Atlantic Coast Retina Club 2023: Mystery Cases

Saagar Pandit, MD
Wills Eye Hospital
Philadelphia, PA

Dr. Miguel Vasquez Membrillo presented on an interesting case of a 72 year old white female referred to the ocular oncology service at Wills Eye Hospital for evaluation of a choroidal lesion of the right eye. She had a history of basal cell carcinoma and skin melanoma status-post excision. On initial presentation, the lesion was dome-shaped, well-circumscribed, with a ring of brown pigmentation. On SD-OCT there was subretinal hemorrhage appreciated. Interestingly, the lesion spontaneously regressed over the course of several months. This was interesting case of peripheral exudative hemorrhagic chorioretinopathy masquerading as a possible malignancy. Dr. Shields did note that: “Remember, though in this case a diagnosis of PEHCR was most likely, a melanoma can spontaneously involute as well. A choroidal melanoma can disappear and then later recur. This is something we should all be aware of.”

Dr. Garyson Armstrong from Massachusetts Eye and Ear Infirmary presented a case of a 36 year-old Hispanic male presenting with photopsias in dim-lit settings for several years. His testing demonstrated bilateral pigmentary changes on fundus imaging, bilateral central scotoma on Humphrey visual-field testing, SD-OCT with subtle EZ attenuation of both eyes, multi-focal ERG with bilateral central depression, and full-field ERG with slightly abnormal cone function in the left eye. Genetic testing revealed a mutation in PRDM13, which a presumed diagnosis of North Carolina Macular Dystrophy!

Subsequently, Dr. Hana Mansour from Wills Eye Hospital presented a case of a 23-year old female with photopsias of both eyes. Testing demonstrated hypopigmented lesions bilaterally, optic nerve edema and hyperemia, fundus autofluorescence with hyper-autofluorescent lesions in both eyes, SD-OCT with bacillary layer detachments in the left eye, and fluorescein angiography findings of early hypofluorescence and mid-to-late hyperfluorescence. Though a presumed diagnosis of AMPPE was made, Dr. Yannuzzi commented “This could be another form of immune-mediated response. An ICG would have been helpful here.”

From here, Mohamed Sylla, a third year medical student from SUNY Downstate Medical Center presented on a case of a 29 year old Pakistani female with hand motions vision in both eyes, with progressively worsening vision as of childhood. The patient’s family history was remarkable for a maternal uncle with Leber’s Congenital Amarousis, and consanguinity of her parents. Imaging was significant for intra-retinal pigment deposits, bone-spicules, attenuation of the vessels, FAF with hypo-autofluorescent lesions in a radial pattern and in the macula, SD-OCT with loss of inner retinal layers, full-field ERG with diminished cone and rod responses. Genetic testing revealed a homozygous mutation in ABCA4, and a diagnosis of Group III Stargardt’s disease was made given rod and cone dysfunction. Interestingly, this form of Stargardt’s is only found in 17% of patients with Stargardt’s disease.

Subsequently, Dr. Devin Cohen, a third year ophthalmology resident from Scheie Eye Institute presented a case of a 45 year-old female referred for routine examination. Imaging of the right eye demonstrated inferotemporal enlarged arteries and veins, RPE changes, and exudation. OCT-angiography demonstrated a hyper-reflective plexus crossing over the raphe and FAZ at the level of the superficial capillary plexus. In discussion with the audience, a presumed diagnosis of congenital retinal macrovessel was made.

Dr. Samyuktha Guttha, a PGY2 resident from New York University then presented her case of a 39 year old female with decreased vision of both eyes for the past one month. Imaging demonstrated multifocal hyper-autofluorescent lesions, subfoveal blebs of subretinal fluid and thickening of the outer segment photoreceptors on SD-OCT. The patient had been previously diagnosed with “central serous” by an outside provider and started on eplrenone, with no improvement in findings on imaging. Given multiple bilateral multifocal serous detachments, accumulation of subretinal vitelliform material, no PEDs or leakage on fluorescein angiography to suggest CSR, a diagnosis of idiopathic acute exudative vitelliform polymorphous maculopathy was made. Dr. Guttha highlighted the importance of performing genetic testing on these patients and also ruling out malignancy given these constellation of findings can be a paraneoplastic phenomenon—both of which were done for this patient. Of course, Dr. Jose Pulido exclaimed the diagnosis fairly quickly. No stumping him!

Dr. Jared Sokol, a PGY4 resident from Massachusetts Eye and Ear Infirmary presented his case of a 26 year old female with decreased vision in the right eye. Imaging was significant for a superonasal large white lesion in the right eye with intraretinal hemorrhage and a net of blood vessels overlying it. SD-OCT of the lesion demonstrated vitreous cells, inner retinal thickening, intra-retinal and subretinal fluid, hypo-autofluorescence of the lesion, B-scan with an elevated lesion which was hyperechoic in nature, and a fluorescein angiography showing early filling of the vessels that are on top of the lesion with surrounding blockage. On further review of systems, the patient had white spots on her skin and had prior seizures. A presumed diagnosis of an exudative retinal astrocytic hamartoma was made in the setting of tuberous sclerosis! The patient received anti-VEGF injections in the right eye with improvement in the exudation, intra-retinal, and sub-retinal fluid. Dr. Shields found this to be a fascinating case which she originally thought might have been inflammatory in nature given the exudation.


Lastly, Dr. Anand Gopal, a first year vitreoretinal fellow from Wills Eye Hospital, closed off this session presenting a fascinating case of a 61 year old Asian female with painless decreased vision in the left eye for the past two days. Imaging was significant for subretinal hemorrhage and bullous exudative retinal detachment in the inferior quadrant, SD-OCT with subretinal hyper-reflective material and subretinal hemorrhage, widefield fluorescein angiography with blockage from subretinal hemorrhage and blockage from the detachment, B-scan ultrasonography with a large 18 x 12 millimeter echodense mass, and MRI brain and orbits with and without contrast demonstrating a pre-contrast hypointense signal and progressiveenhancement on post-contrast images. The patient’s past medical history was significant for papillary thyroid cancer status-post thyroidectomy and radioactive iodine 15 years prior to her presentation. A fine-needle aspiration biopsy was performed and was positive for metastatic carcinoma. Unfortunately, on further testing this patient had metastatic disease throughout her body (lymph nodes, bone, lung, and liver) and co-management with the oncology service was initiated. A diagnosis of choroidal metastasis from papillary thyroid carcinoma was made, a fairly rare diagnosis.