Terry Hsieh, MD, PhD
University of California, Irvine
Irvine, CA
Drs. Amani Fawzi and Jose Pulido moderated the medical case conference and added a high yield pearl at the end of each case to consider in these patients.
Dr. Sruthi Arepalli, MD, presented a case of a middle-aged woman who had continuous follow up in the same clinic with what was determined to be an inherited retinal disorder (IRD), but further investigation revealed ocular syphilis.
Pearl(s): IRDs often have a “hill” of autofluorescence changes compared to the diffuse stippling seen in infectious cases. Furthermore, rates of syphilis are on the rise and despite a national shortage of penicillin, these cases should be treated as neurosyphilis.
Dr. Corrina P. Azarcon, MD, showed a case of relentless progression of von Hippel-Lindau (VHL) disease with vision loss despite multiple treatment modalities. She was started on a new drug and had a good response.
Pearl(s): Belzutifan is a hypoxia inducible factor (HIF) inhibitor approved for treatment of VHL in adults. An open-label study on 61 patients demonstrated regression of the tumors with treatment, which is especially promising for optic nerve lesions that lack good treatment modalities.
Dr. Andrew J. Barkmeier, MD, was referred a case of suspected hydroxychloroquine (HCQ) toxicity (used for lupus) in a middle-aged woman with diabetes and worsening cognitive decline. The exam demonstrated atypical perifoveal RPE loss with corresponding 10-2 visual field scotomas. Further evaluation showed a mutation causing mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
Pearl(s): Genetic testing may not include mitochondrial panels. Maternally inherited diabetes and deafness (MIDD) and MELAS may lie on a spectrum of disease.
Dr. Nishikant J. Borse, MS, FMRF, FASRS presented a rare case of an elderly male with known choroideremia with sudden vision loss. This patient had subretinal hemorrhage and a corresponding CNVM. This CNVM was very responsive to anti-VEGF treatment.
Pearl(s): Choroideremia is rare but can be complicated by CNVM and reports of anti-VEGF are effective in their treatment.
Dr. Jose J. Echegaray, MD was referred a patient with a history of B-ALL with recurrent ocular pain and blurry vision presenting with NVI and nodularity of the iris. FNA biopsy demonstrated a high percentage of lymphoblasts confirming direct leukemic infiltration. The patient was treated with chimeric antigen receptor T-cell (CAR-T) treatment.
Pearl(s): CAR-T can be a good treatment of ocular involvement for certain cancers, though it can cause inflammatory side effects including uveitis.
Dr. Odette M. Houghton, MD presented a case of a 56-year-old female with a new-onset hyperopic shift, dense vitritis, and clusters of white infiltrates with hemorrhage. The patient underwent a vitreous biopsy, which showed plasma cells, confirming the diagnosis of intraocular extramedullary multiple myeloma, and was subsequently treated with external beam radiation therapy.
Pearl(s): Choroidal involvement is not uncommon in extramedullary multiple myeloma, but retinal involvement is a poor prognostic indicator.
Dr. Jaclyn L. Kovach, MD, FASRS, described a case series of Bardet Biedl (BB) syndrome. The series included siblings with pigmentary retinopathy, obesity, and a history of polydactly.
Pearl(s): Patients with BB begin to gain weight in puberty, which causes multiple psychosocial effects. There is an FDA approved drug, setmelanotide, specifically for this weight management.
Dr. Danny A. Mammo, MD discussed a young female presenting with unilateral decreased vision. Bilateral retinal findings of flame hemorrhages, cotton wool spots, and a unilateral macular star were noted. Her blood pressure was >200/100 and workup was consistent with a pheochromocytoma.
Pearl(s): Check blood pressure in patients in the clinic. Acute hypertensive choroidopathy may not show classic signs of Siegrist streaks and Elschnig spots may be hypopigmented and become more pigmented with time.
Dr. Shravan V. Savant, MD, had a 30-year-old male with diffuse peripheral hemorrhages in the right eye and nonperfusion of the left eye with unusual skin lesions. Laboratory workup was positive for antiphospholipid antibodies and the skin lesions showed Mycobacterium leprae consistent with Hansen disease.
Pearl(s): Armadillos are a reservoir for M. leprae. Treatment of M. leprae can cause an autoimmune reaction from lysis of the organisms.
Dr. Rehman Siddiqui, MBBS, MSc, FRCS(Ed), FRCOphth, FACS, FASRS presented a case of a 7-year-old female with nyctalopia, skin lesions, and delayed development. The exam showed a glistening conjunctiva, attenuation of retinal vessels and a pale optic disc. An ERG showed flat responses. Coupled with mottling on fundus autofluorescence, these findings were consistent with a diagnosis of Abetalipoproteinemia
Pearl(s): Abetaliproproteinemia can be helped with a low-fat diet and fat-soluble vitamin supplementation. Increased prevalence of bariatric surgery and fad diets can present with similar findings.
Dr. Thamolwan Surakiatchanukul, MD, showed a case of an elderly male with metastatic prostate cancer with vitreous floaters and chorioretinal scars. A diagnostic vitrectomy was performed and confirmed the diagnosis of bilateral miliary toxoplasmosis and retinochoroiditis in a HIV-negative patient.
Pearl(s): For toxoplasmosis, an anterior chamber tap can provide good diagnostic yield. Many physicians start with trimethoprim/sulfamethoxazole as first-line therapy, but intravitreal clindamycin can be considered if macular involving.
Dr. Aristomenis Thanos, MD, described a patient with glaucoma secondary to Sturge Weber syndrome with anomalous vessels and significant leakage on ICG. OCT showed significant choroidal thickening and OCT-A also demonstrated enlarged collaterals that correlated with scattered vascular anomalies on MRI/MRV.
Pearl(s): Sturge Weber patients can develop glaucoma and should be referred to the appropriate specialist for management.
Dr. Minh Trinh, MD, was referred a 62-year-old female with a relapsing/remitting course of iritis and new hypopyon. A tap and inject was performed including fungal coverage for possible indolent endophthalmitis. She was lost to follow up until returning with dense vitritis and a diagnostic vitrectomy showed Capnocytophaga cynodegmi, an organism found in normal oral flora of cats and dogs.
Pearl(s): One should have a low threshold for tap and inject in such cases. Broad range PCR is a powerful diagnostic tool to identify causative organisms. Inquire about dog and cat bites!
Dr. Angeline L. Wang, MD, treated a patient with zone 2, stage 3, ROP in both eyes with intravitreal bevacizumab at 35 weeks. The patient returned at 47 weeks with vitreous hemorrhage and on exam, had a small ridge in the periphery, but with midperipheral leakage and neovascularization at the original site of the ridge. The patient was treated with repeat intravitreal injection and photocoagulation to the avascular retina.
Pearl(s):: ROP can reactivate and occur at the original site or the more anterior junction of vascular/avascular retina. Recurrent disease may not demonstrate fibrous elements but present as fine vessels. ROP patients need to be monitored closely, and we must consider exam under anesthesia with or without angiograms to 60 weeks.
Dr. Glenn C. Yiu, MD, PhD, presented a young myopic female with bilateral midperipheral retinal aneurysms and otherwise healthy. Fluorescein angiogram showed small areas of leakage. OCT imaging demonstrated myopic tractional maculopathy with hyaloid stretching vessels causing remodeling.
Pearl(s): Make sure to work up hypertension and diabetes, but as this patient was asymptomatic, she has been closely observed.
