Jennifer Hu, MD
Mass Eye and Ear, Boston, MA
Sessions 3 and 6 of the trainee cases were full of interesting presentations from our residents and fellows. Dr. Erin Flynn presented a case of unexplained vision loss after silicone oil removal which turned out to be small amounts of emulsified silicone oil intraretinally seen as small vacuoles within the retina on OCT imaging. Dr. Luis Martinez-Velasquez then followed with a female who presented with patchy confluent white spots, mostly unilateral, leading us toward MEWDs. Dr. Martinez surprised the audience with several small sub-retinal pyramidal lesions and a positive Lyme titer. The audience seemed undecided regarding MEWDs versus Lyme, but reassuringly this patient’s lesions improved after her 4-week course of ceftriaxone and steroids.
Dr. Oh presented a case of a 46-year-old female referred for asymptomatic faint RPE changes centrally and with several serous PEDs. She also reported that her son had progressive blurry vision and his subsequent examination revealed more significant vitelliform lesions bilaterally. EOG and genetic testing confirmed Best’s Disease – the mother had a [c.763C>T:(p.Arg255Trp] variant and her son was a carrier for the same dominant variant AND a recessive variant [c.113T>G:(p.Ile38Ser)]. Genetics was discussed again when Dr. Laura Jenny presented a of a 61-year-old female who was referred for Retinitis Pigmentosa. Color fundus photos showed a classic RP appearance with the exception that the spicules were found to coalesce around the arcades and had a nummular appearance. The ERG was pathognomonic for Enhanced S Cone Syndrome with subsequent genetic testing confirming this as well. She posed a question to the audience – do we need ERG still in an era of genetic testing? Dr. Sarraf noted that the ERG still allows you to better interpret the genetic testing – an important tool to be retained in a retina specialist’s toolkit.
Dr. Jacques Bijon asked the question – does dark without pressure matter? He presented a case of a 22-year-old male with progressive peripheral field changes and photopsias over the past 2 years. Wide field images showed enlarging areas of dark without pressure in the mid-periphery, corresponding to areas of decreased EZ reflectivity. Repeated microperimetry over these areas showed decreased retinal sensitivity. The audience discussed how unusual it is to see field loss from dark without pressure and that the etiology of this case is not known.
Dr. Rebecca Silverman showed a case of a dense white cataract and a surprise dome shaped lesion with cystic spaces and some hyperechoic foci in the posterior pole. The audience offered guesses: chronic RD with macro cyst? PEHCR? An MRI cinched the diagnosis and showed…NOTHING! The B-scan was re-examined and in fact what was being seen was a reduplication echo due to the dense lens. The patient underwent cataract surgery and post-operatively no lesion was seen – a great disappearing act.
Finally, Dr. Saghar Bagheri presented a 43-year-old man with a 20 second episode of darkening which had resolved. The fundus photo showed faint tortuously of the vessels bilaterally and the OCT showed curious hyper-reflectivities. A room of retinal specialists was then asked to look at a cornea which showed verticillata. Alpha-galactosidase A deficiency was suspected, and testing confirmed Fabry disease, reminding us to examine the whole eye.
