Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.

Inherited retinal dystrophies (IRDs) are a group of rare diseases involving more than 340 genes and a variety of clinical phenotypes that lead to significant visual impairment. The aim of this study is to evaluate the rates and genetic characteristics of IRDs in the southeastern region of the United States (US). A retrospective chart review was performed on 325 patients with a clinical diagnosis of retinal dystrophy. Data including presenting symptoms, visual acuity, retinal exam findings, imaging findings, and genetic test results were compiled and compared to national and international IRD cohorts. The known ethnic groups included White (64%), African American or Black (30%), Hispanic (3%), and Asian (2%). The most prevalent dystrophies identified clinically were non-syndromic retinitis pigmentosa (29.8%), Stargardt disease (8.3%), Usher syndrome (8.3%), cone-rod dystrophy (8.0%), cone dystrophy (4.9%), and Leber congenital amaurosis (4.3%). Of the 101 patients (31.1%) with genetic testing, 54 (53.5%) had causative genetic variants identified. The most common pathogenic genetic variants were USH2A (n = 11), ABCA4 (n = 8), CLN3 (n = 7), and CEP290 (n = 3). Our study provides initial information characterizing IRDs within the diverse population of the southeastern US, which differs from national and international genetic and diagnostic trends with a relatively high proportion of retinitis pigmentosa in our African American or Black population and a relatively high frequency of USH2A pathogenic variants.

VISUAL AND ANATOMIC OUTCOMES OF PEDIATRIC ENDOSCOPIC VITRECTOMY IN 326 CASES.

PURPOSE: To report on the indications, outcomes, and complications of endoscopic vitrectomy in a large cohort of pediatric vitreoretinal patients. METHODS: This is a retrospective interventional case series consisting of 244 eyes of 211 patients aged 18 years or younger undergoing a total of 326 endoscopic vitrectomies from 2008 to 2017. A 23-gauge vitrectomy was performed with use of a 19-gauge endoscope. RESULTS: Two hundred and eleven patients with a mean age of 7.5 years (range: 0-18 years) and median follow-up since last surgery of 28 months (range: 3 months-8.7 years) were included. The most common indication for endoscopic vitrectomy was retinal detachment (234/326; 72%) with proliferative vitreoretinopathy (162/234; 69%). Other diagnoses included trauma (25%), retinopathy of prematurity (15%), and glaucoma (9%). Twenty-five percent of surgeries (80/326) were performed on eyes with significant corneal opacities. Retinal reattachment was achieved in 67% of eyes with retinal detachment (119/178). Visual acuity improved in 26% of retinal detachment eyes versus 53% of nonretinal detachment eyes (P = 0.005). Surgical complications included band keratopathy (15%), hypotony (8%), cataract (7%), and elevated intraocular pressure (3%). CONCLUSION: In this large series of pediatric endoscopic vitreoretinal surgeries, anatomic outcomes and complication rates were comparable with previous studies.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY DETECTS SUBCLINICAL RADIAL PERIPAPILLARY CAPILLARY DENSITY REDUCTION AFTER PLAQUE RADIOTHERAPY FOR CHOROIDAL MELANOMA.

PURPOSE: To evaluate radial peripapillary capillary density (RPCD) in irradiated eyes without radiation papillopathy clinically. METHODS: Patients treated with plaque radiotherapy for unilateral choroidal melanoma without radiation papillopathy clinically received optical coherence tomography and optical coherence tomography angiography imaging at ∼12- to 24-month follow-up. Comparison of RPCD globally and meridian closest to plaque and meridian farthest to plaque of irradiated versus nonirradiated eyes was performed. RESULTS: Mean age was 55 years (n = 10). Mean largest basal diameter and thickness were 10.1 and 4.4 mm, respectively. Mean radiation dose to the optic nerve head and foveola was 41.7 and 66.2 Gy, respectively. No radiation papillopathy was detected by ophthalmoscopy throughout follow-up (mean:14 months). Radial peripapillary capillary density was significantly reduced globally (all P < 0.02). Meridian closest to plaque RPCD was significantly reduced (P < 0.01), but not meridian farthest to plaque RPCD (P = 0.07). Circumpapillary retinal nerve fiber layer thickness was not significantly reduced (P > 0.26). Radiation dose to the optic nerve head was correlated with meridian closest to plaque RPCD reduction (r = 0.76; P < 0.01). Mean radiation dose to the optic nerve head for <5% and ≥5% RPCD reductions was 35.9 ± 12.2 and 55.2 ± 6.4 Gy, respectively. CONCLUSION: Radial peripapillary capillary density reduction was found in irradiated eyes before clinical evidence of radiation papillopathy and circumpapillary retinal nerve fiber layer thickness reduction. Radial peripapillary capillary density reduction is correlated to plaque location and radiation dose to the optic nerve head.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FINDINGS OF DEEP CAPILLARY PLEXUS MICROISCHEMIA AFTER INTRAVENOUS CHEMOTHERAPY FOR RETINOBLASTOMA.

PURPOSE: To study changes in the foveal microvascular anatomy using optical coherence tomography angiography (OCTA) after intravenous chemotherapy (IVC) for retinoblastoma (RB). METHODS: A retrospective comparative case-control series included 10 age-matched normal eyes with no documented ocular pathology (control), 10 fellow eyes of patients with unilateral RB treated with IVC (RB fellow), and 10 eyes with extramacular RB in patients with bilateral RB treated with IVC (RB tumor). All eyes were scanned using enhanced depth imaging optical coherence tomography and OCTA. Enhanced depth imaging optical coherence tomography measurements of central macular thickness and subfoveolar choroidal thickness as well as OCTA measurements of foveal avascular zone (FAZ) area in superficial (sFAZ) and deep (dFAZ) plexus and capillary density (CD) in the superficial (sCD) and deep (dCD) plexus were performed. Comparison among the three groups was conducted. RESULTS: Among the three cohorts (control, RB fellow, and RB tumor), there was no difference in mean age at measurement (12, 10, and 12 years) and mean interval between last IVC and OCTA (RB fellow and RB tumor) (9, 10 years). Optical coherence tomography and OCTA revealed no significant difference in central macular thickness (all P ≥ 0.161), choroidal thickness (all P ≥ 0.066), sFAZ (all P ≥ 0.618), dFAZ (all P ≥ 0.610), and sCD (all P ≥ 0.638) comparing controls versus RB fellow, controls versus RB tumor, and RB fellow versus RB tumor. By contrast, mean dCD was significantly greater in controls (52%), compared with both RB fellow (49%, P = 0.026) and RB tumor (48%, P = 0.028) groups, but no difference was found between RB fellow and RB tumor (49% vs. 48%, P = 0.515). LogMAR visual acuity showed no difference among the three groups (all P ≥ 0.150). CONCLUSION: At mean 10-year follow-up, slight reduction in dCD seems to occur after IVC for RB without alterations in central macular thickness, choroidal thickness, FAZ, or sCD and without visual compromise.

CLINICAL FEATURES, IMAGING, AND NATURAL HISTORY OF MYELINATED RETINAL NERVE FIBER LAYER.

PURPOSE: To evaluate the natural history of myelinated retinal nerve fiber layer (MRNFL) through clinical features and enhanced depth imaging optical coherence tomography. METHODS: This is a retrospective, noncomparative, case series of patients who underwent thorough clinical examination to document associated ocular and systemic features. Enhanced depth imaging optical coherence tomography was performed when MRNFL was located posteriorly and accessible to imaging. RESULTS: Seventy-two eyes of 62 patients had a total of 86 MRNFL lesions. Enhanced depth imaging optical coherence tomography (n = 42 eyes) showed that all lesions originated in the nerve fiber layer with preservation of the vascular structures. Mean thickness by enhanced depth imaging optical coherence tomography was 255 µm (median, 182 µm; range, 61-717 µm). Natural history was obtainable in 58 lesions with a mean follow-up duration of 57 months (median, 37 months; range, 2-253 months) with no significant change overall in largest basal diameter (2.5 vs. 2.5 mm; P = 0.361) or thickness (255 vs. 240 µm; P = 0.053). However, evidence of lesion change included growth in base only (≥0.5 mm) (3 of 58; 5%), growth in base (≥0.5 mm) and thickness (≥50 µm) (3 of 58; 5%), and reduction in base (≥0.5 mm) after plaque radiotherapy for choroidal melanoma (3 of 58; 5%). CONCLUSION: In general, MRNFL is a rare, benign retinal finding with a potential for growth in 10% of cases. This supports previous histopathological reports that MRNFL represents accumulation of both myelin and oligodendrocytes and could be an oligodendrocytic choristoma.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF CONGENITAL SIMPLE HAMARTOMA OF THE RETINAL PIGMENT EPITHELIUM.

PURPOSE: To describe the optical coherence tomography angiography features of congenital simple hamartoma of the retinal pigment epithelium. METHODS: Case report. RESULTS: A 14-year-old boy was referred for an asymptomatic fundus tumor in the left eye. Visual acuity was 20/20 in the right eye and 20/40 in the left eye. The right fundus was normal. The left fundus disclosed a gray-white nodular retinal mass of 2-mm diameter in the juxtafoveal region, protruding into the vitreous cavity and causing radial retinal folds. The mass demonstrated echodensity without calcification on ultrasonography, hypoautofluorescence on short-wavelength autofluorescence, and mixed hyporeflective and hyperreflective areas on near-infrared reflectance imaging. By fluorescein angiography, the mass showed absolute hypofluorescence through the arteriovenous phase and diffuse late hyperfluorescence and staining. Optical coherence tomography revealed an optically dense lesion with abrupt posterior shadowing, whereas optical coherence tomography angiography showed an extensive haphazard intratumoral vascular network with fairly large-caliber (100-200 microns) vessels occupying full-thickness tumor, demonstrating more vascular details than visualized on fluorescein angiography. Serial segmental evaluation of the optical coherence tomography angiography en face images confirmed an intratumoral vascular network for full tumor depth down to retinal pigment epithelium, not related to projection artifact. Final diagnosis was congenital simple hamartoma of the retinal pigment epithelium. Considering the benign tumor, observation was recommended. CONCLUSION: Optical coherence tomography angiography of congenital simple hamartoma of the retinal pigment epithelium revealed an extensive intratumoral, haphazard, large-caliber vascular network, more evident than seen on fluorescein angiography. Optical coherence tomography angiography has added new insight into this rare tumor.

Visual Outcome and Millimeter Incremental Risk of Metastasis in 1780 Patients With Small Choroidal Melanoma Managed by Plaque Radiotherapy.

Importance: Early detection of choroidal melanoma at a small tumor size is emphasized in the literature. However, there is little published information on the specific risks of plaque-irradiated small choroidal melanoma on visual acuity and metastasis. Objective: To analyze outcomes of plaque radiotherapy for small choroidal melanoma 3 mm in thickness or less. Design, Setting, and Participants: This retrospective noncomparative series at a tertiary referral center included 1780 consecutive patients who had received plaque radiotherapy treatment for small choroidal melanoma. Main Outcomes and Measures: Visual acuity outcomes and melanoma-associated metastasis, assessed by Kaplan-Meier analyses. Results: The mean (SD) patient age at melanoma diagnosis was 58 (14) years. Of 1780 patients, 908 were female (51.0%), and 1752 were white (98.4%). Visual acuity was 20/40 OU or better in 1276 of the patients (71.7%), and the mean (SD) visual acuity was 20/40 (20/50) OU (median, 20/30; range, 20/20 to counting fingers). The mean (SD) tumor basal dimension was 8.8 (2.9) mm (median, 8.0 mm; range, 2.0-20.0 mm) and mean (SD) tumor thickness was 2.6 (0.5) mm (median, 2.7; range, 0.2-3.4 mm). Mean (SD) distance to the foveola was 3.4 (3.9) mm and to the optic disc was 3.7 (3.7) mm. The Kaplan-Meier rate of visual acuity loss (≥3 Snellen lines) was 9.5% (95% CI, 8.2%-11.0%) at 1 year, 39.2% (95% CI, 36.5%-42.0%) at 5 years, and 48.9% (95% CI, 45.6%-52.3%) at 10 years, whereas poor visual acuity (≤20/200) was 7.1% (95% CI, 5.9%-8.4%) at 1 year, 38.2% (95% CI, 35.5%-41.1%) at 5 years, and 53.5% (95% CI, 50.1%-57.1%) at 10 years. Regarding melanoma-associated metastasis, the rate was 0.2% (95% CI, 0.09%-0.6%) at 1 year, 4.5% (95% CI, 3.4%-5.9%) at 5 years, and 8.8% (95% CI, 6.9%-11.1%) at 10 years. Using 1.0-mm thickness increments, the 10-year risk for metastasis was 25.0% (95% CI, 3.9%-87.2%) at 0-mm to 1.0-mm thickness, 5.9% (95% CI, 2.5%-13.5%) at 1.1-mm to 2.0-mm thickness, 8.1% (95% CI, 5.9%-11.0%) at 2.1-mm to 3.0-mm thickness, and 13.4% (95% CI, 8.7%-20.4%) at thicknesses greater than 3.0 mm. The greater relative risk (RR) for metastasis in thinnest tumors was 1.83 (95% CI, 1.09-3.07), which likely represented more aggressive diffuse (flat) melanoma. By multivariable analysis, clinical features predictive of melanoma-associated metastasis included increasing patient age (RR, 1.32 [95% CI, 1.07-1.63] per decade; P = .01), tumor diameter (RR, 1.15 [95% CI, 1.06-1.24] per mm; P < .001), tumor thickness (RR, 2.22 [95% CI, 1.22-4.05] per mm; P = .01), photopsia symptoms (RR, 2.45 [95% CI, 1.35-4.43]; P = .003), and prior treatment before plaque radiotherapy (RR, 3.31 [95% CI, 1.31-8.33]; P = .01). Conclusions and Relevance: This retrospective study suggests that small choroidal melanoma treated with plaque radiotherapy has a 10-year risk for visual acuity loss of 48.9% (95% CI, 45.6%-52.3%) and a 10-risk of systemic metastasis of 8.8% (95% CI, 6.9%-11.1%). In this analysis, each millimeter of increasing thickness and diameter contributed risk for metastatic disease.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FEATURES OF CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH CHOROIDAL NEVUS.

PURPOSE: To describe the imaging features of choroidal neovascularization (CNV) associated with choroidal nevus using optical coherence tomography angiography (OCT-A) imaging. METHODS: Retrospective observational case series. Patients with CNV secondary to choroidal nevus underwent full imaging examination including fundus photography, fluorescein angiography, indocyanine green angiography, spectral domain OCT, and OCT-A. The OCT-A features were analyzed and correlated with conventional angiography findings and spectral domain OCT. RESULTS: There were 11 eyes from 11 patients (6 men and 5 women, mean age of 65 ± 20.4 years) included in the analysis. Fluorescein angiography and indocyanine green angiography disclosed CNV in 90% and 83%, respectively. Optical coherence tomography angiography displayed CNV network in 11 eyes (100%) and the pattern was classified as "sea-fan" in 8 (73%) and "long filamentous linear vessels" in 3 (27%) eyes. Distinct from CNV, intrinsic vasculature within the nevus was observed in six eyes (55%), corresponding to those with chronic retinal pigment epithelium changes. CONCLUSION: Optical coherence tomography angiography is a useful imaging technique to disclose CNV associated with choroidal nevus. Despite the presence of intraretinal or subretinal fluid and hemorrhage, OCT-A revealed the CNV in all cases, results noninferior to indocyanine green angiography. This imaging modality can be useful for analysis of long-standing nevi with related exudation.

PARAFOVEAL MICROVASCULAR FEATURES ON OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN EYES WITH CIRCUMSCRIBED CHOROIDAL HEMANGIOMA.

PURPOSE: To evaluate parafoveal microvasculature in eyes with circumscribed choroidal hemangioma using optical coherence tomography angiography. METHODS: Fourteen eyes with unilateral circumscribed choroidal hemangioma were imaged using OCT for central macular thickness and optical coherence tomography angiography for superficial and deep foveal avascular zone area, and superficial and deep capillary density (CD), comparing affected and paired fellow eyes. RESULTS: Mean patient age was 53 years, and mean visual acuity was 20/60 in the involved eye and 20/25 in the fellow eye. In the affected eye, clinical findings included cystoid macular edema (CME) in 1, parafoveal/subfoveal subretinal fluid (SRF) in three, and both CME and SRF in two eyes. OCT revealed current CME/SRF in six eyes, and normal foveal contour in eight eyes, among which five never demonstrated OCT evidence of CME or SRF. By OCT (affected vs. fellow eye), mean central macular thickness was greater in affected eyes (312 vs. 264 µm, P = 0.042). By optical coherence tomography angiography, there was no difference in superficial foveal avascular zone (P = 0.327), deep foveal avascular zone (P = 0.563), and superficial CD (P = 0.159), but mean deep plexus CD was reduced in affected eyes (50% vs. 54%, P = 0.010). Subgroup analysis showed that eyes with previous or current CME and/or SRF had reduced deep plexus CD (53% vs. 57%, P = 0.005), while eyes without previous/current CME/SRF had similar deep plexus CD (P = 0.399) compared with fellow eyes. CONCLUSION: Circumscribed choroidal hemangioma generally does not affect parafoveal inner retinal microvasculature. However, a reduction in deep plexus CD can be expected in eyes with previous or current CME/SRF.

IMAGE QUALITY AND ARTIFACTS ON OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY: Comparison of Pathologic and Paired Fellow Eyes in 65 Patients With Unilateral Choroidal Melanoma Treated With Plaque Radiotherapy.

PURPOSE: To study image quality and artifacts seen on optical coherence tomography angiography (OCTA). METHODS: Sixty-five consecutive patients with unilateral posterior uveal melanoma treated with plaque radiotherapy had OCTA during follow-up. Optical coherence tomography angiography was performed on both the affected and fellow eye. Signal strength and frequency of image artifacts on en face images were compared between affected and fellow eyes. RESULTS: A total of 130 eyes in 65 patients were analyzed, the mean age at time of OCTA was 55 years (median: 56, range: 12-81 years), and 39 (39/65, 60%) were female. Majority of tumors were located in the choroid (62/65, 95%) and extramacular (55/65, 85%). The mean distance to the foveola was 4 mm (median: 3, range: 0-18 mm) and optic nerve was 4 mm (median: 4, range: 0-16 mm). Optical coherence tomography angiography was performed at a mean 46 months after plaque radiotherapy. Most patients had a history of radiation maculopathy or papillopathy in the treated eye at the time of OCTA (46/65, 71%). Overall, 95 eyes (95/130, 73%) had at least one significant artifact on OCTA. The most common major artifacts were loss of focus (71/130, 55%), broad (>5 pixels width and >4 lines) blink lines (48/130, 37%), motion artifact (34/130, 26%), specular dot (33/130, 25%), and edge duplication (10/130, 8%). Statistically, eyes treated with plaque radiotherapy (affected vs. fellow eye) were more likely to have at least one major OCTA artifact (92 vs. 54%, P < 0.001) and, specifically, loss of focus was more frequent (78 vs. 31%, P < 0.001). Multivariate analysis found decreased visual acuity significantly associated with higher incidence of broad blink lines (P = 0.0166) and loss of signal (P < 0.0001), whereas male sex was associated with increased loss of signal (P = 0.0015), and distance to the foveola was related to edge duplication (P = 0.0119). CONCLUSION: Image artifacts on OCTA are commonly encountered and appear to be more frequent in eyes with pathology and poor visual acuity. Recognition of these artifacts might help improve image interpretation and decision making.

Conjunctival Tumors in 5002 Cases. Comparative Analysis of Benign Versus Malignant Counterparts. The 2016 James D. Allen Lecture.

PURPOSE: To evaluate frequency of conjunctival tumors in all ages and compare benign vs malignant counterparts. DESIGN: Retrospective series. METHODS: setting: Tertiary referral center. STUDY POPULATION: Total of 5002 patients. OBSERVATION: Clinical features. MAIN OUTCOME MEASURE: Differentiation of benign from malignant counterparts. RESULTS: The tumor was benign (52%), premalignant (18%), or malignant (30%). Malignant tumors included melanoma (12%), squamous cell carcinoma (SCC) (9%), lymphoma (7%), and others. Comparison of primary acquired melanosis vs melanoma revealed melanoma with greater median patient age (54 vs 61 years, P < .0001), male sex (35% vs 49%, P < .0001), location in fornix (2% vs 6%, P = .0016) and tarsus (1% vs 4%, P = .0018), larger median basal diameter (6 vs 8 mm, P < .0001) and thickness (<1 vs 1 mm, P < .0001), and intralesional cysts (0% vs 7%, P < .0001), feeder vessels (10% vs 48%, P < .0001), intrinsic vessels (4% vs 33%, P < .0001), and hemorrhage (<1% vs 3%, P = .0001). Comparison of conjunctival intraepithelial neoplasia (CIN) vs SCC revealed SCC with greater diffuse involvement (1% vs 8%, P < .0001) and larger median basal diameter (7 vs 8 mm, P < .0001) and thickness (1 mm vs 2 mm, P < .0001). Comparison of benign reactive lymphoid hyperplasia vs lymphoma revealed lymphoma with greater median patient age (50 vs 61 years, P < .0001), fornix location (32% vs 54%, P < .0001), larger median basal diameter (10 vs 20 mm, P < .0001), and less involvement of nasal region (50% vs 23%, P < .0001). CONCLUSION: In an ocular oncology practice, conjunctival tumors are benign (52%), premalignant (18%), or malignant (30%). Malignant tumors tend to occur in older patients and demonstrate greater basal diameter and thickness, compared with benign counterparts.

RHEGMATOGENOUS RETINAL DETACHMENT AFTER INTRAARTERIAL CHEMOTHERAPY FOR RETINOBLASTOMA: The 2016 Founders Award Lecture.

PURPOSE: To evaluate rhegmatogenous retinal detachment (RRD) in eyes with retinoblastoma after intraarterial chemotherapy (IAC). DESIGN: Retrospective case series. METHODS: Chart review. MAIN OUTCOME MEASURE: Development of RRD in the IAC era. RESULTS: Of 167 eyes in 157 consecutive patients, mean patient age at diagnosis of retinoblastoma was 19 months. Intraarterial chemotherapy was primary (75/167, 45%) or secondary (92/167, 55%). There were 10 eyes (10/167, 6%) that developed RRD after IAC. The RRD was mostly related to rapid tumor regression with atrophic retinal hole, occurring within one month (n = 8) or 12 months (n = 2) of IAC. Rhegmatogenous retinal detachment was found after primary (6/75, 8%) or secondary (4/92, 4%) IAC. Of primary cases, RRD was found in Group D (1/38 [3%], P = 0.1075) or Group E (5/30 [17%], P = 0.0348). For primary IAC (n = 75 eyes), RRD was found in endophytic (5/22 [23%], P = 0.0073), exophytic (0/29 [0%], P = 0.0760), or combined endophytic/exophytic pattern (1/24 [4%], P = 0.6575). A comparison of eyes with RRD (n = 10) versus without RRD (n = 157) found significant differences including greater mean age at presentation (38 vs. 18 months, P = 0.0522), greater 4-quadrant vitreous seeding (5/10, 50% vs. 27/157, 17%, P = 0.0236), and absence of subretinal fluid (3/10, 30% vs. 102/157, 65%, P = 0.0236). The cause of RRD was tumor regression-related atrophic retinal hole(s) in 7 (7/10, 70%) (unifocal [1/10, 10%] or multifocal [6/10, 60%] holes), cryotherapy-induced single atrophic hole in 2 (2/10, 20%), and single flap-tear from posterior vitreous detachment in one (1/10, 10%). In 4 (4/10, 40%) eyes with RRD, proliferative vitreoretinopathy was noted. The RRD was not related to intravitreal injection in any case, as in primary IAC no case had previous injection and in secondary IAC the injections were performed many months previously. Primary RRD repair involved pars plana vitrectomy in three, scleral buckle without drainage in one, laser barricade in one, and observation in five eyes. After 24 months mean follow-up, the retina showed complete reattachment (3/10, 30%), partial reattachment (2/10, 20%), and persistent detachment in all observed eyes (5/10, 50%). Enucleation was necessary for tumor recurrence (4/10, 40%) or neovascular glaucoma (1/10, 10%). There were no tumor-related metastases or death. CONCLUSION: After IAC for retinoblastoma, RRD occurs in 6%, mostly in advanced eyes with extensive endophytic tumor and generally from atrophic retinal hole after rapid tumor regression.

DIFFERENTIAL MACULAR FEATURES ON OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN EYES WITH CHOROIDAL NEVUS AND MELANOMA.

PURPOSE: To evaluate optical coherence tomography angiography (OCTA) characteristics of macular vascular details in eyes with choroidal nevus and melanoma, compared with unaffected contralateral eye. METHODS: Retrospective comparative analysis comprising 70 patients with choroidal nevus and 36 patients with choroidal melanoma examined with optical coherence tomography angiography. Measurements included central macular thickness (CMT), superficial (sFAZ) and deep (dFAZ) foveal avascular zone (FAZ) area, and superficial (sCVD) and deep (dCVD) capillary vascular density (CVD). RESULTS: In patients with nevus, CMT (affected vs. unaffected eye) was similar (267 vs. 265 µm, P = 0.67), whereas in patients with melanoma, CMT demonstrated greater thickness in affected eye (322 vs. 259 µm, P < 0.0001). In eyes with nevus, the FAZ (affected vs. unaffected eye) showed similar values in sFAZ (0.238 vs. 0.232 mm, P = 0.72) and dFAZ (0.284 vs. 0.271 mm, P = 0.48). In eyes with melanoma, similar values for sFAZ (0.249 vs. 0.260 mm, P = 0.73) were noted, whereas dFAZ was larger in the affected eye with macular melanoma (0.530 vs. 0.252 mm, P = 0.012) and similar in eyes with extramacular melanoma (0.300 vs. 0.285, P = 0.75). Regarding CVD (affected vs. unaffected eye), eyes with nevus showed similar sCVD (54 vs. 53.9%, P = 0.81) and dCVD (60 vs. 59.4%, P = 0.19). Reduced dCVD was found in four eyes with nevus, all with three or more risk factors for growth (P < 0.01). In eyes with melanoma, significant reduction was found in both sCVD (50.5 vs. 53.1%, P = 0.006) and dCVD (56.6% vs. 59.8%, P = 0.0003). Reduction in sCVD was related to presence of subretinal fluid (P = 0.03). Reduction in dCVD was found with subretinal fluid presence (P = 0.003) or absence (P = 0.03), with both macular (P < 0.001) and extramacular (P < 0.001) melanoma, and with increasing tumor thickness (P = 0.005). Reduced dCVD was found in 11% of eyes with nevus versus 58% of eyes with melanoma (Chi-square test: 26.31; P < 0.0001). CONCLUSION: Compared with contralateral eye, eyes with choroidal nevus demonstrate similar CMT, FAZ, and CVD. In contrast, eyes with melanoma show increased CMT, enlarged FAZ, and reduced CVD, particularly related to increasing tumor thickness. Optical coherence tomography angiography could be a useful tool in differentiating choroidal nevus from melanoma.

ALTERED PARAFOVEAL MICROVASCULATURE IN TREATMENT-NAIVE CHOROIDAL MELANOMA EYES DETECTED BY OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

PURPOSE: To determine whether parafoveal microvascular changes have occurred in choroidal melanoma eyes before radiotherapy. METHODS: A retrospective cohort study included 30 consecutive patients with unilateral choroidal melanoma. The microvascular structure was analyzed by optical coherence tomography angiography. Fellow eyes served as control for affected eyes. RESULTS: Optical coherence tomography angiography demonstrated no difference in superficial foveal avascular zone (P = 0.316), but showed significant enlargement in deep foveal avascular zone (P < 0.0001) in affected eyes as compared with fellow eyes. It also showed significant decrease in superficial (P = 0.004) and deep (P = 0.0003) capillary vascular density (CVD). In subgroup analyses, the presence of subretinal fluid contributed to significant enlargement of deep foveal avascular zone (P < 0.0001) as well as reduction in superficial (P = 0.0001) and deep (P = 0.001) CVD. By linear regression, greater tumor diameter correlated with reduction in deep CVD (y = -0.42x + 1.01, Pslope = 0.021); greater tumor thickness correlated with reduction in both superficial (y = -0.67x + 0.24, Pslope = 0.039) and deep (y = -0.82x + 0.56, Pslope = 0.002) CVD. CONCLUSION: Optical coherence tomography angiography documented significant enlargement of deep foveal avascular zone as well as reduction in superficial and deep CVD in affected eyes. These findings correlated with the presence of subretinal fluid and increasing tumor size, suggesting that tumor-related factors contribute to parafoveal microvascular ischemia.

Retinal Astrocytic Hamartoma Arises in Nerve Fiber Layer and Shows "Moth-Eaten" Optically Empty Spaces on Optical Coherence Tomography.

PURPOSE: To evaluate the specific spectral-domain (SD) optical coherence tomography (OCT) features of retinal astrocytic hamartoma (RAH) and the relationship of these features with tumor size and location. DESIGN: Retrospective case series. PARTICIPANTS: Forty-seven eyes of 42 patients with RAH. METHODS: All patients with clinically confirmed RAH were imaged with fundus photography and SD OCT. MAIN OUTCOME MEASURES: Precise OCT location of RAH features and the relationship of patient age, visual acuity, tumor size, and tumor location to the presence and size of intralesional optically empty spaces (OESs), appearing as so-called moth-eaten spaces. RESULTS: Of 42 patients with RAH, 36 (86%) had unilateral disease and 6 (14%) had bilateral disease. Systemic tuberous sclerosis complex was present in 8 patients (19%). The largest tumor (per eye) demonstrated a mean basal diameter of 3.0 mm (median, 2.0 mm) and a mean thickness of 1.9 mm (median, 1.8 mm). The mean tumor proximity to the foveola was 3.0 mm and that to the optic disc was 1.8 mm. Related features included subretinal fluid (n = 9; 19%), cystoid retinal edema (n = 6; 13%), retinal traction (n = 11; 23%), intralesional cavities (n = 28; 60%), and intralesional calcification (n = 29; 62%). On SD OCT, the tumor epicenter was in the nerve fiber layer (n = 47; 100%), with all other retinal layers appearing thinned or compressed. The tumor showed OESs (n = 43; 91%), representing intralesional calcification or cavitation, and each OES showed a mean diameter of 327 µm (median, 200 µm). When comparing the number of OESs per SD OCT cut through the mass, we found no relationship with patient age, tumor diameter and thickness, distance to the foveola or optic disc, tumor calcification, central macular thickness, or logarithm of the minimum angle of resolution (logMAR) visual acuity. However, a correlation of OES number with OES size (P = 0.01) and macular tumor location (P = 0.03) was found. Further analysis demonstrated OES size correlated with tumor basal diameter (P < 0.01), tumor thickness (P < 0.01), tumor calcification (P = 0.01), and logMAR visual acuity (P = 0.02). CONCLUSIONS: Retinal astrocytic hamartomas arose in the nerve fiber layer in every case and demonstrated moth-eaten OES, related to intrinsic calcification or cavitation, in 91% of cases. Macular tumors have a greater number of OESs, whereas larger calcified tumors have larger OES diameter.

SUBMILLIMETER CHOROIDAL MELANOMA DETECTION BY ENHANCED DEPTH IMAGING OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH OCULODERMAL MELANOCYTOSIS.

PURPOSE: To describe a tiny subclinical choroidal melanoma visualized only with enhanced depth imaging optical coherence tomography in a newly symptomatic patient with known oculodermal melanocytosis. METHODS: Case report. RESULTS: A 52-year-old white man with heterochromia and known oculodermal melanocytosis of the right eye, followed for 2 years without change, developed blurred vision and was referred for possible central serous chorioretinopathy. On examination, visual acuity was 20/20 in each eye. There was oculodermal melanocytosis in the right eye involving the periocular skin, episclera, iris, and choroid. On ophthalmoscopy and ocular ultrasonography, there was no appreciable mass, but subtle subfoveal fluid and perifoveal orange pigment were detected, as well as equatorial drusen. Enhanced depth imaging optical coherence tomography demonstrated a subtle optically dense focal choroidal mass measuring 4.5 mm in basal dimension and 0.7 mm in enhanced depth imaging optical coherence tomography thickness. There was choroidal vascular compression, obliteration of choroidal details, and related overlying subretinal fluid with shaggy photoreceptors, consistent with early choroidal melanoma in an eye with oculodermal melanocytosis. The patient elected early treatment considering the risk factors for growth and the risk for metastasis associated with melanoma in the setting of oculodermal melanocytosis. Plaque radiotherapy was performed with complete tumor regression clinically and by enhanced depth imaging optical coherence tomography. At 2-year follow-up, visual acuity remains 20/20, with regressed tumor and no systemic metastasis. CONCLUSION: Enhanced depth imaging optical coherence tomography is a useful tool in the evaluation of eyes with oculodermal melanocytosis, permitting high-resolution visualization of the choroid and detection of submillimeter early melanoma that might not be apparent with indirect ophthalmoscopy or ultrasonography.

CORRELATION OF FOVEAL AVASCULAR ZONE SIZE WITH FOVEAL MORPHOLOGY IN NORMAL EYES USING OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

PURPOSE: To analyze the foveal avascular zone (FAZ) in normal eyes using optical coherence tomography angiography. METHODS: Prospective noncomparative case series. The parafoveal region of 70 eyes from 67 healthy subjects was imaged using optical coherence tomography angiography to visualize the superficial and deep capillary plexuses and correlated with standard macular volume scans using spectral domain optical coherence tomography to determine foveal morphology. RESULTS: In all 70 eyes imaged, 2 vascular plexuses could be detected within the retina: a superficial plexus within the ganglion cell layer and a deep plexus within the inner nuclear layer. A measurable FAZ was visualized in both plexuses in all imaged eyes. The FAZ area was variable in the study population with a mean of 0.266 mm² ± 0.097 mm² in the superficial plexus (range: 0.071 mm²-0.527 mm²) and a mean of 0.495 mm² ± 0.227 mm² in the deep plexus (range: 0.160 mm²-0.795 mm²). The FAZ area was significantly larger in the deep plexus (P < 0.0001) compared with superficial plexus. The FAZ area in both plexuses correlated inversely with central macular thickness and central macular volume (P < 0.0001). No significant correlation was found between superficial plexus FAZ area and age (P = 0.55) or sex (P = 0.34). In the same manner, no significant correlation was found between deep plexus FAZ area and age (P = 0.13) or sex (P = 0.13). CONCLUSION: Optical coherence tomography angiography provides a noninvasive method to visualize and measure the superficial and deep plexus FAZ in a normal population. The FAZ can vary in size and shape, with the FAZ area significantly larger in the deep compared with the superficial plexus. Both superficial and deep FAZ area correlate inversely with foveal thickness and volume.

NEWLY DIAGNOSED ACTIVE RETINOBLASTOMA IN ADULTS.

PURPOSE: To describe the clinical features, treatment, and outcome of retinoblastoma in adults. METHODS: Retrospective case series. RESULTS: The mean age at initial presentation of retinoblastoma was 30 years (median, 26 years; range, 22-48 years). There were four males and four females, and all manifested unilateral retinoblastoma. The mean duration of symptoms was 22 months (median, 12 months; range, 1-100 months). Six patients had intraocular retinoblastoma, and 2 had secondary orbital involvement. The eyes with intraocular retinoblastoma were classified according to the International Classification of Retinoblastoma as Group D (n = 3) or Group E (n = 3). The primary treatment for intraocular retinoblastoma (n = 6) included systemic chemotherapy (n = 1), external beam radiotherapy (n = 2), and enucleation (n = 3). Secondary treatment for tumor recurrence included enucleation (n = 2), and combination of intraarterial chemotherapy, intravitreal chemotherapy, and plaque radiotherapy (n = 1). The eyes with orbital extension of retinoblastoma were classified according to the International Retinoblastoma Staging System as Stage 3a (n = 2). The primary treatment for those with orbital extension of retinoblastoma included multimodality treatment (combination of systemic chemotherapy, orbital exenteration, and external beam radiotherapy). Systemic metastasis and related death occurred in one case. CONCLUSION: Retinoblastoma in adults is uncommon. Active tumor in this age group is usually advanced, necessitating enucleation and/or orbital exenteration.