Atlantic Coast Retina Club 2023: Mystery Cases 3

Hana A. Mansour, MD
Wills Eye Hospital
Philadelphia, PA

At Atlantic Coast Retina Club, a number a of excellent trainee cases from fellows across the country were presented. Here we review several of the highlights from Friday’s session.

Day two of the Atlantic Coast Retina Club 2023 in Boston started with Dr. Stephanie Choi, PGY-4 at NYU Langone Health who presented a case of a 61-year-old female with a 10-day history of bilateral blurry vision. Vision was CF OD and 20/70 OS. No cells were noted in the anterior chamber nor in the vitreous. Fundus image of both eyes showed large elevated hypopigmented lesions with subretinal fluid. Fundus autofluorescence showed corresponding hyperautofluorescence. OCT revealed serous retinal detachments and bacillary layer detachments with subretinal hyperreflective deposits and RPE thickening. Ultrasound showed multifocal hyperechoic choroidal masses.

It was revealed that patient had thyroid cancer s/p thyroidectomy years ago. Work up showed elevated LFTs and LDH. She had extensive metastatic disease of the liver, retroperitoneum, pelvic LNs and mediastinal LNs on CT and PET scans. MRI brain showed thickening and enhancement of the choroid. Liver biopsy was positive for high grade diffuse large B cell lymphoma. Patient underwent six months of chemotherapy (R-CHOP) as well as radiation to the bilateral orbits for secondary choroidal lymphoma. Vision improved to 20/20 in both eyes two months after treatment initiation. This was an interesting case of a systemic lymphoma metastatic to the choroid masquerading as acute VKH. Treatment includes systemic chemotherapy and local treatment depending on the extent of involvement.

Dr. Yariv Keshet presented the second case of the day: “What is the hole story.” A 36-year-old male with bilateral chronic loss of vision and intermittent floaters, presented with macular hole retinal detachment OD with 20/400 vision. Radial choroidal folds could be seen through the hole and OCT showed multiple cysts, vitreous detachment, and the vitreous collapsing into the hole. Fundus autofluorescence showed alternating hyper and hypo autofluorescence in the periphery.

Left eye had subretinal fluid and a serous detachment and a thick choroid on OCT. There was no obvious leakage on ICG angiography. The patient was not myopic nor had a history of trauma. Genetic testing revealed a pathogenic mutation in BEST 1 gene. This was an interesting case of macular hole-associated retinal detachment as a rare complication of Best vitelliform macular disease.

Next, Dr. Tianyu Liu from Scheie Eye Institute, University of Pennsylvania, presented a case of a 33-year-old male, previously healthy, who presented with blurry vision in left eye noted over the past week. Right eye had 20/20 vision, normal IOP with no cells in the anterior chamber nor vitreous. On dilated exam he had disc edema, peripapillary folds, perivenous sheathing, and candle wax drippings-like exudates. Late phase FA showed leakage from the disc plus faint segmental hypo fluorescence (blocking) in areas of exudation, and small vessel leakage. OCT showed outer retinal fluid extending from the disc with hyperreflective foci.

The left eye had APD, decreased color vision, trace vitreous cells and 20/350 vision. Disc edema, peripapillary folds, and candle wax drippings-like exudates were seen on dilated exam. Late phase FA demonstrated leakage of the disc, small vessel leakage, and blockage in areas of exudates. OCT showed foveal SRF and outer retinal fluid and evidence of vitritis.

On further history, the patient reported experiencing peripheral scotomas in OS three months prior and in OD one month prior that resolved spontaneously. Extensive inflammatory and infectious work up were normal. MRI brain showed a mass along with faint enhancement of the left pre chiasmatic optic nerve and bilateral enhancement of the optic nerve heads. LP revealed a normal opening pressure and lymphocytic pleocytosis. Biopsy of the mass showed CNS germinoma. Patient underwent chemotherapy (carboplatin and etoposide) and one month later vision improved to 20/70 OS.

Dr. Liu revealed that this was an interesting case of CNS germinoma-associated uveitis with disc edema, vitritis and candle wax dripping exudates.

Next, Dr. Cong Phan, PGY-3 at Darmouth Hitchcock Medical Center presented an 87-year-old Caucasian man with progressive bilateral hazy vision over the past three years. His history includes anemia and pulmonary embolism in 2016. He had resection of anal SCC resection in 1998 and MOHS for skin SCC in 2017 which required resection and chemotherapy. He had undergone bilateral cataract surgery and vision is 20/40 OD and 20/50 OS. Ocular exam was unremarkable, except for some pallor of the optic discs. OCT through the macula OU showed normal inner and outer retinal layers with blunting of the foveal contour. Fundus autofluorescence revealed several hypo auto fluorescent areas along the temporal arcade OD and fluorescein angiography was normal. Optic nerve OCT showed thinning in the optic nerves OU. The patient had high fixation losses on visual field testing and decreased foveal sensitivity. He also had a central scotoma in the left eye.

Given his history of cancer, autoimmune retinopathy was on the differential, so testing was done and came back negative for anti-recoverin antibodies but positive for five anti-retinal antibodies (including carbonic anhydrase II, enolase, tubulin and HSP60). ERG showed normal rod and cone responses and significant depression of foveal and macular amplitudes on multifocal ERG. Brain MRI, CT chest, and PET scan were negative for malignancy.

The patient was started on oral steroids, but then he then recalled that he had small bowel resection for recurrent small bowel obstruction! Laboratory workup was done: B12 levels were low, while methylmalonic acid and homocysteine levels were significantly high.

Patient was diagnosed with B12 deficiency and subsequently, B12 deficiency optic neuropathy.

Dr. Meena Zakher, PGY-3 at New York Eye and Ear Infirmary of Mount Sinai presented: “When was your last DFE?”. This is a case of a 28-year-old female with keratoconus s/p PK in 2017, who presented with foreign body sensation OD. VA 20/25 OU, no rAPD, normal IOP, full motility OU. No vision changes and no ocular complaints. She was found to have a loose suture that was removed on slit lamp. When asked when was the last time she had a dilated eye exam, she said it has been two to three years. Wide field fundus photos showed creamy yellow white vessels OU. Fundus autofluorescence and OTCA were normal. OCT macula showed dilated engorged vessels with hyperreflective material and back shadowing. Laboratory work up revealed triglycerides level of 5000 (NL < 150 mg/dL) and cholesterol level in the thousands (NL < 200 mg/dL). Patient was lost to follow up for one week and it turned out she was in the ICU with acute pancreatitis!

Patient was diagnosed with lipemia retinalis. Retinal changes improve and sometimes completely normalize once serum triglyceride levels normalize. Given this is an asymptomatic and severe life-threatening manifestation, a question was raised in the audience on when should we order lipid panel in young healthy adults with no family history of pancreatitis, hyperlipidemia or heart attacks.
Dr. Fernando Arevalo made a great point that these patients should be sent to the emergency room similar to CRAO patients.

Dr. Jacques Bijon, from the Vitreous Retina Macula Consultants of New York, presented a 38-year-old female, born in the Dominican Republic who presented with the complaint of recent acute vision loss in the right eye with no associated pain. Her past medical history includes PCOS and hypothyroidism. Ocular examination was within normal limits. Vision was 20/40 OD and 20/20 OS. Ultrawide field fundus photo OD showed whitish subretinal infiltrates with exudates and retinal detachment. SS-OCT OD showed subretinal and intraretinal fluid with thickening of the choroid. A bacillary layer detachment was noted along with multiple choroidal masses in a dome shaped configuration giving a lumpy bumpy appearance. These lesions were hyperfluorescent on early and late ICG angiography. Dr. Jose Pulido was suspicious of a choroidal granuloma! No inflammation was noted in the anterior chamber or the vitreous. Testing was negative for Lyme disease and syphilis but came back positive for TB! The patient was diagnosed with multifocal tuberculous choroiditis. She was started on the RIPE regimen for treatment of tuberculosis (Rifampin, isoniazid, pyrazinamide and ethambutol). On two-months follow up, OCT showed almost complete resolution of the SRF.

Next, Dr. Saagar Pandit, first year retina fellow at Wills Eye Hospital, presented a case of a 63-year-old Caucasian female who presented with one week history of floaters and hazy vision in the left eye. Vision was decreased to 20/80 in this eye with 1+ vitreous cells. (Right eye: normal exam, 20/20 vision). Widefield pseudo-color fundus image of the affected eye showed multifocal hypopigmented lesions in the posterior pole that also appeared on fundus autofluorescence as hyperautofluorescent lesions. OCT macula of the left eye revealed ellipsoid zone attenuation nasally and sub-foveally and ellipsoid zone disruption temporally. Fluorescein angiography showed disc leakage and early hyper fluorescence with a progressive increase in intensity without expansion in size, consistent with staining. Laboratory work up (including CBC, QuantiFERON, ACE) was negative, and chest x-ray was normal. On further history, she had breast cancer s/p mastectomy years ago and had received Pfizer Omicron COVID-19 booster vaccine one week prior to presentation with this MEWDS-like posterior uveitis. The diagnosis of MEWDS was thus made, although this 63-year-old female is not the typical young, myopic MEWDS patient with a viral prodrome. She was started on 50 mg prednisone daily and prednisolone acetate QID OS. Improvement was noted on two-weeks follow up (vision 20/40). Dr. Pandit raised an important question: do we need to defer future COVID vaccinations in certain patients susceptible to such reactions? No such guidelines are available to date. Proceeding with subsequent vaccinations or boosters is currently based on a case-by-case decision, depending on the severity of the MEWDS post vaccination, whether it spontaneously resolved or required treatment, and weighing all possible risks and benefits.

Dr. Patrick Murtagh from Royal Victoria Eye and Ear Hospital in Dublin, Republic of Ireland presented a case of a 66-year-old female, previously healthy, who presented with four months history of flashes and floaters in the left eye. Vision was 20/20 in both eyes with a normal eye exam. She was found to have a PVD OS. Two weeks later, she returned with the complaint of decreased vision in the same eye: vision was 20/40, with vitritis and multiple pale coalescent chorioretinal lesions seen on fundus exam. Widefield fundus photos showed chorioretinal atrophy with multiple coalescent lesions in the macula OS. Fundus autofluorescence revealed areas of patchy hyper autofluorescence in the macula. Fluorescein angiography at 4 minutes showed disc hyper fluorescence, areas of pinpoint leakage and staining, patchy choroidal thinning and nonperfusion temporally. OCT macula OS showed multiple areas of sub-RPE hypo reflective material, suspicious for sub-RPE infiltrates. The audience was suspicious for vitreoretinal lymphoma. Uveitic work up was negative, MRI brain with contrast showed no abnormalities. However, cytology of cells from the vitreous confirmed the audience’s suspicion: cells were CD20 positive. Interleukin (IL)-10/IL-6 ratio was elevated. This was indeed a primary vitreoretinal lymphoma.

Last but not least, the first session of the day ended with Dr. Vijitha S. Vempuluru, research fellow in ocular oncology at Wills Eye Hospital, who presented “Dilemmas of disc and detachment”: A case of a four-month-old Caucasian boy brought by his mother because she noticed he has a smaller right eye since birth. Pregnancy and birth were uneventful. He was able to fix and follow light OU, but the right eye was visibly smaller, with a smaller corneal diameter compared to the left eye and 1 mm ptosis. No strabismus nor iris coloboma were noted. Fundus photo OD showed retinal folds extending from the nasal edge of the optic disc with underlying SRF and RPE changes inferiorly. OCT optic nerve showed a very deep cup and SRF. Axial length was 15.6 mm OD versus 17.8 OS. Patient was observed. Four months later, he was noted to have a total retinal detachment involving the fovea. Observation was also recommended. Three months later, his detachment has resolved! This patient had morning glory syndrome with retinal detachment and subsequent spontaneous resolution of the detachment. Dr. Carol Shields pointed out that subretinal fluid seen in patients with morning glory disc anomaly can be observed because it can resolve spontaneously.