Tianyu Liu, MD
Associated Retinal Consultants, Royal Oak, MI
Jeffrey Yu, MD
Kellogg Eye Center, University of Michigan, Ann Arbor, MI
Dr. Glenn Jaffe moderated a lively discussion with panelists Drs. David Yee, Allen Ho, Bernard Hurley, Nikisha Kothari, and Scott Walter on a variety of medical retina cases highlighting the importance of careful history taking, use of multimodal imaging, and entertaining a broad differential diagnosis.
The first case was a middle-aged male inmate who presented with hypopigmented changes near the fovea of both eyes. OCT revealed focal areas of subfoveal outer retinal disruption, but OCTA showed normal flow without obvious perfusion abnormalities. Further questioning revealed a history of alkyl nitrate use, confirming a diagnosis of “poppers maculopathy”, which can result from recreational use of alkyl nitrate-containing substances.
Next up was a case of a middle-aged obese female with chronic headaches, normal MRI brain, and elevated opening pressure on lumbar puncture. Her fundus exam revealed bilateral optic nerve swelling with an area of hypopigmentation in the macula of the right eye, and FA confirmed bilateral disc leakage. OCT revealed a band of hyperreflectivity in the inner nuclear layer of the right eye, confirming a diagnosis of paracentral acute middle maculopathy (PAMM). In this case, the PAMM was thought to be secondary to pseudotumor cerebri, which was treated with acetazolamide and weight loss. Over time, the disc edema and PAMM both resolved, however retinal thinning remained in the area with PAMM.
The three subsequent cases were all initially diagnosed as AMD. One case was referred for possible neovascular AMD due to drusenoid deposits with possible subretinal fluid. Fundus autofluorescence revealed more marked macular hypo-autofluorescence than expected for AMD. External examination revealed dark pigmentation of the sclera and under the fingernails, and further questioning revealed a history of acne rosacea treated with minocycline for 15 years, leading to a diagnosis of minocycline-induced scleral and retinal pigmentation. Another case referred for neovascular AMD showed well-demarcated areas of hypo-autofluorescence with pinpoint hyper-autofluorescence, and additional history revealed the use of pentosan for 20 years, confirming a diagnosis of pentosan polysulfate maculopathy. A third case referred for dry AMD similarly showed areas of hypo-autofluorescence with punctate hyper-autofluorescence, but the patient denied use of pentosan. Genetic testing revealed a MT-TL1 m.3243A>G mutation, a mitochondrial gene mutation associated with maternally inherited diabetes and deafness (MIDD).
The session concluded with two more cases. One was a case of young female with type 1 diabetes who presented with nyctalopia and decreased peripheral vision and was found to have auto-immune retinopathy and diabetic retinopathy. She had positive serum anti-retinal antibodies and responded well to intravenous immunoglobulin therapy. The final case was a middle-aged HIV+ male who presented with scattered creamy yellow lesions in the choroid of both eyes and was found to have cryptococcal choroiditis confirmed with positive CSF cryptococcal antigen. In summary, these cases highlighted the importance of important history taking and carefully considering alternative diagnoses!
