Faculty Bibliography

PURPOSE: To describe the multimodal imaging findings observed unilaterally in a patient with Best disease due to a p.G15D mutation in the BEST1 gene. METHODS: The clinical history of a 62-year-old female patient with unilateral Best disease was reviewed. Retinal findings were documented by clinical examination and multimodal imaging. RESULTS: Posterior segment examination of the patient's right eye demonstrated retinal pigment epithelium hypopigmentation and clumping in the central macula beneath a chronic shallow serous retinal detachment (SRD), confirmed by optical coherence tomography. Fluorescein angiography showed central staining with no evidence of focal leakage or choroidal neovascularization, and correlated with the hypoautofluorescence seen on fundus autofluorescence. There was no evidence of choroidal hyperpermeability on indocyanine green angiography, nor was there any neovascularization detected on optical coherence tomography-angiography. The left eye appeared normal with all imaging modalities. CONCLUSION: Best disease is an autosomal dominant disease that is generally bilateral. We present a case of a unilateral Best disease with serous retinal detachment in a patient with a p.G15D mutation in BEST1. Best disease should be considered in the differential diagnosis of serous retinal detachment and may masquerade as central serous chorioretinopathy.

PURPOSE: To report a case of unilateral stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) in a young male showing structural changes induced by a Valsalva maneuver. METHODS: Case report of a 26-year-old oboist with SNIFR, including multimodal imaging. Eye-tracked spectral-domain optical coherence tomography (SD-OCT) was used to compare the retinal architecture at rest and during a Valsalva maneuver. RESULTS: Spectral-domain optical coherence tomography showed macular and peripapillary retinoschisis with no signs of pathologic myopia, optic pit, or vitreoretinal traction. A full-field electroretinogram showed supranormal responses in the eye studied. Magnetic resonance imaging of the brain showed no abnormalities. Eye-tracked SD-OCT scans showed an increase in retinal thickness reaching 28 microns superior to the disc during an induced Valsalva maneuver. CONCLUSION: Stellate nonhereditary idiopathic foveomacular retinoschisis is a diagnosis made when other known causes of retinoschisis have been excluded. In this patient with unilateral SNIFR, an increase in retinal thickness during a Valsalva maneuver was demonstrated. Further study would be needed to determine the mechanism producing this change and to assess its potential influence on visual prognosis.

PURPOSE: To describe multimodal imaging findings of an evolving case of acute posterior multifocal placoid pigment epitheliopathy occurring in a young healthy male. METHODS: Case report of a patient with acute posterior multifocal placoid pigment epitheliopathy including comprehensive systemic and ocular examinations. Ultra-widefield autofluorescence, fluorescein angiography, indocyanine green angiography, and serial optical coherence tomography angiography were performed. RESULTS: A 34-year-old male presented with acute vision loss in his left eye for 2 weeks. His best-corrected visual acuity was 20/20 in his right eye and 20/200 in his left eye. Dilated funduscopic examination revealed multiple creamy white deep retinal lesions showing macular involvement of the left eye with a diffuse area of pigmentary changes. The presence of multiple areas of hypoperfusion of the inner choroid were demonstrated with fluorescein and indocyanine green angiography. Serial optical coherence tomography angiography showed multiple evolving areas of decreased flow at the level of the inner choroid. CONCLUSION: Although the pathogenesis of acute posterior multifocal placoid pigment epitheliopathy remains unknown, there is growing evidence of a primary choroidal involvement with secondary damage to the overlying retinal pigment epithelium and the outer retinal layers. Optical coherence tomography angiography may provide valuable information for the diagnosis and follow-up of this condition avoiding invasive angiographic procedures.

PURPOSE: To describe two cases of dome-shaped macula (DSM) and serous macular detachment, the diagnosis of which was enhanced with a radial optical coherence tomography (OCT) scanning protocol. METHODS: Retrospective case series of DSM associated with serous macular detachment. Multimodal retinal imaging was performed including spectral domain OCT with a radial scan protocol and en face OCT angiography. Anatomical outcomes before and after therapy are presented. RESULTS: Two cases of DSM associated with serous macular detachment are described. The dome-shaped macular bulge was more clearly elicited as the cause of serous macular detachment with the employment of a radial OCT scanning protocol. Subretinal fluid resolved in both cases using either intravitreal aflibercept injection or half-fluence photodynamic therapy. En face OCT angiography of the choroid demonstrated reduction in the caliber of choroidal vessels after treatment. CONCLUSION: A radial OCT scanning protocol should be considered in eyes with suspicion of DSM, especially in myopic eyes with subretinal fluid. Intravitreal aflibercept therapy or photodynamic therapy may be considered as a treatment for serous macular detachment because of DSM.

PURPOSE/OBJECTIVE:We describe a patient with an unusually posterior varix of a vortex vein ampulla. METHODS:Case report. RESULTS:An unusually posterior varix of a vortex vein ampulla mimicking a choroidal neoplasm was identified. The diagnosis was obscured by the presence of overlying drusen. Through a combination of indocyanine green angiography and enhanced depth imaging optical coherence tomography, the varix was identified as an engorged vascular process correlating to ophthalmoscopic and tomographic examination. Collapse of the varix after direct digital pressure on the globe was observed on enhanced depth imaging optical coherence tomography further confirming our diagnosis. CONCLUSION/CONCLUSIONS:Varices of vortex vein ampullas may be incorrectly diagnosed as choroidal neoplasms. Using a combination of multimodal imaging and dynamic maneuvering, varices can be correctly identified.

PURPOSE/OBJECTIVE:To elucidate the origin of disease in acute posterior multifocal placoid pigment epitheliopathy (APMPPE) and related placoid disorders, and to determine the principle tissue level of involvement: retinal pigment epithelium (RPE) versus choriocapillaris (CC). To determine the prevalence, extent, and persistence of choroidal flow reduction in placoid chorioretinitis using en face optical coherence tomography (OCT) and OCT angiography (OCTA). DESIGN/METHODS:Multicenter, prospective case series. PARTICIPANTS/METHODS:Patients with a clinical diagnosis of APMPPE, persistent placoid maculopathy (PPM), or relentless placoid chorioretinitis (RPC). METHODS:Morphologic evaluation of en face structural OCT and OCTA images with customized segmentation through the deep capillary plexus, outer nuclear layer, inner segment ellipsoid band, choriocapillaris, and outer choroid. MAIN OUTCOME MEASURES/METHODS:Segmented images were graded by 3 masked readers with regard to reduction of flow and signal attenuation, and intergrader agreement was determined by mean unweighted kappa analysis. RESULTS:In this study, 24 eyes of 15 patients with APMPPE, PPM, or RPC were recruited and 60% of patients were male (N = 9) and the mean age was 33.6 years (range, 19-73 years). Of the 24 eyes, 96% (23/24) were graded as definite (18/24, 75%) or questionable (5/24, 21%) flow reduction within the choriocapillaris on OCTA, and 58% (14/24) were graded as definite decreased flow within the outer choroid. Mean weighted kappa analysis among readers was 0.655 for OCTA of the choriocapillaris and 0.684 for OCTA of the outer choroid. Areas of choriocapillaris flow deficit correlated closely with ischemic lesions seen with fluorescein angiography and indocyanine green angiography but were more extensive with OCTA and significantly improved with treatment or nontreatment follow-up. Corresponding zones of outer retinal disruption also were identified and colocalized with the areas of choriocapillaris flow reduction seen with OCTA. CONCLUSIONS:Optical coherence tomography angiography indicates that the inner choroid is the primary site of disease pathogenesis in APMPPE and related placoid disorders with secondary photoreceptor disruption. Optical coherence tomography angiography may be used to enhance diagnosis of placoid disorders and to monitor the progression of choriocapillaris ischemia and its response to therapy.

PURPOSE: To investigate the outcomes of intravitreal antivascular endothelial growth factor (VEGF) therapy in eyes with both neovascular age-related macular degeneration (AMD) and diabetic retinopathy (DR). METHODS: Patients from four high-volume referral centres who presented with neovascular AMD and DR, and received intravitreal anti-VEGF therapy, were included. Data retrieved from medical records and multimodal imaging were analysed. RESULTS: Forty-one eyes of 38 patients (21 male, 17 female; mean age 78+/-8 years) were enrolled. Median follow-up was 28+/-19 (12-72) months with a mean of 9.2+/-7.4 intravitreal anti-VEGF injections per eye were administrated. Best-corrected visual acuity (BCVA) was 0.5+/-0.3 logMAR; it improved significantly at 1 year (0.3+/-0.3 logMAR; p=0.02) and returned to baseline values at last follow-up visit (0.6+/-0.4 logMAR; p=0.26). Mean central macular thickness (CMT) significantly decreased from 408+/-150 mum to 328+/-104 mum at 1 year (p=0.021) and to 335+/-127 mum at last follow-up visit (p=0.032). The baseline severity of DR was graded as mild non-proliferative DR (NPDR) in 21 (51%) eyes, moderate NPDR in 14 (34%), severe NPDR in 4 (10%) and inactive proliferative DR in 2 (5%). At last follow-up visit, one eye graded as moderate NPDR improved to mild, one eye graded as severe NPDR improved to mild and one eye graded as severe NPDR was inactivated due to panretinal photocoagulation. CONCLUSIONS: Outcomes analysis of intravitreal anti-VEGF therapy for eyes with both neovascular AMD and DR showed stabilisation of BCVA and reduction of CMT, along with stable or improved DR stage throughout follow-up.

PURPOSE: To quantify the temporal properties of the acquired vitelliform lesion (AVL) lifecycle, define the clinical characteristics of choroidal neovascularization (NV) in this setting and determine the predictors of long-term visual outcomes. DESIGN: Retrospective cohort study METHODS: Clinical and imaging data from 199 eyes of 124 consecutive patients with AVLs associated with age-related macular degeneration (AMD) and adult-onset foveomacular vitelliform dystrophy (AOFVD) were analyzed. Volumetric calculations of vitelliform material were determined using spectral-domain optical coherence tomography and the temporal properties of the AVL lifecycle were quantified. The clinical characteristics of NV were assessed as were the predictors of final best-corrected visual acuity (BCVA) and change in BCVA. RESULTS: Mean age was 79.2+/-12.1 years. AVLs grew and collapsed at approximately the same rate (P = 0.275). Fifteen eyes (7.5%) developed NV of which all were type 1. In 13 of these eyes, NV occurred during the collapse phase of the AVL lifecycle, after the peak AVL volume was reached. The risk of NV (P = 0.006) and the decline in BCVA (P = 0.001) were both significantly greater among eyes with AMD. Foveal atrophy was the characteristic most significantly associated with final BCVA and change in BCVA from baseline (both P < 0.0005). The development of NV was not predictive of long-term visual outcomes (all P = 0.216). CONCLUSIONS: Complications associated with AVLs typically occur during the collapse phase of the AVL lifecycle. Visual outcomes and risk of NV are related to the underlying disease associated with AVLs.

PURPOSE: To subsegment the choroid in patients with polypoidal choroidal vasculopathy and to determine whether the ratio of choriocapillaris/Sattler layer thickness to total choroidal thickness is decreased at sites of polypoidal pathology. METHODS: Retrospective, observational, cross-sectional study. A total of 320 eyes of 305 patients with polypoidal choroidal vasculopathy were studied with optical coherence tomography and dye angiography. The ratio of choriocapillaris/Sattler layer thickness to total choroidal thickness was calculated at polypoidal lesion sites in eyes with subfoveal choroidal thickness (SFCT)