Faculty Bibliography

PURPOSE/OBJECTIVE:To compare clinical, optical coherence tomography (OCT), and fundus autofluorescence (FAF) characteristics of peripapillary versus (vs.) macular variants of combined hamartoma of the retina and retinal pigment epithelium (combined hamartoma). DESIGN/METHODS:Retrospective observational, comparative case series METHODS:SETTING: Multicentre collaborative study STUDY POPULATION: 50 eyes with a clinical diagnosis of combined hamartoma OBSERVATIONAL ANALYSIS: A comparative analysis of color fundus photographs (CFPs), OCT and FAF was performed for peripapillary and macular variants of combined hamartoma. MAIN OUTCOME MEASURES/METHODS:Pigmentation and OCT features of macular and peripapillary combined hamartoma RESULTS: The review of imaging from 50 eyes of 49 patients diagnosed with combined hamartoma identified 18 (36%) peripapillary lesions, 27 (54%) macular lesions and 5 (10%) peripheral lesions. A comparative analysis of peripapillary vs. macular combined hamartoma identified differences in the following features: lesion pigmentation on CFPs corresponding to hypoautofluorescent FAF (88% vs. 0%, p<0.001) and OCT features of full thickness involvement (88% vs. 3%, p<0.001), preretinal fibrosis (27% vs. 81%, p<0.001), maxi peaks (5% vs. 88%, p<0.001), intraretinal cystoid spaces (72% vs. 40%, p<0.038), outer plexiform layer involvement (5% vs. 96%, p<0.001), ellipsoid zone disruption (83% vs. 3%, p<0.001), RPE disruption (77% vs. 3%, p<0.001) and choroidal neovascularization (16% vs. 0%, p=0.028). CONCLUSIONS:This comparative analysis identified a higher frequency of pigmentation with hypoautofluorescence, full thickness retinal involvement, intraretinal cystoid spaces, ellipsoid zone disruption, RPE disruption and choroidal neovascularization in peripapillary combined hamartoma. These findings suggest that lesions occurring near or at the optic nerve are associated with a more severe degree of pigmentary changes and retinal disruption than those located in the macula.

PURPOSE/OBJECTIVE:To evaluate the long-term visual outcomes and causes of vision loss in chronic central serous chorioretinopathy (CSC). DESIGN/METHODS:Retrospective, longitudinal study SUBJECTS: One-hundred and thirty-three subjects (217 eyes) with chronic CSC. METHODS:A retrospective review of clinical and multimodal imaging data of patients with chronic CSC managed by 3 of the authors between May 1977 and March 2018. Multimodal imaging comprised color photography, fluorescein angiography, indocyanine green angiography, fundus autofluorescence (FAF) and optical coherence tomography (OCT). MAIN OUTCOME MEASURES/METHODS:Best corrected visual acuity (BCVA) at the final visit; change in BCVA between first visit and 1, 5 and 10-year follow-up visits, and causes of vision loss at final visit. RESULTS:Data from 6,228 individual clinic visits were analyzed. Mean age of patients at the first visit was 60.7 years and mean period of follow-up from first to last visit was 11.3 years. The cohort included 101 males (75.9%). At the final visit, 106 patients (79.7%) maintained driving-standard vision with BCVA of 20/40 or better in at least one eye and 17 patients (12.8%) were legally blind with BCVA of 20/200 or worse in both eyes. Mean BCVA at first visit was not significantly different from mean BCVA at 1 or 5-year follow-up visits (both p≥0.65) but was significantly better than the mean BCVA at the 10-year follow-up visit (p=0.04). Seventy-nine percent of eyes with 20/40 or better vision at the first visit maintained the same level of vision at the 10-year follow-up visit. Ninety-two percent of eyes with 20/200 or worse vision at the first visit maintained the same level of vision at the 10-year follow-up visit. Cystoid macular degeneration, choroidal neovascularization, outer retinal disruption on OCT and FAF changes were associated with poorer vision at final visit (all p≤0.001). Multivariable analysis revealed that greater age at first visit was associated with greater BCVA change at the 10-year follow-up visit (p=0.001). CONCLUSION/CONCLUSIONS:Chronic CSC can be a sight-threatening disease leading to legal blindness. Age at presentation and outer retinal changes on multimodal imaging were associated with long-term BCVA changes and may be predictors of long-term visual outcomes.

As rates of infectious syphilis continue to rise in the U.S., it is important to be familiar with known manifestations of ocular syphilis as well as report presentations not previously described in the literature. Here, the authors report a case of a 49-year-old myopic woman presenting with bilateral white dots characteristic of a white dot syndrome; these white dots were not evident on slit-lamp examination and became obvious on fundus autofluorescence. She tested positive and was successfully treated for syphilis. This case demonstrates that ocular syphilis can present with white dots and should be on the differential diagnosis of white dot syndromes. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e52-e55.].

PURPOSE/OBJECTIVE:To investigate the macular changes over time in eyes containing subretinal drusenoid deposits (also known as pseudodrusen) with no drusen >63 µm. METHODS:A consecutive series of patients were examined with color fundus photography, optical coherence tomography, and autofluorescence imaging with fluorescein angiography used as necessary. Exclusionary criteria included macular neovascularization, history of retinal surgery, pseudoxanthoma elasticum, and drusen >63 µm. RESULTS:There were 85 eyes of 54 patients. The mean age at baseline was 83.6 (±7.8) years, and there were 17 men. The mean follow-up was 5.0 (±2.9) years. At initial optical coherence tomography examination, 12 eyes had extrafoveal atrophy and 17 eyes had vitelliform deposits, which were yellowish white subretinal collections that showed intense hyperautofluorescence. During follow-up, 11 eyes lost vitelliform material. After the disappearance of small deposits, focal hyperpigmentation remained. Loss of larger deposits was associated with noteworthy sequela; six developed subfoveal atrophy and one macular neovascularization close to regressing vitelliform material. Subfoveal geographic atrophy developed in four other eyes without vitelliform material by extension from areas of extrafoveal atrophy. Macular neovascularization developed in seven eyes over follow-up. The CFH Y402H and ARMS2 A69S allele frequencies were 57% and 48.9%, respectively, which is similar to a group of age-related macular degeneration controls. One patient had a novel PRPH2 mutation, but did not have a vitelliform deposit; the remainder had a normal PRPH2 and BEST1 coding sequences. CONCLUSION/CONCLUSIONS:Eyes with subretinal drusenoid deposits and no drusen >63 mm have significant risk for the development of both neovascularization and geographic atrophy, the fundamental components of late age-related macular degeneration. An intermediate step in some eyes was the development of a vitelliform deposit, an entity not traditionally associated with age-related macular degeneration, but in these patients, the material seemed to be an important component of the disease pathophysiology. This vitelliform deposit was not associated with genetic markers for pattern dystrophy or Best disease.

PURPOSE/OBJECTIVE:To describe the preclinical and very early stages of type 3 neovascularization using multimodal retinal imaging to expand our understanding of the pathogenesis of this disorder and potentially to prevent late treatment. DESIGN/METHODS:Retrospective cohort study. PARTICIPANTS/METHODS:Patients diagnosed with treatment-naïve type 3 neovascularization in the setting of age-related macular degeneration were identified at 4 retina referral centers. Inclusion criteria were: patients older than 55 years with at least 1 OCT and OCT angiography (OCTA) examination before the onset of clinically active type 3 neovascularization (i.e., preclinical stage). METHODS:Patients underwent a complete ophthalmologic examination including at least OCT and OCTA at the baseline and preclinical stage examinations, and dye angiographies when available. Demographics and clinical findings were analyzed. MAIN OUTCOME MEASURES/METHODS:Description of multimodal imaging features of nascent type 3 neovascularization. RESULTS:Fifteen eyes (15 patients; mean age, 83 ± 9 years) were included. At the baseline, mean BCVA was 0.32 ± 0.17 logarithm of the minimum angle of resolution and central macular thickness was 313 ± 50 μm. Preclinical (i.e., prebaseline) structural OCT illustrated the presence of intraretinal hyperreflective foci (HRF) at the site of type 3 neovascularization development in all patients. These foci were characterized by hyperfluorescence on dye angiography and by detectable flow on OCTA, identified with either the avascular slab (20%) or with both the deep retinal capillary plexus (DCP) and avascular slabs (80%). Typically, HRF with detectable flow on OCTA were characterized by the absence of intraretinal exudation (or very mild microcystic changes) until the lesion progressed from the DCP into the retinal pigment epithelium (RPE) and sub-RPE space. Of note, in 1 patient we observed the complete resolution of HRF despite the presence of OCTA flow and dye angiography hyperfluorescence detected at the preclinical stage examination. CONCLUSIONS:Hyperreflective foci on structural OCT may represent early intraretinal neovascularization originating from the DCP, namely nascent type 3 neovascularization; these lesions can progress to active type 3 neovascularization or more rarely may regress without functional impairment. An advanced multimodal imaging approach is useful in detecting nascent type 3 lesions, which should be followed up carefully and treated as soon as possible if flow progresses to the RPE and sub-RPE space to prevent progression to late stages.

BACKGROUND AND OBJECTIVE/OBJECTIVE:To use quantitative fundus autofluorescence (qAF) to analyze different stages of non-neovascular age-related macular degeneration (AMD). PATIENTS AND METHODS/METHODS:In this cohort study, 38 pseudophakic patients and 36 age-matched controls participated. We performed near-infrared, spectral-domain optical coherence tomography and qAF imaging on 31 pseudophakic eyes and controls of participants older than 60 years with non-neovascular AMD phenotypes using the Spectralis HRA + OCT (Heidelberg Engineering, Heidelberg, Germany). RESULTS:The patients included in this study had a mean age of 83.9 years, and 35.7% patients were men. Mean qAF was higher in control participants than in all patients with AMD (P < .001). According to non-neovascular AMD phenotype, mean qAF levels were significantly lower in eyes with subretinal drusenoid deposits than in control eyes (P < .05). The lowest mean qAF was in patients with geographic atrophy. CONCLUSION/CONCLUSIONS:Quantitative fundus autofluorescence of non-neovascular AMD decreases from normal to early to late AMD, suggesting that loss of lipofuscin fluorophores, not increase, signifies AMD progression. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:S34-S42.].

PURPOSE/OBJECTIVE:To investigate the deep retinal vascular changes potentially present in macular telangiectasis Type 2 (MacTel 2) with projection resolved optical coherence tomography angiography including volume rendering. METHODS:Retrospective consecutive evaluation of patients with MacTel 2 in a community-based retinal referral practice with a comprehensive ophthalmologic examination to include optical coherence tomography and projection-resolved optical coherence tomography angiography with volume rendering. Main outcome measures were the characterization of vessel presence and anatomical arrangement in the outer retina. RESULTS:There were 26 eyes of 13 patients with a mean age of 64.9 (±11.3) years, and 6 were men. The mean visual acuity was logMAR 0.4 (Snellen equivalent 20/50). No eye had signs of choroidal neovascularization or exudation. Focal hyperpigmentation was seen in 13 (50%) and right-angle veins in 17 (65%) eyes. Retinal-choroidal anastomoses were seen in 17 (65%) eyes. These anastomoses typically occurred in multiple clusters of small vessels. The presence of anastomoses was associated with pigment (P < 0.001), although the anastomoses did not necessarily colocalize with the pigment, and right-angle veins (P < 0.001), which were found in every eye with a retinal-choroidal anastomosis. CONCLUSION/CONCLUSIONS:Retinal-choroidal anastomoses were commonly observed in eyes with MacTel 2 using projection-resolved optical coherence tomography angiography. One animal model for MacTel 2 uses very low-density lipoprotein receptor mutant mice and shows multiple retinal-choroidal anastomoses in the disease pathogenesis as well. These findings suggest MacTel 2 is more than just a neurodegenerative disease with secondary vascular abnormalities, as the choroid may be involved in the disease process.