Faculty Bibliography

PURPOSE/UNASSIGNED:To describe delayed detection of pericentral hydroxychloroquine (HCQ) toxicity. METHODS/UNASSIGNED:67-year-old Dominican woman with rheumatoid arthritis on HCQ presented for examination. RESULTS/UNASSIGNED:Spectral-domain optical coherence tomography (SD-OCT) demonstrated bilateral cystoid macular edema with parafoveal attenuation of the external limiting membrane (ELM) and the ellipsoid zone (EZ). ELM and EZ disruption was present in inferior macula. While subtle superior defects were present on 10-2 visual fields, superior pericentral defects were noted on 24-2 testing. Hyperautofluorescence along inferior arcades corresponded to SD-OCT and visual fields. Examination 2 years prior demonstrated nonspecific points of depression on 10-2 visual fields and normal central SD-OCT findings. EZ and ELM disruption was present in the perifoveal inferior macula. CONCLUSIONS/UNASSIGNED:Early pericentral distribution of HCQ toxicity is not limited to Asian patients. Detecting pericentral HCQ toxicity involves reviewing entire macular cube on OCT. When OCT changes are suspected on parafoveal OCT B-scans, visual field testing with 24-2 may be more sensitive than 10-2.

PURPOSE/UNASSIGNED:To describe a rare case of intraocular lymphoma that metastasized from cutaneous mycosis fungoides and transformed to large cell T cell lymphoma resulting in vitreoretinal pathology. METHODS/UNASSIGNED:Retrospective case report. RESULTS/UNASSIGNED:A 57-year-old male presented with 3 months of blurred vision in the right eye. He reported only a medical history of psoriasis. Examination revealed keratic precipitates and dense vitritis in the right eye. He was taken for a diagnostic vitrectomy. Histopathology showed that atypical lymphoid cells and flow cytometry were consistent with transformed large cell T-cell lymphoma. During follow-up, pre- and inner retinal lesions were noted throughout the posterior pole. Histopathology of the psoriatic lesions was consistent with mycosis fungoides. He was initiated on systemic and intravitreal methotrexate with improvement in vision. CONCLUSIONS/UNASSIGNED:Ocular involvement in metastatic transformed T-cell lymphoma is extremely rare but can be present with vitritis and retinal deposits. Our patient responded well to intravitreal methotrexate therapy.

Purpose : To evaluate the diagnostic yield and clinical impact of the SPARK/Invitae gene panel in patients with known or suspected inherited degenerative retinal disease, in comparison with traditional clinical assessments. Methods : Patients of the authors' clinical practices obtained genetic screening at no charge via the SPARK/Invitae ID your IRD genetic testing panel, which ranged from 248 genes to 293 genes. Over 16 months, tests were submitted for 87 patients and results were available for 70 patients. Clinical diagnoses prior to submitting the gene panel . By continuing to use our website, you are agreeing to included retinitis pigmentosa; Stargardt disease; Best vitelliform dystrophy; Leber our privacy policy. congenital amaurosis; choroideremia; achromatopsia; cone-rod dystrophy; congenital stationary night blindness; occult macular dystrophy; and familial dominant drusen in addition to patients with normal clinical findings and unclear diagnoses. Results : Of 70 patients, SPARK/Invitae considered the results ''Positive or Potentially Positive'' in 24 cases (34.3%), Carrier in 16 cases (22.9%) and ''Uncertain'' in 30 cases (42.9%). Uncertain results comprised patients with only Variants of Uncertain Significance. Patients categorized as a Carrier by SPARK/Invitae but who demonstrated pathogenic genetic changes correlating to the clinical diagnosis were considered to be in agreement with the clinical impression. The genetic diagnosis agreed with the clinical diagnosis in 30/70 (42.9%) total patients. Test results were consistent with the clinical impression in 13/26 (50.0%) retinitis pigmentosa cases, 6/8 (75.0%) Stargardt patients, 3/7 (42.9%) cone-rod dystrophy cases, and 2/4 (50.0%) Best vitelliform dystrophy patients. Gene testing helped elucidate diagnoses in two patients with unclear clinical impressions: one panel showed autosomal recessive achromatopsia and the other showed a carrier state for autosomal recessive retinitis pigmentosa. Of four patients with normal clinical exams, none had diagnostic results: all showed Uncertain findings. Conclusions : The SPARK/Invitae gene panel provided a genetic diagnosis consistent with the clinical impression in about 40 percent of patients. Retinitis pigmentosa and Stargardt disease were the most common clinical diagnoses and the diagnoses most often confirmed by testing. Genetic screening also assisted in clarifying unknown diagnoses for two patients

Purpose/UNASSIGNED:The purpose was to establish the position of the fovea centralis to the optic nerve via en-face, near-infrared spectral domain optical coherence tomography (NIR-OCT) in healthy patients. This may shed light on physiological variability and be used for studying subtle cases of foveal ectopia in macular pathology and after retinal detachment. Methods/UNASSIGNED:SD-OCT data of 890 healthy eyes were retrospectively analyzed. Exclusion criteria included axial myopia causing tilting of the optic disc, peripapillary atrophy >1/3 the width of the disc, macular images excluding greater than half of the optic disc, and patients unable to maintain vertical head positioning. Two independent reviewers measured the horizontal and vertical distance from the fovea to the optic disc center and optic disc diameter via cross-sectional and en-face scanning laser ophthalmoloscopy OCT imaging. Results/UNASSIGNED:890 eyes were included in the study. The right and left eyes differed in the horizontal distance from the fovea to the disc center (4359 vs. 4248 µm, P < 0.001) and vertical distance from the fovea to the disc center (464 µm vs. 647, P < 0.001). This corresponded to a smaller angle between the right and left eyes (6.07° vs. 8.67°, P < 0.001). Older age was associated with a larger horizontal (P = 0.008) and vertical distance (0.025). These differences persisted after correcting for axial length in the 487 patients with axial-length data. Conclusions/UNASSIGNED:This study compares the position of the fovea centralis among individuals without macular pathology on a micron level basis. The significant variability between right and left eyes indicates that contralateral eye evaluation cannot be reliably used. Rather, true foveal ectopia requires assessments of preoperative and postoperative NIR-OCT scans. This finding is relevant to retinal detachment cases and evaluation of subtle foveal ectopia. Translational Relevance/UNASSIGNED:This finding is relevant to retinal detachment cases and evaluation of subtle foveal ectopia.

Importance/UNASSIGNED:The American Academy of Ophthalmology (AAO) indicated that urgent or emergent vitreoretinal surgical procedures should continue during the coronavirus disease 2019 (COVID-19) pandemic. Although decreases in the frequency of critical procedures have been reported outside the field of ophthalmology, analyses are limited by volume, geography, and time. Objective/UNASSIGNED:To evaluate whether the frequency of ophthalmic surgical procedures deemed urgent or emergent by the AAO changed across the United States during the COVID-19 pandemic. Design, Setting, and Participants/UNASSIGNED:Vitreoretinal practices from 17 institutions throughout the US participated in this multicenter cross-sectional study. The frequency of 11 billed vitreoretinal Current Procedural Terminology (CPT) codes across respective weeks was obtained from each practice between January 1, 2019, and May 31, 2020. Data were clustered into intravitreal injections (code 67028), lasers and cryotherapy (codes 67141, 67145, and 67228), retinal detachment (RD) repairs (codes 67107, 67108, 67110, and 67113), and other vitrectomies (codes 67036, 67039, and 67040). Institutions were categorized by region (Northeast, Midwest, South, and West Coast), practice setting (academic [tax-exempt] or private [non-tax-exempt]), and date of respective statewide stay-at-home orders. Main Outcomes and Measures/UNASSIGNED:Nationwide changes in the frequency of billing for urgent or emergent vitreoretinal surgical procedures during the COVID-19 pandemic. Results/UNASSIGNED:A total of 526 536 CPT codes were ascertained: 483 313 injections, 19 257 lasers or cryotherapy, 14 949 RD repairs, and 9017 other vitrectomies. Relative to 2019, a weekly institutional decrease in injections was observed from March 30 to May 2, 2020, with a maximal 38.6% decrease (from a mean [SD] of 437.8 [436.3] to 273.8 [269.0] injections) from April 6 to 12, 2020 (95% CI, -259 to -69 injections; P = .002). A weekly decrease was also identified that spanned a longer interval, at least until study conclusion (March 16 to May 31, 2020), for lasers and cryotherapy, with a maximal 79.6% decrease (from a mean [SD] of 6.6 [7.7] to 1.5 [2.0] procedures) from April 6 to 12, 2020 (95% CI, -6.8 to -3.3 procedures; P < .001), for RD repairs, with a maximal 59.4% decrease (from a mean [SD] of 3.5 [4.0] to 1.6 [2.2] repairs) from April 13 to 19, 2020 (95% CI, -2.7 to -1.4 repairs; P < .001), and for other vitrectomies, with a maximal 84.3% decrease (from a mean [SD] of 3.0 [3.1] to 0.4 [0.8] other vitrectomies) from April 6 to 12, 2020 (95% CI, -3.3 to -1.8 other vitrectomies; P < .001). No differences were identified by region, setting, or state-level stay-at-home order adjustment. Conclusions and Relevance/UNASSIGNED:Although the AAO endorsed the continued performance of urgent or emergent vitreoretinal surgical procedures, the frequency of such procedures throughout the country experienced a substantial decrease that may persist after the COVID-19 pandemic's initial exponential growth phase. This decrease appears independent of region, setting, and state-level stay-at-home orders. It is unknown to what extent vitreoretinal intervention would have decreased without AAO recommendations, and how the decrease is associated with outcomes. Although safety is paramount during the COVID-19 pandemic, practices should consider prioritizing availability for managing high-acuity conditions until underlying reasons for the reduction are fully appreciated.

Posterior pigment dispersion is a rare ophthalmic finding that has been reported in patients undergoing retinectomy with silicone oil placement and in patients who underwent significant anterior segment manipulation and vitrectomy. The pigment release is believed to occur from retinal pigment epithelium (RPE) cells in the former and the posterior iris in the latter. The exact timing of this pre-retinal pigment deposition is unknown but typically is mild and occurs over several months. A rapid progression of diffuse preretinal pigmentation is uncommon and may be suggestive of persistent RPE release from an open break or continued iris trauma with posterior pigment release. This report describes a case of profound posterior pigment deposition more than 4 months after retinectomy and oil in a patient with a persistently open retinectomy edge with anterior retinal detachment. The rapidity of pigment deposition was the clue to recognizing this subtle anterior detachment under silicone oil. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:47-49.].

Recurrent episodes of neurological dysfunction and white matter lesions in a young adult raise suspicion for multiple sclerosis (MS). However, occlusive retinopathy, hearing loss and absence of CSF oligoclonal bands are atypical for MS and should make the clinician consider an alternative diagnosis. We describe a man with hearing loss, visual signs and symptoms, and an accumulating burden of brain lesions, who was treated for a clinical diagnosis of MS for nearly two decades. Genetic testing revealed a unifying diagnosis.