Melissa Yuan, MD
Mass Eye and Ear, Boston, MA
ACRC Trainee Session #2
The first afternoon of ACRC continued with more exciting trainee cases, moderated by Drs. Emily Chew, Itay Chowers, and Philip Ferrone.
We saw several interesting cases of retinal vasculopathies. Starting off the session was Dr. Claudia Fossataro (UCLA) who shared a case with multimodal imaging of arterial occlusion complicated by CME. Important take home points were that acute and chronic CRAO can be complicated by CME and that migraine is associated with increased risk of CRAO. Dr. Michael Yu from Wills Eye showed a case of ocular ischemic syndrome caused by aortic arch syndrome after initial head and neck vessel imaging was negative. Dr. Ned Lu (Mass Eye and Ear ) presented on Kikuchi Fujimoto disease-associated ophthalmic artery occlusion and occlusive retinal vasculitis in a pediatric patient, with angiographic reperfusion seen after steroid and rituximab initiation. Finally Dr. Hana Mansour (Wills Eye Hospital) presented a case of Behcet’s disease that initially presented with unilateral ocular involvement, with subsequent development of aphthous, skin, and genital ulcers.
On the theme of genetics, we saw a case of autosomal dominant optic atrophy 13 due to a mutation in SSBP1 presenting with a C-shaped autofluorescence (Dr. Eugene Kang from Columbia) and an autosomal recessive macular dystrophy associated with a CDHR1 mutation (Jorge Pincay from Columbia). Dr. Victoria Ly (UTSW) presented a pediatric case of primary hyperoxaluria type 1 (PH1) retinopathy, an autosomal recessive disorder, complicated by CNVM. In PH1, calcium oxalate crystals can deposit in all segments of the eye and is irreversible even with early treatment (liver-kidney transplantation). Finally, Dr. Da Meng (Mass Eye and Ear) presented a case of Aicardi syndrome diagnosed on routine eye exam for vigabatrin toxicity. When she displayed the fundus photos, Dr. Yannuzzi immediately asked for corpus callosum imaging which nailed the diagnosis.
We also learned about a case from Columbia (Dr. Lauren Yeager) of metastatic uveal melanoma filling the eye which was only detectable on MRI, and Dr. Carol Shields reminded us that MRI can be an important imaging tool in ocular oncology when the B-scan is not helpful. And finally, the session would not be complete without a strange intraocular surprise: Dr. Stephanie Choi (OCB/Tufts) showed a curious case of intraocular eyelash presenting as intraocular inflammation without a history of trauma, and the audience also added spider or caterpillar cilia to the differential.
ACRC Trainee Session #5
As the afternoon went on, we then transitioned to trainee session #5 which was moderated by Drs. Dean Eliott and Jose Pulido.
This session was full of interesting intraocular lesions. First up was Dr. Prithvi Ramtohul from France, who presented on a pediatric case of metastatic CNS germinoma with retinal periphlebitis and optic nerve edema. Candle-wax drippings resembled a sarcoidosis-like reaction, thought either to be a paraneoplastic phenomenon due to the pineal gland expressing retinal antigens or direct infiltration of the optic nerve and retina. Dr. Megan Steinkerchner (Mass Eye and Ear) presented a case of an amelanotic fundus lesion that was ultimately diagnosed on pathology as a clear cell sarcoma of the eye, with a negative metastatic workup, which has never been published before. Dr. Rabia Karani (Wilmer) presented a pediatric case of posterior nodular scleritis and highlighted that this entity is often associated with systemic disease, that oral steroids and long-term therapy are often needed and that it is an important masquerade for other choroidal lesions. Dr. Olufemi Adams (Wills) then shared a fascinating case of Hardikar syndrome, diagnosed in a teenage patient with hypopigmented lesions of both eyes. Dr. Pulido noted that KIF11 mutations, Aicardi syndrome, Zika virus, and Hardikar can cause these types of lesions.
Dr. Neeket Patel (Rutgers) then shared a case of BDUMP. There was a lively discussion about the treatment, such as plasmapheresis, and Dr. Shields mentioned that there has been a published case demonstrating a response to checkpoint inhibitor pembrolizumab. This patient unfortunately ended up hand motions and NLP, passing away soon thereafter, highlighting that BDUMP has a poor prognosis for life expectancy and can precede the diagnosis of the systemic malignancy.
Dr. Jennifer Adeghate (Columbia/MEETH) presented on outer retinal changes in a patient who ended up having mutations in both PRPH and ABCA4, which has only been reported once. Dr. William Foulsham (Mass Eye and Ear) finished up the session with a mystery case of a choroidal mass associated with unilateral scleral icterus which ended up being a spontaneous suprachoroidal hemorrhage in the setting of severe hypertension.
