6. Shields JA, Shields CL, Singh AD. Acquired tumors arising from
congenital hypertrophy of retinal pigment epithelium. Arch Ophthalmol
2000;118:637-641
7. Shields JA, Eagle RC, Shields CL, et al. Malignant transformation of
congenital hypertrophy of the retinal pigment epithelium. Ophthalmology.
2009;116:2213-2216
8. Klein KA, Lally DR, Taney LS, et al. Retinal pigment epithelial
adenocarcinoma presenting as an amelanotic mass. Ophthalmic Surg
Lasers Imaging Retina 2015;46:369–372.
9. Gal-Or O, Finger PT, Fisher YL, et al. Presumed retinal pigment
epithelium tumor originating from unilateral retinal pigment epithelium
dysgenesis. Retinal Cases and Brief Reports. 2019 Apr 1;13(2):121-6.

27. Case 1
Jerry A Shields, MD, Philadelphia, PA
History and findings
Here is an unusual ultrasound. What type is it and what does it show?
Diagnosis
Uterine ultrasound of fetus with intraocular calcified mass - retinoblastoma
Discussion
The baby was delivered and germline mutation retinoblastoma was diagnosed.
The eye was treated with intravenous chemotherapy and the child has done well
with complete tumor control at 3 years follow up. Retinoblastoma is rarely
diagnosed in utero.
References
1. Stathopoulos C, Say EAT, Shields CL. Prenatal ultrasonographic detection
and prenatal (prior to birth) management of hereditary retinoblastoma. Graefes
Arch Clin Exp Ophthalmol 2018 Apr 256(4):861-862.

29. Case 2
Jerry A Shields, MD, Philadelphia, PA
History and findings
A 57-year-old female attorney was found to have patchy yellow choroid OD.
Visual acuity was 20/20 OU. She traveled from Chicago to obtain our opinion.
There was no SRF or CME on OCT. Differential diagnosis included choroidal
inflammation, infection, or neoplasia. OCT showed massive choroidal thickening,
no retinal edema, and extraocular extension.
Diagnosis
Choroidal lymphoma
Discussion
Given the good visual acuity, we chose to watch this low-grade tumor and slowly,
over 10 years, the tumor completely disappeared clinically and by OCT. There
was no systemic lymphoma and no symptoms at any time.

30. References
1. Shields CL, Arepalli S, Pellegrini M, et al. Choroidal lymphoma appears with
calm, rippled, or undulating topography on enhanced depth imaging optical
coherence tomography in 14 cases. Retina 2014; 34:1347-53.
2.Arias JD, Kumar N, Fulco EAM, et al. Seasick choroid: a finding on enhanced
depth imaging spectral domain optical coherence tomography (EDI-OCT) of
choroidal lymphoma. Retina Cases and Brief Reports 2013;7(1):19-22.
3.Mashayekhi A, Shukla SY, et al. Choroidal lymphoma: Clinical features and
association with systemic lymphoma. Ophthalmology 2014;121:342-351.

31. Case 3
Jerry A Shields, MD, Philadelphia, PA
History and findings
A 59-year-old male was found to have peripheral soft drusen. There were no
macular drusen. He came for our opinion.
Examination revealed numerous large and small sub RPE infiltrates in the right
eye, suspicious for vitreoretinal lymphoma. Similar findings were found in the left
eye superiorly and nasally. There were no vitreous cells.
Diagnosis
Primary vitreoretinal lymphoma (PVRL)
Discussion
PVRL is found with CNS lymphoma in 75% cases. CNS lymphoma is found with
PVRL in 20% cases. Mean survival of CNS lymphoma is now about 5 years.
Twice yearly brain MRI and LP are suggested. Treatment with intravitreous

32. methotrexate or melphalan can control the eyes and the CNS lymphoma requires
more aggressive therapy
References
1. Shields CL, Sioufi K, Mashayekhi A, Shields JA. Intravitreal Melphalan for
primary vitreoretinal lymphoma. A new indication for an old drug. JAMA
Ophthalmol 2017;135:815-8.
2. Dalvin LA, Lim LAS, Ancona-Lezama D, et al. Tumor Control and Visual Acuity
Outcomes in Vitreoretinal Lymphoma with and without Sub-Retinal Pigment
Epithelium Infiltration: Analysis of 125 Eyes of 70 Patients at a Single Ocular
Oncology Center. Ophthalmology Retina 2019;in press.

33. Case 1
Vas Sadda, MD, Pasadena/Los Angeles, CA
A 65 year old woman presented complaining of a scotoma in the peripheral
vision of her left eye. She was seen by an ophthalmologist who noticed optic disc
edema in the left eye, but not other abnormalities. She was referred for retinal
evaluation. She denied any antecedent medical or systemic issues. Her medical
history was notable for hypertension and hypothyroidism controlled on
medications. Vision was 20/20 OF and 20/80 OS. There was no APD. Anterior
segment exam revealed mild cataracts but no cell. Fundus exam revealed a
choroidal nevus OD with subtle pigmentary changes. OS revealed multiple white
spots which appeared confluent posteriorly. OCT showed EZ loss in the macula
OS. FAF showed hyperFAF corresponding to these spots. FA showed mild
staining of these regions and some mild disk hyperF. All findings resolved over
the ensuing three months with observation, with recovery of vision to 20/20.
Diagnosis
Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) in an elderly
patient
References
1. Lages V, Mantovani A, Papadia M, Herbort CP. MEWDS is a true primary
choriocapillaritis and basic mechanisms do not seem to differ from other
choriocapillaritis entities. J Curr Ophthalmol. 2018;30(4):281-6. PMID:
30555959; PMCID: PMC6277221.

34. 2. Pereira F, Lima LH, de Azevedo AGB, Zett C, Farah ME, Belfort R, Jr.
Swept-source OCT in patients with multiple evanescent white dot
syndrome. J Ophthalmic Inflamm Infect. 2018;8(1):16. PMID: 30317398;
PMCID: PMC6186261.
3. Onishi AC, Roberts PK, Jampol LM, Nesper PL, Fawzi AA.
Characterization and Correlation of "Jampol Dots" on Adaptive Optics
with Foveal Granularity on Conventional Fundus Imaging. Retina.
2019;39(2):235-46. PMID: 29190245.
4. Gal-Or O, Priel E, Rosenblatt I, Shulman S, Kramer M. Multimodal
Imaging in an Unusual Cluster of Multiple Evanescent White Dot
Syndrome. J Ophthalmol. 2017;2017:7535320. PMID: 28584665; PMCID:
PMC5444036.
5. Joseph A, Rahimy E, Freund KB, Sorenson JA, Sarraf D. Fundus
autofluorescence and photoreceptor bleaching in multiple evanescent
white dot syndrome. Ophthalmic Surg Lasers Imaging Retina.
2013;44(6):588-92. PMID: 24221465.

35. Case 2
Vas Sadda, MD, Pasadena/Los Angeles, CA
48 year old Latino woman with a persistent blurry vision OD for 8 years and
recent blurring of vision OS. History of transverse myelitis one year prior for
which she was treated with steroids; otherwise healthy. Vision 20/50 OD and
20/20 OS. Fundus exam repeals RPE alterations OU (OD/OS) with SRF OU and
some greyish subretinal material OD. FA shows diffuse staining of RPE changes
as well as some pinpoint areas of leakage with progressive dye
leakage/expansion. OCT reveals outer retinal thinning OD with areas of SRF OU.
FAF imaging OD is suggestive of a “gutter-like” area of RPE alteration. Physical
exam suggests moon facies and possible buffalo hump. Laboratory exam
demonstrates elevated 24hr urinary cortisol and elevated ACTH. MRI reveals a
6mm pituitary microadenoma. Trans-sphenoidal resection of adenona reveals an
ACTH secreting tumor. Reduced fluence PDT was applied OD and OS was
observed. SRF fluid resolved OU without recurrence over 5 years.
Diagnosis
Chronic central serous chorioretinopathy associated with Cushing’s Disease
Ddd

36. References
1. Clarke C, Smith SV, Lee AG. A rare association: Cushing disease and
central serous chorioretinopathy. Can J Ophthalmol. 2017 Apr;52(2):e77-
e79. PMID: 28457311
2. van Dijk EH, Dijkman G, Biermasz NR, van Haalen FM, Pereira AM, Boon
CJ. Chronic central serous chorioretinopathy as a presenting symptom of
Cushing syndrome. Eur J Ophthalmol. 2016 Aug 4;26(5):442-8. PMID:
27135093
3. Buelens T, Dewachter A. Bilateral central serous chorioretinopathy
associated with endogenous Cushing's syndrome. J Fr Ophtalmol. 2015
Apr;38(4):e73-5 PMID: 25795625
4. Wang BZ, Saha N. Bilateral multifocal central serous chorioretinopathy in
endogenous hypercortisolism. Clin Exp Optom. 2011 Nov;94(6):598-9.
PMID: 21668499

37. Case 3
Vas Sadda, MD, Pasadena/Los Angeles, CA
63 year old Caucasian female referred for assessment of possible retinal
degeneration. Patient c/o nyctalopia and poor peripheral vision, especially over
past 2-3 months. Vision measured 20/30 OU. Fundus exam showed a relatively
blonde fundus. Few whitish spots noted in both eyes nasal to optic nerve. OCT
shows generalized EZ irregularity OU, but not absent. ERG shows rod > cone
dysfunction. Visual field shows generalized dysfunction. Slit lamp exam reveals a
bitot spot. Patient recalls previous biliopancreatic diversion. Was previously on
fat soluble supplements, but had recently moved and had stopped receiving IM
therapy. Vitamin A level Vit A level: 4 mcg/dL (normal range: 38-98); Vitamin K
and E also reduced.
Diagnosis
Vitamin A deficiency associated retinopathy
References
1. Saenz-de-Viteri M, Sádaba LM. Optical Coherence Tomography
Assessment Before and After Vitamin Supplementation in a Patient With
Vitamin A Deficiency: A Case Report and Literature Review. Medicine
(Baltimore). 2016 Feb;95(6):e2680.

38. 2. Aleman TS, Garrity ST, Brucker AJ. Retinal structure in vitamin A
deficiency as explored with multimodal imaging. Doc Ophthalmol. 2013
Dec;127(3):239-43. PMID: 23900584
3. Kakiuchi D, Uehara T, Shiotani M, Nakano-Ito K, Suganuma A, Aoki T,
Tsukidate K, Sawada K. Mol Med Rep. 2015 Feb;11(2):995-1003.
Oscillatory potentials in electroretinogram as an early marker of visual
abnormalities in vitamin A deficiency. PMID: 25369780

39. Case 1
Richard F Spaide, MD, New York, NY
Macular Aperture with Overlying Macular Hole
A 76 year-old was being treated for macular neovascularization secondary to
AMD. She developed a defect in her retinal pigment epithelium over a
fibrovascular pigment epithelial detachment. This defect is called a retinal
pigment epithelial aperture (Querques G, et al. 2016). She also developed an
overlying macular hole. She underwent a vitrectomy with internal limiting
membrane flap. The macular hole closed, and she had a dramatic improvement
in vision. She subsequently lost vision coincident with atrophy of the overlying
central macula.
Spontaneous Closure of a Macular Hole Associated with Increased Exudation
from Neovascular Age-Related Macular Degeneration
An 82 year-old developed a macular hole, which was adjacent to a fibrovascular
pigment epithelial detachment. His visual acuity was a remarkable 20/40. He had
a sudden increase in exudation with the appearance of subretinal hyperreflective
exudative material that extended to the central macula. This was associated with
the spontaneous closure of the macular hole.

40. Case 2
Richard F Spaide, MD, New York, NY
Headaches
A 32 year-old woman of Egyptian extraction who works in the finance industry
had severe headaches. She went to a neurologist, who did not make a specific
diagnosis, but gave the patient prednisone. She had relief from the headaches
but when the prednisone was stopped, her headaches returned. She went to a
neuro-ophthalmologist, who noticed a serous detachment of the macula in the
left eye and sent to for a retinal evaluation. The patient had a subfoveal choroidal
thickness of 530 µm in the right eye. There was no subretinal fluid. Her subfoveal
choroidal thickness in the left eye was 531 µm. She had subretinal fluid around
the nerve, even nasal to the nerve. She had no other signs or symptoms. She
was diagnosed as having partially treated Vogt Koyanagi Harada disease. She
was treated with 250 mg methyl prednisone followed by prednisone 1mg/kg.
Follow-up 2 weeks later showed a nearly complete flattening of her detachment
and her subfoveal choroidal thickness decreased to approximately 230 µm. After
being treated with corticosteroids she noticed her hearing was much better, even
though she did not notice hearing problems prior to treatment.

41. Case 3
Richard F Spaide, MD, New York, NY
Acute Fovealitis
A 36-year-old male presented with a one-week history of decreased vision and
distortion in the right eye. Ophthalmoscopic examination of the right eye showed
yellow-white punctate opacities in the central fovea. OCT showed numerous,
well-defined, globular, aggregated, hyperreflective lesions that corresponded to
the visible opacities. The largest diameter was 500 µm and, of interest, is the
material appeared to extend above the level of the internal limiting membrane,
reaching a maximal height of 50 µm. There was a discontinuity of the
interdigitation and ellipsoid zones in the central fovea. Over three weeks, the
patient´s intraretinal hyperreflective aggregates resolved as did the interdigitation
and ellipsoid defects and the visual acuity improved to 20/20. No abnormalities of
the choriocapillaris flow was detected using OCT angiography. The lesion
resolved without pigmentary change.
Acute retinal pigment epitheliitis is a rare and transient macular disorder first
described by Krill and Deutman in 1972 when they reported six patients with “an
unusual subtle inflammation of the retinal pigment epithelium” that appeared to
be benign and self-limited.1
In the acute phase the fovea may have a yellow-
white appearance, but over time there is pigment stippling surrounded by
hypopigmented halos. Optical coherence tomography (OCT) shows two main
groups of findings.2-6
In a more modest form of involvement there is loss of
visibility or blurring of the interdigitation and ellipsoid zones because of a poorly
defined haze extending up from the level of the retinal pigment epithelium (RPE)
toward the external limiting membrane. In the second group, there are one or
more plumes of hyperreflectivity extending from the level of the ellipsoid zone
through the outer nuclear layer and Henle’s layer of the fovea. These eyes
frequently have a hyporeflective gap in the interdigitation zone in addition to the
abnormalities of the outer retina seen in the milder cases. Resolution of the acute
phase of the disease can be followed by persistent defects in the ellipsoid zone.
Although the findings may suggest acute retinal pigment epitheliitis, this patient
had findings not previously reported including multiple well defined globular
hyperreflective lesions in the fovea that extended above the internal limiting
membrane. The configuration of the hyperreflective deposits, the lack of
pigmentary change, and the absence of OCT angiographic findings of flow
problems in the choriocapillaris argue against a primary retinal pigment epithelial
or choriocapillaris abnormality as the fundamental cause of the disease. The
name acute fovealitis is suggested.
References

42. 1. Krill AE, Deutman AF. Acute retinal pigment epitheliitus. Am J Ophthalmol.
1972 Aug;74(2):193-205.
2. Merkoudis N, Granstam E. Acute retinal pigment epitheliitis: optical coherence
tomography findings at onset and follow-up. Acta Ophthalmol. 2013;91(1):e84-5.
3. Cho HJ, Han SY, Cho SW, et al. Acute retinal pigment epitheliitis: spectral-
domain optical coherence tomography findings in 18 cases. Invest Ophthalmol
Vis Sci. 2014;55(5):3314-9.
4. Iu LPL, Lee R, Fan MCY,et al. Serial spectral-domain optical coherence
tomography findings in acute retinal pigment epitheliitis and the correlation to
visual acuity. Ophthalmology. 2017;124(6):903-909.
5. Hall EF, Ahmad B, Schachat AP. Spectral-domain optical coherence
tomography findings in acute retinal pigment epitheliitis. Retin Cases Brief Rep.
2012;6(3):309-12.
6. De Bats F, Wolff B, Mauget-Faÿsse M, et al. B-scan and "en-face" spectral-
domain optical coherence tomography imaging for the diagnosis and followup of
acute retinal pigment epitheliitis. Case Rep Med. 2013;2013:260237.