Jonathan Noonan, MD
Columbia University, New York, NY
After a thought-provoking day of resident and fellow case presentations, Friday morning heralded the onset of the attending case presentations.
Session 1: Tumors & Oncology
Moderators: David H. Abramson, MD; William F. Mieler, MD; Carol L. Shields, MD
The first session of attending case presentations highlighted some diagnostic challenges in ocular oncology, as well as recommendations for investigations and management. Nitish Mehta, William Mieler and Dimosthenis Mantopoulos presented interesting cases of vitreoretinal lymphoma. A frequent discussion point was the low sensitivity of vitreous biopsy to make the diagnosis and that retinal or subretinal biopsies were often required. The MYD88 L265P mutation was highlighted as a sensitive marker for vitreoretinal lymphoma. Cell-free DNA (cfDNA) was used by Jasmine Francis and David Abramson to solve a diagnostic dilemma. The test revealed a case of amelanotic melanoma and differentiated between Coats disease and retinoblastoma, respectively. Emily Chew provided an update on the effects of belzutifan on juxtapapillary retinal hemangioblastoma in Von Hippel-Lindau disease. Scott Walter presented a case of bilateral diffuse uveal melanocytic proliferation (BDUMP) in a patient with metastatic ovarian cancer on immunotherapy. Ivana Kim described a mystery case of an amelanotic juxtapapillary tumour that evaded a firm diagnosis despite a fine needle aspiration biopsy. J. Fernando Arevalo presented a case of uveal lymphoid hyperplasia, which despite being a low-grade neoplasm often responds to a combination of antibiotics and steroids. Finally, Carol Shields described how a radioactive plaque can be applied to the external sclera accurately using tissue glue (Tisseel) in patients with dangerously thin sclera.
Session 2: Vitreoretinal Surgery
Moderators: J. Fernando Arevalo, MD, PhD, FACS, FASRS; Dean Eliott, MD; Yoshihiro Yonekawa, MD
The second session of the morning was on vitreoretinal surgery. Ishrat Ahmed described a case of traumatic macular hole with submacular hemorrhage that was treated with a vitrectomy. It prompted a discussion on the role of observation versus surgery in these cases. John Miller showed a case of uveal effusion syndrome and non-arteritic ischemic optic neuropathy in an eye with nanophthalmos. The eye was treated with oral steroids and surgery to create two scleral windows. Osama Sabbagh presented a case of bilateral tractional detachments in a diabetic patient with a history of methamphetamine use. Subsequent imaging revealed Moyamoya disease. The patient was treated with bilateral vitrectomies and removal of the tractional membranes. Matthew Starr showed that corneal astigmatism can be treated with a toric scleral-sutured intraocular lens with his case of a subluxed colobomatous lens with chorioretinal coloboma. John Thompson again highlighted the diagnostic challenges in vitreoretinal lymphoma with his unusual case of posterior vitreous detachment and hemorrhage. His patient’s disease was diagnosed on a vitreous biopsy after a period of observation. Yoshihiro Yonekawa presented a case of Coats disease associated with a tractional retinal detachment and full-thickness macular hole. The patient was successfully treated with a vitrectomy, membrane removal and gas tamponade. The last case of the second session was delivered by Michael Engelbert, who used autofluorescence to show that his patient’s retinal detachment was improving spontaneously. After the subretinal fluid retracted close to the atrophic hole, he was able to perform a laser retinopexy.
Session 3: Macular Disease
Moderators: Itay Chowers, MD: Talia R. Kaden, MD; Adnan Tufail, MD, FRCOphth
After the first break, Adnan Tufail presented a case of ranibizumab-resistant polypoidal choroidal vasculopathy (PCV) that responded to faricimab. This prompted a discussion on the role of angiopoietin-2 in the pathogenesis of PCV. Itay Chowers described an unusual case of X-linked retinitis pigmentosa in a 68-year-old female with a heterozygous RPGR mutation, which was initially misdiagnosed as geographic atrophy. David Brown described the “hot nerve sign” in patients treated with brolucizumab and suggested that OCT of the retinal nerve fiber layer can be used to detect early optic nerve inflammation. Ravi Parikh presented a case of acute macular neuroretinopathy (AMN) in a patient on high-dose isotretinoin. The case highlighted the difficulty in proving causation in such cases, due to the high number of people on isotretinoin and the rarity of AMN. Dean Eliott had a diagnostic challenge in his case of potential internal limiting membrane dystrophy with neovascularization, which was treated with intravitreal bevacizumab. Talia Kaden had most of the audience stumped with her presentation of two brothers with Mainzer-Saldino syndrome with mutations in the IFT140 gene. The brothers had nyctalopia with a retinopathy resembling retinitis pigmentosa, chronic kidney disease and polydactyly. Anat Loewenstein presented a patient with high myopia (-15 D) and bilateral retinal hemorrhages that preceded lacquer cracks. Adnan Tufail presented an atypical case of angioid streaks and secondary choroidal neovascularization due to abetalipoproteinemia. Lawrence Yannuzzi illustrated a case of multiple evanescent white dot syndrome (MEWDS) after viral infection and accepted the description of secondary MEWDS in such cases. The last presentation of the macular session was delivered by Philip Ferrone, who highlighted the dangers of handheld laser pointers with his case of a full-thickness macular hole in a young patient. His patient required a vitrectomy and internal limiting membrane flap with gas tamponade. These cases are less likely to close spontaneously than holes due to mechanical trauma, so surgical intervention is often required.
Session 4: Medical Retina & Others
Moderators: Neil M. Bressler, MD; Daniel B. Roth, MD; SriniVas R. Sadda, MD
The last session before lunch was relatively short with only five cases. Nicholas Yannuzzi presented a case of frosted branch angiitis due to HTLV-1-associated T-cell lymphoma. This case once again highlighted the unusual ways in which vitreoretinal lymphoma can present, as well as the diagnostic and management challenges. Audina Berrocal described a case of an infant with Coats plus syndrome with a mutation in the CTC1 gene. The patient was treated initially with intravitreal bevacizumab and laser photocoagulation, then systemic bevacizumab for the systemic manifestations of the disease. Daniel Roth presented a case of a 16-year-old male with NF1 and developmental delay with an unusual exudative retinal detachment. David Sarraf presented a 72-year-old African American male with monoclonal gammopathy of unknown significance (MGUS) who developed a multifocal paravascular vitelliform retinopathy. The last case of the morning was delivered by Stephen Tsang. He described a 44-year-old female with X-linked retinitis pigmentosa due to a mutation in the RPGR gene that was missed on initial whole exome sequencing. These mutations are important to identify, as gene therapy may be an option for these patients in the near future.