Faculty Bibliography

PURPOSE/OBJECTIVE:To describe the occurrence of an acquired choroidal nevus in a 73-year-old white man. METHODS:Case report. RESULTS:A 73-year-old white man was referred for an evaluation and treatment of macular changes in his left eye consistent with pachychoroid neovasculopathy. Baseline funduscopic examination and color fundus photographs showed two small peripheral choroidal nevi in the right eye and a single small choroidal nevus in the far temporal macula of the left eye. Treatment with intravitreal aflibercept was initiated in the left eye on a treat-and-extend dosing regimen. Approximately 1 year later, a new pigmented choroidal lesion was detected in the left macula in an area where previous high-resolution color fundus photographs had shown no abnormal pigmentation. Swept-source optical coherence tomography of the new pigmented lesion showed flat hyperreflectivity within the inner choroid consistent with a small choroidal nevus. The patient was referred to his internist who found no evidence of an occult malignancy. Over the course of more than 4 additional years of continuous follow-up, the new choroidal nevus remained stable, no new fundus abnormalities were detected in either eye, and the patient remained medically stable. CONCLUSION/CONCLUSIONS:To the best of our knowledge, this is the first documented case of a new choroidal nevus. Multimodal imaging performed before lesion detection and over the ensuing 4 years showed its stability, thus allowing for the conclusion that it was a benign choroidal nevus rather than a neoplastic or paraneoplastic process.

PURPOSE/OBJECTIVE:To report a retinal pigment epithelium (RPE) tumor with exudative maculopathy, originating from an atypical RPE lesion presumed to represent congenital hypertrophy of the RPE or RPE hyperplasia. METHODS:Multimodal imaging including fundus autofluorescence, optical coherence tomography, fluorescein angiography, and optical coherence tomography angiography. RESULTS:A 76-year-old West African man noted visual acuity reduction to count fingers in the right eye and 20/400 in the left eye. Features of chronic glaucoma were noted. In addition, there was a fairly well-circumscribed darkly pigmented RPE lesion in the paramacular region in the right eye, measuring 4 mm in diameter and flat and consistent with atypical congenital hypertrophy of the RPE or RPE hyperplasia. On the posterior margin of this mass was an RPE tumor, presumed to represent RPE adenoma, producing exudative maculopathy and cystoid macular edema. Multimodal imaging was used to distinguish the RPE tumor from macular neovascularization. A similar atypical congenital hypertrophy of the RPE without retinopathy measuring 3.5mm in diameter was noted in the temporal macular region in the left eye. After six monthly doses of intravitreal bevacizumab (1.25 mg/0.05 mL) in the right eye, the maculopathy resolved and the RPE mass showed partial involution with visual acuity return to baseline 20/200. CONCLUSION/CONCLUSIONS:Congenital hypertrophy of the RPE and RPE hyperplasia can produce RPE adenoma with related exudative maculopathy. In this case, the maculopathy responded to bevacizumab.

PURPOSE/OBJECTIVE:To describe the clinical and multimodal imaging (MMI) features of age-related macular degeneration (AMD) eyes presenting with intraretinal exudation and no evidence of neovascularization or structural alterations of native retinal vessels. METHODS:This was a retrospective review of the MMI and electronic health records for 3 consecutive patients presenting with unilateral exudative non-neovascular age-related macular degeneration. MMI included confocal color fundus photography (CFP), fundus autofluorescence (FAF), fluorescein angiography (FA), spectral domain optical coherence tomography (SD-OCT), swept-source optical coherence tomography angiography (SS-OCTA), and spectral domain optical coherence tomography angiography (SD-OCTA). Dense B-scan OCTA (DB-OCTA) patterns and implemented image post-processing were used to improve spatial resolution in the OCTA analysis and remove projection artifacts. RESULTS:Three eyes of 3 patients (1 male and 2 females, ages 72-87) developed intraretinal fluid (IRF) producing retinal edema during regular follow-up for non-neovascular AMD. FA, SS-OCTA, and DB-OCTA demonstrated no evidence of macular neovascularization or discrete retinal vascular abnormalities that could explain the IRF accumulation. Two eyes received intravitreal anti-VEGF therapy and demonstrated prompt resolution of IRF with periodic recurrences over time. CONCLUSION/CONCLUSIONS:Exudative non-neovascular AMD is a novel clinical phenotype characterized by the presence of non-neovascular intraretinal exudation producing macular edema. Differentiating this condition from other manifestations of AMD requires appropriate use of MMI. Further study is needed to assess the clinical impact and optimal management of exudative non-neovascular AMD.

PURPOSE/OBJECTIVE:To describe the differential response of two distinct inflammatory signs occurring in eyes with punctate inner choroidopathy (PIC). METHODS:Retrospective, observational case series utilizing multimodal imaging (MMI). RESULTS:Four eyes of 4 myopic female patients (mean age 35 years, range 31-42) presenting with retinal manifestations of PIC. All study eyes had 2 distinct signs of active disease: 1) acute focal hyperreflective lesions splitting the retinal pigment epithelium/Bruch's membrane (RPE/BrM) complex on optical coherence tomography (OCT) which appeared hypoautofluorescent on fundus autofluorescence (FAF), and 2) more diffuse areas of outer retinal disruption (ORD) limited to the ellipsoid zone and interdigitation zone on OCT and corresponding to hyperautofluorescence on FAF. All patients were treated with oral prednisone and demonstrated prompt regression of the RPE/BrM complex lesions with a concurrent, paradoxical centrifugal expansion of ORD. The ORD eventually resolved in all eyes (mean time 6 weeks, range 4-10 weeks). CONCLUSIONS:In patients with PIC, two distinct inflammatory signs observed with MMI display a differential response to systemic corticosteroids. Whereas focal inflammatory lesions splitting the RPE/BrM complex appear to respond rapidly, the more diffuse, transient ORD shows little response. This difference in treatment response may reflect different immunological phenomena with independent natural history.

PURPOSE/OBJECTIVE:To report the frequency, optical coherence tomography (OCT) findings, and visual and anatomic outcomes of patients with acute Vogt-Koyanagi-Harada disease presenting with the bacillary layer detachment (BLD) (intraretinal split at the photoreceptor inner segment myoid). METHODS:This was a retrospective analysis of a consecutive series of patients with Vogt-Koyanagi-Harada disease having a minimum follow-up of 6 months. All patients had swept-source OCT, fluorescein angiography, and indocyanine green angiography performed at baseline. The characteristics of serial swept-source OCT were recorded and analyzed. RESULTS:Sixty-two subjects (42 women; age: 34.2 ± 12 years) with Vogt-Koyanagi-Harada disease were included. 118 eyes (95.2%) had serous retinal detachment at presentation. 112 eyes (94.9%) showed the BLD at baseline. In 8 of 112 (7.1%) eyes with the BLD, the external limiting membrane at the anterior aspect of the BLD showed focal discontinuity. The interdigitation zone at the base of the BLD showed discontinuity in 53 of 112 (47.3%) eyes with the BLD. The ellipsoid zone could not be identified as a separate hyperreflective line at the base of the BLD in 102 of 112 eyes (91.1%). Bacillary layer detachments resolved within 3.4 ± 1.3 days after intravenous methylprednisolone therapy with improvement in the best-corrected visual acuity from 0.96 to 0.4 logarithm of the minimum angle of resolution (20/184 Snellen's equivalent) (P < 0.001). Resolution of serous retinal detachment was observed after 5.9 ± 2.6 days. CONCLUSION/CONCLUSIONS:In eyes with acute Vogt-Koyanagi-Harada disease, the BLD is a common finding and represents a split in the photoreceptor layer at the inner segment myoid and can be differentiated from serous retinal detachment using swept-source OCT. In addition, resolution of the BLD and photoreceptor recovery can be evaluated using serial swept-source OCT.

PURPOSE/OBJECTIVE:To describe the retinal findings in a 25-year-old white woman in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene. METHODS:Observational case report of a 25-year-old woman who presented with primary amenorrhea, cerebellar ataxia, and mild retinal pigmentary abnormalities. Neurologic, endocrine, and genetic evaluations established a diagnosis of BNS. RESULTS:Clinical examination and multimodal imaging documented focal outer retinal and retinal pigment epithelium changes including bilateral foveal stippling and a circular area of hypopigmentation in the superior macula of the left eye. Optical coherence tomography showed a linear area of outer retinal attenuation superonasal to the fovea and multiple foci of pinpoint outer retinal defects in the temporal macula of the left eye. Humphrey visual field 24-2 testing showed nonspecific defects in both eyes. Full-field electroretinography showed no evidence of a generalized retinal dysfunction. CONCLUSION/CONCLUSIONS:Recognition that the chorioretinal abnormalities occurring in BNS can be rather subtle is essential because the diagnosis of BNS may depend on their detection. To the best of our knowledge, this is the first report in the ophthalmic literature of mild chorioretinal changes in a patient with BNS testing positive for a mutation in the PNPLA6 gene.

The retinal capillary vasculature serves the formidable role of supplying the metabolically active inner and middle retina. In the parafoveal region, the retinal capillary plexuses (RCP) are organized in a system of three capillary layers of varying retinal depths: the superficial capillary plexus (SCP), intermediate capillary plexus (ICP) and deep capillary plexus (DCP). While the dynamic flow through these plexuses is complex and not completely understood, current research points to a hybrid model that includes both parallel and in series components in which blood flows in a predominantly serial direction between the superficial vascular complex (SVC) and deep vascular complex (DVC). Each capillary plexus autoregulates independently, so that under most conditions the retinal vasculature supplies adequate blood flow and oxygen saturation at varying depths despite diverse environmental stressors. When the flow in the deep vascular complex (i.e. ICP and DCP) fails, an ischemic lesion referred to as Paracentral Acute Middle Maculopathy (PAMM) can be identified. PAMM is an optical coherence tomography (OCT) finding defined by the presence of a hyperreflective band at the level of the inner nuclear layer (INL) that indicates INL infarction caused by globally impaired perfusion through the retinal capillary system leading to hypoperfusion of the DVC or specifically the DCP. Patients present with an acute onset paracentral scotoma and typically experience a permanent visual defect. Lesions can be caused by a diverse set of local retinal vascular diseases and systemic disorders. PAMM is a manifestation of the retinal ischemic cascade in which the mildest forms of ischemia develop at the venular end of the DCP, i.e. perivenular PAMM, while more severe forms progress horizontally to diffusely involve the INL, and the most severe forms progress vertically to infarct the inner retina. Management is targeted toward the identification and treatment of related vasculopathic and systemic risk factors.