Arjun Watane, MD
Yale Ophthalmology, New Haven, CT
The Atlantic Coast Retina Club had an exciting afternoon of complex and mystery cases. A summary of selected cases are described below.
The first session Retinal Vascular Disease was moderated by Alexander J. Brucker, MD, Lee M. Jampol, MD and Lawrence A. Yannuzzi, MD.
Lee M. Jampol, MD presented a case of treatment naïve VHL retinal hemangioblastomas with concurrent FEVR in both eyes. The hemangiomas responded well to anti-VEGF and belzutifan, the latter of which should be considered especially in severe cases.
Richard B. Rosen, MD presented a rare case of Purtscher’s or Purtscher’s-like retinopathy with diffuse peripheral retinal non-perfusion. Additional history revealed Raynaud’s, increased inflammatory markers, and positive lupus serology. Thus, a diagnosis of Lupus-related Purtscher’s-like retinopathy was made.
Nauman A. Chaudhry, MD described an interesting case with bilateral macular edema initially thought to be diabetes related. However, there was no improvement with anti-VEGF injections. Further systemic workup revealed asymptomatic elevated IgM and positive IgM kappa, and thus a diagnosis of lymphoplasmocytic lymphoma or Waldenstrom macroglobunemia with only macular involvement was made.
The second session Uveitis & Genetics (Part I) was moderated by Emmett T. Cunningham, Jr., MD, PhD, MPH, Amani A. Fawzi, MD and Yasha S. Modi, MD.
Deep Parikh, MD presented a young woman with bilateral pan-uveitis and history of severe eczema on dupilumab. She had numerous white peripheral retinal lesions that advanced slowly towards the macula. After a negative infectious workup and stopping dupilumab, the lesions responded very well to oral steroids and a diagnosis of multifocal choroiditis and panuveitis was made. There have been prior associations of dupilumab and intraocular inflammation.
Yasha S. Modi, MD described a patient with common variable immunodeficiency with acute left eye severe pigmented epithelial detachment and sub-retinal fluid. The patient responded significantly well to high dose steroids with a likely diagnosis of Harada disease in the setting of CVID. She was eventually started on rituximab and mycophenolate for long term therapy.
Kyoko Ohno-Matsui, MD, PhD presented a patient with Graves disease with blurry vision and elevated TSH receptor antibody. There was mild thyroid eye disease (only mild exophthalmos). Exam showed vitreous opacities and retinal vasculitis, and workup was positive for HTLV-1, suggesting a diagnosis of human T-lymphotropic virus related uveitis. The patient responded well to oral and topical steroids.
The third session Uveitis & Genetics (Part II) was moderated by Debra A. Goldstein, MD, David Sarraf, MD and Richard F. Spaide, MD
R. Rishi Gupta, MD diagnosed a unique case of Sweet’s syndrome in a patient with rash, upper respiratory infection, fever, and neutrophilia. The patient had scleritis and choroidal inflammation and responded to systemic and intravitreal steroids.
C. Michael A. Samson, MD, MBA presented a case with choroidal spots and vitritis. Systemic findings were interesting – there was weight loss and lung nodules. Workup was positive for both sarcoidosis and HLA-A29 which begs the question – are the findings associated with birdshot chorioretinitis or choroidal involvement of sarcoidosis.
The fourth session Inherited Retinal Disease was moderated by Anita Agarwal, MD, Camiel J.F. Boon, MD, PhD, FEBO and Jose S. Pulido, MD, MS, MPH, MBA.
Nan-Kai Wang, MD, PhD presented a case of photophobia, decreased vision, and retinal crystals. The diagnosis was neuronal intranuclear inclusion disease (NIID), a rare neurodegenerative disease. Ocular findings include rod-cone degeneration and intraretinal depositions.
Nimesh A. Patel, MD presented an interesting case of bilateral concentric rings of peripheral whitening. Family members also had myopic schisis. The diagnosis was Wagner syndrome, a hereditary vitreoretinopathy.
Mandeep Singh, MD, PhD presented a very complex case with constant severe photoaversion in both eyes, found to have foveal photoreceptor layer disruption. Possible associated findings include Hashimoto’s thyroiditis and various genes of uncertain significance found on whole genome sequencing.
Tongalp H. Tezel, MD, PhD presented a case of a patient diagnosed with autoimmune encephalitis without a clear cause on full workup. Further testing identified alpha-enolase as the potential protein associated with the autoimmune encephalitis. The diagnosis was non-paraneoplastic limbic encephalitis associated with release of alpha-enolase from the degenerating retina.
