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BACKGROUND/PURPOSE To describe the association between autosomal dominant Best disease and peripapillary angioid streak-like changes. METHODS Case report of two siblings. RESULTS A 76-year-old Caucasian male was referred for evaluation of bilateral macular changes and worsening visual distortion over the preceding 2 years. Best corrected visual acuity (BCVA) measured 20/30 in the right eye and 20/80 in the left eye. Funduscopic examination revealed multifocal yellow lesions in the posterior pole that were hyper-autofluorescent on short-wavelength excitation and corresponded with subretinal hyperreflective material on optical coherence tomography. The posterior pole examination was interesting due to the juxtapapillary involvement of the vitelliform lesions as well as the presence of bilateral peripapillary angioid streak-like changes despite no history of conditions associated with angioid streaks. On further workup, an electro-oculogram revealed reduced Arden ratios and a known heterozygous missense mutation in BEST1 (c.903T>G; p.D301E) was found. The patient's 69-year-old younger brother was brought in and found to have a remarkably similar phenotype, including the presence of angioid streak-like changes associated with the same BEST1 mutation. CONCLUSIONS These two cases demonstrate the possibility of late-onset multifocal vitelliform disease due to dominantly inherited BEST1. A consistent phenotype in this family with macular lesions extending into the peripapillary region, associated with angioid streak-like changes, suggests susceptibility of this region to changes in dominant BEST1-vitelliform macular dystrophy.

International audience; Purpose: The purpose of this study was to validate a new automated method to locate the fovea on normal and pathological fundus images. Compared to the normative anatomic measures (NAMs), our vessel-based fovea localization (VBFL) approach relies on the retina's vessel structure to make predictions. Methods: The spatial relationship between the fovea location and vessel characteristics is learnt from healthy fundus images and then used to predict fovea location in new images. We evaluate the VBFL method on three categories of fundus images: healthy images acquired with different head orientations and fixation locations, healthy images with simulated macular lesions, and pathological images from age-related macular degeneration (AMD). Results: For healthy images taken with the head tilted to the side, the NAM estimation error is significantly multiplied by 4, whereas VBFL yields no significant increase, representing a 73% reduction in prediction error. With simulated lesions, VBFL performance decreases significantly as lesion size increases and remains better than NAM until lesion size reaches 200 degrees 2. For pathological images, average prediction error was 2.8 degrees, with 64% of the images yielding an error of 2.5 degrees or less. VBFL was not robust for images showing darker regions and/or incomplete representation of the optic disk. Conclusions: The vascular structure provides enough information to precisely locate the fovea in fundus images in a way that is robust to head tilt, eccentric fixation location, missing vessels, and actual macular lesions. Translational Relevance: The VBFL method should allow researchers and clinicians to assess automatically the eccentricity of a newly developed area of fixation in fundus images with macular lesions.

Introduction: This study aimed to analyze macular structure by using spectral-domain optical coherence tomography (SD-OCT) in a cohort of patients affected by autosomal recessive retinitis pigmentosa and Usher syndrome, due to genetic variants in USH2A gene, and to correlate optical coherence tomography (OCT) parameters with functional and genetic data. Methods: The subjects of this study were 92 patients, 46 syndromic (Usher syndrome type IIa [Ush2]) and 46 nonsyndromic (autosomal recessive RP [arRP]), with clinical and genetic diagnosis of USH2A-related retinal dystrophy, who underwent a complete ophthalmic examination and spectral-domain OCT analysis. The study focused on evaluating the differences between the 2 groups in the following parameters: best-corrected visual acuity (BCVA), ellipsoid zone (EZ) width, presence of epiretinal membrane (ERM), and cystic macular lesions (CMLs). Variants in USH2A gene were divided into 3 categories, according to the expected impact (low/high) at protein level of the different variants on each allele. Results: BCVA and EZ width were significantly lower in Ush2 than in arRP patients (p < 0.0001 and p = 0.001). ERM was detected in 34.8% (16/46) of arRP patients and in 65.2% (30/46) of Ush2 patients (p = 0.003). CML was detected in 17.4% (8/46) of arRP patients and 30.4% (14/46) of Ush2 patients (p = 0.14). The allelic distribution was statistically different (p = 0.0003) by dividing the 2 diseases: for Ush2 patients it was 45.7% (high/high), 39.1% (low/high) and 15.2% (low/low); for arRP patients it was 8.7% (high/high), 56.5% (low/high), and 34.8% (low/low). The severity class of the variants significantly affected visual acuity and EZ width parameters (p = 0.004 and p = 0.002, respectively). Conclusion: Retinal disease, as evaluated by means of SD-OCT, shows more advanced degeneration signs in the syndromic than the nonsyndromic form of retinal dystrophy related to USH2A gene. Variant types and allelic profiles are determining factors for the onset of syndromic features. However, since the 3 allelic profiles can be found in both Usher and RP patients, other factors must necessarily play a determining role.

Background COVID‐19 is associated with several cutaneous manifestations, including chilbain‐like lesions, urticaria, erythema multiforme, and maculopapular lesions. Dermatoses may be directly linked to the viral infection or also represent a consequence of systemic therapies administrated for COVID‐19. A potential role of SARS‐CoV‐2 in triggering the reactivation of other viruses, such as HHV‐6, HHV‐7 and Epstein‐Barr virus has been hypothesized. Objective To better understand and hypothesize possible pathogenetic correlations of COVID‐19 with other dermatological conditions. Methods We report the case of an 83‐year‐old woman hospitalized in a nursing home for several years. On November 2020, the patient had been diagnosed with SARS‐CoV‐2 infection, with repeated positive swabs until January 2021. After a month, new‐onset asymptomatic cutaneous purplish macular lesions and violaceous patches occurred bilaterally on the feet. Results An incisional cutaneous biopsy and the histological examination of the plantar lesion revealed the diagnosis of Kaposi Sarcoma. Conclusion We report a unique case of new‐onset bilateral Kaposi's sarcoma following COVID‐19, speculating on a possible role of SARS‐CoV‐2 in the reactivation of human herpes virus‐8 (HHV‐8) infection.

Purpose To describe two patients with giant cell arteritis who presented with macular lesions mimicking persistent placoid maculopathy. Methods Retrospective case reports. Patient Two patients, a 74-year-old man and an 85-year-old woman both were diagnosed with biopsy-confirmed giant cell arteritis with vision loss in one eye due to arteritic ischemic optic neuropathy. Both presented many years later with acute vision loss in the remaining eye. Results Both patients had bilateral retinal whitening in the parafovea, and the second also had sectoral optic disk swelling. On fluorescein angiography, these areas of retinal whitening in both patients were hypofluorescent early with late hyperfluorescence staining. On indocyanine green angiography, there were areas of foveal hypocyanescence bilaterally in both patients that persisted throughout the imaging and were more apparent late. These findings can be seen in patients with bilateral persistent placoid maculopathy. Conclusion Giant cell arteritis should be included in the differential diagnosis of persistent placoid maculopathy.

Aim: To report an uncommon case of optic disc and multiple choroidal metastases secondary to breast cancer, assessed with swept source optical coherence tomography (SS-OCT), fluorescein (FA), and infracyanine (ICGA) angiographies. Methods: Observational case report. Case presentation: A 40-year-old woman with history of left breast carcinoma presented with blurred vision in her right eye (RE). Her visual acuity was 1/20 in the RE and 10/10 in the left eye. Fundus examination of the RE showed a large yellowish elevation of the posterior pole and a particular whitish nodular papillary cluster protruding from the optic disc into the vitreous. Infrared imaging enhanced the papillary nodular infiltrates. Characteristic findings of choroidal metastasis were noted within the macular lesion on SS-OCT and ICGA. SS-OCT showed specific “lumpy bumpy” irregularity of the anterior surface of the choroid and elevated hyperreflective nodular lesions of the optic disc associated to peripapillary subretinal fluid. The papillary lesions appeared as a bunch of hypofluorescent dots on both FA and ICGA, and ultra-wide field FA was helpful clearly delimiting the large macular lesion. Besides, comprehensive imaging and especially ICGA could detect two asymptomatic choroidal metastases in a systematic assessment of the fellow eye. Conclusion: Optic disc metastases are extremely rare. Their diagnosis can be easily done on fundus examination when presenting with characteristic whitish cluster nodular infiltrates of the optic disc. However multimodal imaging remains very useful for the assessment of the local extension of the lesion and for diagnosing associated asymptomatic choroidal lesions gone unnoticed at the fundus examination.

To measure the lesion size reduction in eyes with active toxoplasma retinochoroiditis during the disease course with swept-source optical coherence tomography angiography (SS-OCTA). We retrospectively analysed the chorioretinal lesion size in a group of 14 eyes with a single active toxoplasma retinochoroiditis lesion. SS-OCTA was performed at the baseline and follow-up in all eyes. The 6 × 6 mm choriocapillaris slab images were evaluated with image analysis (MATLAB). The number of black and white pixels in a 1500-µm-diameter circle centred on each active lesion was counted at the time of baseline examination and at the first follow-up visit when the chorioretinal scar formation was noticed. Fourteen eyes with a single active toxoplasmosis retinochoroiditis lesion were included. Ten patients were female and three were male. The mean age was 29.1 ± 14.9 years. Active lesions were at the macula in five eyes, at the periphery in six eyes and juxtapapillary in three eyes. At the initial examination, the lesion area was observed as an area with a decreased flow signal on SS-OCTA. There was the perilesional capillary disruption in superficial and deep capillary plexi together with a diffuse capillary network attenuation and non-detectable flow signal zones in the choriocapillaris slabs. In addition to sulfamethoxazole-trimethoprim and azithromycin combination, oral corticosteroids were only co-administered in five (35%) eyes with macular involvement. The chorioretinal scar formation was observed in 4 to 16 weeks. At the time of inactivity, the original lesion was diminished in size when compared to its baseline in all study eyes (p = 0.001) with a mean black pixel reduction percentage of 21.8%. The reduction was 15.4% in eyes with macular lesion, 31.6% with peripheral lesions and 18.1% with juxtapapillary lesions (p = 0.001, p = 0.032, p = 0.028, p = 0.043, respectively). Visual acuity was correlated with black pixel reduction percentage in eyes with macular lesion (r = 0.56, p

PURPOSE To report a case of pediatric vascularized sarcoid choroidal granuloma complicated by placoid-like inflammation. METHODS Case report. RESULTS A 10-year-old girl presented with blurry vision in her right eye and a yellowish macular lesion that had been diagnosed as fibrotic choroidal neovascular membrane and observed for several months. On referral to our clinic, optical coherence tomography revealed a homogeneous hyperreflective lesion obliterating the choroidal vasculature and protruding under the retina with associated subretinal and intraretinal fluid. Optical coherence tomography angiography revealed vascularization of this granulomatous lesion, and the girl underwent six intravitreal injections of anti-vascular endothelial growth factor, with reabsorption of the fluid and consolidation of the lesion. A sudden, abrupt decrease in the visual acuity of the right eye 3 months after the last injection was accompanied on optical coherence tomography by hyperreflective inflammatory lesions breaking from the retinal pigment epithelium and involving the outer nuclear layer, all around the fibrotic granulomatous lesion. The girl was treated with oral steroids, and an extensive systemic evaluation revealed hilar adenopathy, thus posing the diagnosis of pediatric sarcoidosis complicated by placoid chorioretinopathy. CONCLUSION Atypical presentations of typical uveitic diseases are quite common in children. The presence of a foveal vascularized granuloma complicated by a placoid disorder should prompt the exclusion of infectious etiologies such as tuberculosis, to establish a therapy to preserve the child's vision.

Purpose Optical coherence tomography (OCT) is a non-invasive method for diagnosis and monitoring of retinal (typically, macular) conditions. The unfamiliar nature of OCT images can present considerable challenges for some community optometrists. The purpose of this research is to develop and assess the efficacy of a novel internet resource designed to assist optometrists in using OCT for diagnosis of macular disease and patient management. Methods An online tool (OCTAID) has been designed to assist practitioners in the diagnosis of macular lesions detected by OCT. The effectiveness of OCTAID was evaluated in a randomised controlled trial comparing two groups of practitioners who underwent an online assessment (using clinical vignettes) based on OCT images, before (exam 1) and after (exam 2) an educational intervention. Participants’ answers were validated against experts’ classifications (the reference standard). OCTAID was randomly allocated as the educational intervention for one group with the control group receiving an intervention of standard OCT educational material. The participants were community optometrists. Results Random allocation resulted in 53 optometrists receiving OCTAID and 65 receiving the control intervention. Both groups performed similarly at baseline with no significant difference in mean exam 1 scores (p = 0.21). The primary outcome measure was mean improvement in exam score between the two exam modules. Participants who received OCTAID improved their exam score significantly more than those who received conventional educational materials (p = 0.005). Conclusion Use of OCTAID is associated with an improvement in the combined skill of OCT scan recognition and patient management decisions.

Background Benign embryonal nephromas have been documented in rabbits. However, only one case of nephroblastoma with concurrent metastasis (pulmonary), a postmortem incidental finding, has been published. Case presentation A 3-year-old neutered male Dutch rabbit (Oryctolagus cuniculus) was referred for assessment of a firm mass located in the mid-dorsal abdomen. Abdominal ultrasonography confirmed a large soft tissue mass of suspected renal origin. A left-sided nephrectomy was performed via a ventral midline approach. Multiple white macular lesions, hyperemia, and petechiae were observed in the mesenteric fat surrounding the spleen. Histopathological examination of the abnormal kidney and the mesenteric fat revealed microscopic findings consistent with an embryonal nephroma exhibiting distinct features of malignancy. At 6- and 12-month postsurgery, ultrasonographic evidence of tumor recurrence was not observed. Conclusion and case relevance This is the first report of successful treatment of an embryonal nephroma showing malignant behavior and metastasis to the surrounding adipose tissue with a minimum postoperative survival time of 12 months and no ultrasonographic evidence of local recurrence.

BACKGROUND AND OBJECTIVE: Torpedo maculopathy (TM) is a rare macular lesion involving the retinal pigment epithelium (RPE). This paper describes a retrospective case report of TM. In addition, the authors present a comprehensive systematic review of 110 cases found in the literature. PATIENTS AND METHODS: A search for the term “torpedo maculopathy” was conducted on PubMed, Embase, and Web of Science databases and yielded 62 relevant studies. RESULTS: The majority of cases in the literature, including this case, reported an asymptomatic hypopigmented temporal lesion with occasional satellite lesions. Fluorescein angiography generally revealed hypofluorescence, whereas optical coherence tomography demonstrated RPE thinning as well as choroid hyperreflectivity. CONCLUSIONS: This is the largest systematic review of torpedo maculopathy to date. The authors' findings confirm that it is a benign, nonprogressive, predominantly unilateral temporal lesion thought to arise during macular development. [ Ophthalmic Surg Lasers Imaging Retina . 2021;52:78–83.]

Purpose To evaluate chronological changes in choroidal thickness in a patient with pachychoroid pigment epitheliopathy (PPE) who was later diagnosed with central serous chorioretinopathy (CSC) during follow-up. Methods Case report. Results A 43-year-old man complained of metamorphopsia in the left eye. Funduscopy showed several punctate white subretinal lesions at the macula, but no macular serous retinal detachment in the left eye. Retinal pigment epithelium abnormality without serous retinal detachment at the macula on optical coherence tomography and choroidal vascular hyperpermeability on indocyanine green angiography suggested PPE in the left eye. Macular lesions disappeared with no treatment. Twenty-five months after the initial visit, PPE recurred in the left eye. Thirty-five months after the initial visit, the patient was diagnosed with CSC in the left eye. Macular serous retinal detachment spontaneously resolved. In the eye with PPE and CSC, the choroid was consistently thicker than that in the fellow eye during follow-up. The choroid became thicker during the alternate onsets of PPE and CSC and thinner after regression of these diseases. Conclusion These results suggest that PPE and CSC overlap clinically and choroidal thickening is involved in the pathogenesis of both diseases.

In macular forms of pauci-bacillary (PB) leprosy as the dermal infiltrate is less, greater precision in evaluation is needed both for diagnosis, and for assessment of the efficacy of treatment. With this in view, a new numerical grading system on a scale from 0-4, with intervening decimals, was recently published to describe each specific pathology of the dermal nerves and appendages. This retrospective study of smear negative macular lesions, has utilized this grading system for comparison and follow up. Fifteen new patients with PB macular leprosy (TT, BT) were divided into two groups – Group A without deformity (ten patients), and Group B with deformity (five patients). All the patients had pre-treatment scalpel biopsies. In the pre-treatment biopsies in Group B the average grade of dermal granuloma was 1.3 compared to 0.5 in Group A. Two patients in Group A who were given daily Rifampicin and Dapsone for five and six months respectively, showed marked reduction in the infiltrate. In many biopsies a linear serpiginous infiltrate (horizontal) was present in the superficial dermis. This new grading system is useful for quantifying the dermal pathology in PB macular leprosy, for comparison of duration of treatment, or evaluation of newer drugs in studies, and for assessing resolution of the lesion by the pathologist. Keywords: Macular leprosy (PB), Histological grading, Dermal granuloma, Neural infiltrate and destruction, Linear serpiginous infiltrate.

We report the case of an infant of 26 weeks' gestational age who suddenly developed a macular lesion following laser treatment for retinopathy of prematurity (stage 3, zone II with plus disease). The appearance and subsequent resolution of the lesion was documented using serial ocular coherence tomography and fundus photography.

After a 2015 outbreak, 23% of patients had retinochoroiditis, indicating that patients with acquired toxoplasmosis should have long-term follow-up, regardless of initial ocular involvement., In 2015, an outbreak of presumed waterborne toxoplasmosis occurred in Gouveia, Brazil. We conducted a 3-year prospective study on a cohort of 52 patients from this outbreak, collected clinical and multimodal imaging findings, and determined risk factors for ocular involvement. At baseline examination, 12 (23%) patients had retinochoroiditis; 4 patients had bilateral and 2 had macular lesions. Multimodal imaging revealed 2 distinct retinochoroiditis patterns: necrotizing focal retinochoroiditis and punctate retinochoroiditis. Older age, worse visual acuity, self-reported recent reduction of visual acuity, and presence of floaters were associated with retinochoroiditis. Among patients, persons >40 years of age had 5 times the risk for ocular involvement. Five patients had recurrences during follow-up, a rate of 22% per person-year. Recurrences were associated with binocular involvement. Two patients had late ocular involvement that occurred >34 months after initial diagnosis. Patients with acquired toxoplasmosis should have long-term ophthalmic follow-up, regardless of initial ocular involvement.

Purpose Congenital macular lesions attributed to toxoplasmosis may limit potential visual acuity. The appearance and location of these scars may cause physicians to overlook associated amblyopia. This study reviews the visual outcomes and benefits of amblyopia therapy in children with foveal toxoplasmosis scars. Design Retrospective observational case series. Methods S etting : Single center. P atient Population : Children with presumed foveal toxoplasmosis scars who underwent amblyopia treatment. M ain Outcome Measure : Charts were reviewed for amblyopia treatment, fundus photographs, optical coherence tomography (OCT), and visual acuity. Results Median age at presentation was 2.8 years and median follow-up was 6.2 years. Occlusion therapy was undertaken in 9 patients. Median duration of occlusion therapy was 1.7 years. Six patients improved with occlusion therapy (average 4.6 lines gained on optotype acuity). Final visual acuity ranged from 20/25 to 20/250, with 6 of 8 patients better than 20/80. OCT confirmed macular scars in 5 patients, with varying degrees of foveal architecture disruption. Conclusion Despite the striking appearance of the lesions in patients with presumed foveal toxoplasmosis, visual potential may be better than expected. The appearance of the lesions is not always predictive of visual outcome. A trial of occlusion therapy to treat amblyopia should be initiated in these patients to ensure that they reach their maximal visual potential.

Background Optical coherence tomography (OCT) is considered as a sensitive and noninvasive tool to evaluate the macular lesions. In patients with diabetes mellitus (DM), the existence of diabetic macular edema (DME) can cause significant vision impairment and further intravitreal injection (IVI) of anti-vascular endothelial growth factor (VEGF) is needed. However, the increasing number of DM patients makes it a big burden for clinicians to manually determine whether DME exists in the OCT images. The artificial intelligence (AI) now enormously applied to many medical territories may help reduce the burden on clinicians. Methods We selected DME patients receiving IVI of anti-VEGF or corticosteroid at Taipei Veterans General Hospital in 2017. All macular cross-sectional scan OCT images were collected retrospectively from the eyes of these patients from January 2008 to July 2018. We further established AI models based on convolutional neural network architecture to determine whether the DM patients have DME by OCT images. Results Based on the convolutional neural networks, InceptionV3 and VGG16, our AI system achieved a high DME diagnostic accuracy of 93.09% and 92.82%, respectively. The sensitivity of the VGG16 and InceptionV3 models was 96.48% and 95.15%., respectively. The specificity was corresponding to 86.67% and 89.63% for VGG16 and InceptionV3, respectively. We further developed an OCT-driven platform based on these AI models. Conclusion We successfully set up AI models to provide an accurate diagnosis of DME by OCT images. These models may assist clinicians in screening DME in DM patients in the future.

Purpose The occurrence of relative afferent pupillary defect (RAPD) secondary to optic nerve diseases and widespread retinal disorders is well established. However, only very few reports of RAPD in macular disorders exist in the literature. In this study, we used automated pupillometer to evaluate RAPD in eyes with macular lesions. Methods It was a prospective cross-sectional study. A total of 82 patients with choroidal neovascular membrane (CNVM) - 65 unilateral and 17 bilateral macular lesions - were enrolled. RAPD was assessed with an automated pupillometer and macular lesions evaluated with optical coherence tomography (OCT). The length of the ellipsoid zone disruption was measured as the longest length of lesion on the horizontal raster scans and the area of macular lesion was measured manually, mapping the affected area of ellipsoid zone on the enface images. Results : RAPD scores showed good correlation with the intereye difference in length of maximum ellipsoid zone disruption (r-value = 0.84, P value

A 44-year-old woman noticed bilateral irregular scotomata associated with photopsias of 6-month duration. Ophthalmoscopic examination demonstrated multiple bilateral, pericentral, hypopigmented, petaloid, macular lesions evident on Amsler grid associated with paracentral hyperreflective lesions on optical coherence tomography in the outer plexiform and nuclear layers. Indocyanine green angiography revealed patches of choroidal ischemia consistent with acute macular neuroretinopathy.

Purpose To report on the etiologies and prognosis of macular hole (MH) in children and to explore the indicators of spontaneous hole closure and poor final visual outcome (vision worse than 20/200). Design Consecutive, retrospective case series. Methods A consecutive series of patients aged less than 16 years with a full-thickness macular hole treated from 2013 to 2019 in a singer tertiary center was retrospectively reviewed. Data collected from charts included age, sex, best-corrected visual acuity (BCVA), etiology of MH, size of MH, clinical findings, operations, and anatomic and functional outcomes. Logistic regression models were built to establish the predisposing factors. Results Forty eyes of 40 patients were included. Patients were predominantly male with a mean age of 8.3 years. Among the etiologies, trauma prevailed in 29 (72.5%) eyes. Twenty-nine patients underwent surgery, and 18 (62.1%) had traumatic MH. All had achieved hole closure. BCVA improved at the final visit. Spontaneous closure was found in 10 (25%) eyes after an average 2 months after trauma. Regression analysis showed that a relatively smaller macular hole (P = .006) was likely to experience spontaneous closure. Presence of macular lesions (P = .001) was identified as risk factor for poor final vision. Conclusions Most pediatric MH was caused by blunt trauma. BCVA improved after MH closed, regardless of surgery or spontaneous closure. Smaller MH secondary to trauma was more likely to experience spontaneous closure with an average time of 2 months. Presence of macular lesions was a risk factor for final poor vision.

Purpose To characterize evolution of macular injury from a high-powered blue handheld laser using multimodal imaging and describe successful surgical treatment. Methods Observational clinical case report. Results A 17-year-old boy presented with unilateral acute loss of vision with discrete white macular lesions, full-thickness disruption of retinal layers, and hyperreflective material at the fovea on optical coherence tomography caused by exposure to a 445 nm blue-light handheld laser with power up to 2,000 mW characterized as a Class IV laser. The injury evolved into an approximately 950-μm full-thickness macular hole 3 weeks later with visual acuity of 20/400. Vitrectomy and internal limiting membrane peel resulted in anatomic success and final vision at 4 months of 20/25. Conclusion High-powered lasers can induce significant disruption of retinal layers, inflammatory debris, and full-thickness macular holes with momentary exposure that, despite poor anatomic prognostic factors, can have successful surgical outcomes.

The various lesions seen in the clinical presentation of post kala-azar dermal leishmaniasis (PKDL) are reflected in the histopathology of the type of lesion biopsied. The cells that form the dermal infiltrate include lymphocytes, histiocytes, and plasma cells in varying proportions. The infiltrate, which is mild and confined to the superficial dermis in macular lesion becomes denser with the increasing severity of the lesion. Leishman–Donovan bodies (LDB) in general are rarely demonstrable in macules and somewhat infrequently in the rest, though at times they may be numerous; mucosal lesions offer a greater chance of visualizing LDB than biopsies from the skin. A characteristic histomorphology in nodules is prominent follicular plugging with a dense plasma cell-rich lymphohistiocytic dermal infiltrate that shows an abrupt cut-off in the lower dermis, an appearance highly suggestive of PKDL even in the absence of LDB. Russell bodies within plasma cells, vascular changes, and xanthoma-like hue have been seen in plaques from chronic PKDL. The histopathologic picture in some may also mimic that seen in tuberculoid and lepromatous leprosy, and other granulomatous dermatoses. In contrast to Indian PKDL, epithelioid cell granulomas with giant cells are more common in African PKDL, and vascular changes are rare though neuritis showing LDB has been described.

BACKGROUND: Neonatal tuberous sclerosis complex is an autosomal dominant inherited disease characterized by high rate of neurological, cardiac and skin manifestations. CASEPRESENTATION: We reported a 4 days old female neonate with respiratory distress, tachypnea, tachycardia and hypomelanotic macular lesions. Her chest X-ray and echocardiographic studies revealed cardiomegaly and multiple echogenic masses in the left and right ventricles, suggestive of cardiac rhabdomyoma. Furthermore, non-contrast brain magnetic resonance imaging revealed sub-ependymal nodules and cortical tubers. Therefore, a clinical diagnosis of neonatal tuberous sclerosis complex with heart failure was made. Then, the patient was initiated on diuretic treatment with oxygen by nasal catheter with subsequent improvement. Seizure was not occurred yet in the last three and half years of follow-up. Currently, the patient is thriving well with no symptoms.CONCLUSION: Detection of prenatal or early neonatal age, cardiac rhabdomyoma is a useful clue to the diagnosis of tuberous sclerosis complex in neonates. Proper clinical evaluation of patients at the time of first contact prevents missing of findings such as skin macules and chest X-ray findings, which helped us to diagnose tuberous sclerosis complex in the present case.

PURPOSE To report a case of a neurofibromatosis Type 2 with unusual clinical features. METHODS Observational clinical case report. RESULTS A 22-year-old woman was referred with bilateral blurred vision and macular "scars." Ocular examination revealed bilateral posterior subcapsular and cortical cataract, optic disk swelling, hyperpigmented macular lesions, epiretinal membrane, and macular temporal dragging. Spectral-domain optical coherence tomographic imaging showed bilateral epiretinal membranes, peripapillary nerve fiber layer thickening, and vitreoretinal tractional bands. In the right eye, focal choroidal excavation was noted at the site of the macular lesion. In fluorescein angiography, mild vascular leakage, capillary nonperfusion, and ground glass hyperfluorescence was seen in temporal periphery of the right eye. Brain imaging showed intracranial calcification and vestibular schwannoma, which was removed by a neurosurgeon. A clinical diagnosis of neurofibromatosis Type 2 was made. CONCLUSION A case of neurofibromatosis Type 2 with some possibly novel or rare findings, namely, focal choroidal excavation, ash leaf spots, and intracranial calcifications was presented.

Purpose To report best vitelliform macular dystrophy (BVMD) with an intriguing pattern of vascular flow on optical coherence tomography angiography (OCTA). Methods Four eyes of two patients with BVMD were evaluated. Complete ophthalmic examination including best corrected visual acuity (BCVA), spectral domain optical coherence tomography (SD-OCT), and OCTA were performed. Diagnosis was confirmed by electroretinography (ERG) and electrooculography (EOG) testing. Results All eyes had the electrophysiologic confirmation of the BVMD. The first patient was 35 years old with BCVA of 20/20 and pseudohypopyon stage macular lesion in right eye (RE) and BCVA of 20/32 and vitelliruptive stage macular lesion in the left eye (LE). The second patient was 18 years old with BCVA of 20/25 and macular lesion in vitelliform stage in the RE and BCVA of 20/60 and choroidal neovascularization (CNV) in the LE. In all eyes, a distinct foveal avascular zone (FAZ) was not detectable in OCTA, with a bridging vessel in the FAZ. A dense subretinal capillary network compatible with CNV in the LE of second patient was observed. Conclusion In our cases, we found bridging vessel in the FAZ, and it may be due to the effects of bestrophin on the calcium content and vascular endothelial growth factor (VEGF) secretion of the retinal pigment epithelium (RPE) cells.

Acute macular neuroretinopathy (AMN) is a rare retinal disease that produces transient or permanent visual impairment and occurs predominantly in young, Caucasian women of childbearing age. It is often characterized by wedge-like macular lesions. Although the cause of AMN is unknown, recent research suggests a microvascular etiology. Various vascular pathologies, including post-viral illness, oral contraceptives, and use of vasoconstrictive agents, have been associated with AMN. We present a case of a woman with C-shaped visual field defects in both eyes after inadvertent exposure to intravenous high-dose epinephrine during onset of spinal anesthesia. At present, only 8 cases of AMN after exposure to epinephrine have been described in literature. To our knowledge, this is the first case of AMN that presented following epinephrine injection during childbirth.

PURPOSE To describe optical coherence tomography angiography findings at baseline and during the follow-up of choroidal neovascularization secondary to choroidal rupture (CR) in a patient with kidney transplant treated by a single intravitreal injection of ranibizumab. METHODS The clinical course, conventional multimodal imaging findings including ultra-widefield fundus color photography and fundus autofluorescence (Optos California, Marlborough, MA), spectral-domain optical coherence tomography (SD-OCT Spectralis; Heidelberg Engineering, Heidelberg, Germany), fluorescein angiography (FA; Heidelberg Engineering, Heidelberg, Germany), indocyanine green angiography ,and optical coherence tomography angiography (Plex-Elite, Carl Zeiss Meditec, Inc, Dublin, CA) findings at baseline and during the follow-up of a patient with choroidal neovascularization secondary to CR. RESULTS A 19-year-old young man with a history of blunt trauma presented with acute visual decline of the right eye. He had a systemic history of kidney transplant. His best-corrected visual acuity was 20/200 in the right eye and 20/20 in the left eye at baseline. Funduscopic examination and ultra-widefield fundus autofluorescence imaging revealed a double vertical macular lesion corresponding to a CR in the right eye. Spectral-domain optical coherence tomography, fluorescein angiography, and indocyanine green angiography revealed active Type 2 choroidal neovascularization secondary to the CR. Optical coherence tomography angiography showed a high-flow neovascular network consistent with conventional multimodal imaging. One month after intravitreal injection of ranibizumab, bestcorrected visual acuity was 20/100, optical coherence tomography angiography showed a contraction and remodeling of the neovascular flow, and exudative signs disappeared on multimodal imaging. No side effect was detected. CONCLUSION Optical coherence tomography angiography is able to detect choroidal neovascularization secondary to CR at baseline and during the follow-up after a single intravitreal injection of ranibizumab. Ranibizumab was effective in the treatment of this sight-threatening lesion in a patient with a history of kidney transplant.

Purpose To evaluate the vascular structure within combined hamartoma of retina and retinal pigment epithelium (CHRRPE) lesions using OCT angiography (OCTA). Design Multicenter, retrospective, observational analysis, Participants Twenty eyes of patients diagnosed with CHRRPE. Methods Retrospective analysis of color fundus photographs, OCT, and OCTA of 20 eyes with CHRRPE. Morphologic characteristics of CHRRPE and the OCT features were correlated with the density of the filigree vascular pattern and with the published histopathologic findings of CHRRPE lesions. Main Outcome Measure Density of flow signals, that is, the filigree vascular pattern seen on OCTA in the deep capillary plexus, graded as high (>20), intermediate (10–20), or low ( Results Of 20 lesions, 11 were peripapillary, 8 were macular, and 1 was equatorial in location. A high density of filigree vascular pattern was observed in most peripapillary CHRRPE lesions, which also showed full-thickness retinal involvement (8/10). A low density of filigree pattern was seen in macular lesions, which showed partial-thickness retinal involvement and preretinal fibrosis (5/6). Conclusions A filigree vascular pattern on OCTA is seen in CHRRPE lesions. High density of this pattern is noted in CHRRPE lesions with a peripapillary location, full-thickness retinal disorganization, and minimal preretinal fibrosis. These findings correlate well with published histopathologic findings of CHRRPE lesions both in terms of topographic and morphologic features. OCT angiography provides a promising method for further study of these lesions.

Post Kala-azar Dermal Leishmaniasis (PKDL), a sequel of apparently cured Visceral Leishmaniasis presents in South Asia with papulonodular (polymorphic) or hypomelanotic lesions (macular). Till date, the polymorphic variant was considered predominant, constituting 85–90%. However, following active-case surveillance, the proportion of macular PKDL has increased substantially to nearly 50%, necessitating an in-depth analysis of this variant. Accordingly, this study aimed to delineate the cellular infiltrate in macular vis-à-vis polymorphic PKDL. To study the overall histopathology, hematoxylin and eosin staining was performed on lesional sections and phenotyping by immunohistochemistry done in terms of dendritic cells (CD1a), macrophages (CD68), HLA-DR, T-cells (CD8, CD4), B-cells (CD20) and Ki67 along with assessment of the status of circulating homing markers CCL2, CCL7 and CXCL13. In polymorphic cases (n = 20), the cellular infiltration was substantial, whereas in macular lesions (n = 20) it was mild and patchy with relative sparing of the reticular dermis. Although parasite DNA was identified in both variants by ITS-1 PCR, the parasite load was significantly higher in the polymorphic variant and Leishman-Donovan bodies were notably minimally present in macular cases. Both variants demonstrated a decrease in CD1a+ dendritic cells, HLA-DR expression and CD4+ T-cells. In macular cases, the proportion of CD68+ macrophages, CD8+ T-cells and CD20+ B-cells was 4.6 fold, 17.0 fold and 1.6 fold lower than polymorphic cases. The absence of Ki67 positivity and increased levels of chemoattractants suggested dermal homing of these cellular subsets. Taken together, as compared to the polymorphic variant, patients with macular PKDL demonstrated a lower parasite load along with a lesser degree of cellular infiltration, suggesting differences in host-pathogen interactions, which in turn can impact on their disease transmitting potential and responses to chemotherapy., Graphical abstract Image 1, Highlights • Comparative analysis of immunopathology of polymorphic vs. macular PKDL. • Dense lymphohistiocytic infiltrate in polymorphic PKDL. • Mild and patchy cellular infiltration in macular PKDL with minimal Leishman Donovan bodies. • Decreased presence of CD1a, HLA-DR and CD4+ T-cells in both variants. • The presence of CD8+, CD68+and CD20+ cells in polymorphic>>>macular PKDL.

Automatic and accurate classification of retinal optical coherence tomography (OCT) images is essential to assist ophthalmologist in the diagnosis and grading of macular diseases. Clinically, ophthalmologists usually diagnose macular diseases according to the structures of macular lesions, whose morphologies, size, and numbers are important criteria. In this paper, we propose a novel lesion-aware convolutional neural network (LACNN) method for retinal OCT image classification, in which retinal lesions within OCT images are utilized to guide the CNN to achieve more accurate classification. The LACNN simulates the ophthalmologists' diagnosis that focuses on local lesion-related regions when analyzing the OCT image. Specifically, we first design a lesion detection network to generate a soft attention map from the whole OCT image. The attention map is then incorporated into a classification network to weight the contributions of local convolutional representations. Guided by the lesion attention map, the classification network can utilize the information from local lesion-related regions to further accelerate the network training process and improve the OCT classification. Our experimental results on two clinically acquired OCT datasets demonstrate the effectiveness and efficiency of the proposed LACNN method for retinal OCT image classification.

Introduction: India being a large country with diverse population groups, varying climates and having different customs offers the perfect backdrop for a wide variety of peculiar and distinctive skin disorders. Aim of our study was to determine the incidence and demographic distribution of various non neoplastic lesions of skin in patients attending the out patient department of dermatology of our institute. Materials and Methods: The present prospective study was conducted from June 2008 to May 2010 in the department of dermatology and pathology, in NKP Salve Institute of Medical Sciences and Research Centre, Nagpur. A total of 205 patients were studied. Final histopathological diagnosis was given in each case correlating with the clinical findings. The results obtained were tabulated and analysed. Results: Total number of cases included in the study were 205 out of which 22.43% of the patients were in the age group of 30 to 39 years. Macular lesion was the most common clinical presentation constituting 44.0% of all the cases. Non infectious erythematous, papular and squamous diseases were the most common histopathological diagnosis reported (31.21%) followed by bacterial diseases (20.98%) followed by non infectious vesicobullous vesicopustular diseases (17.097%). Conclusion: In the present study, wide spectrum of skin lesions, common and rare were observed. Leprosy is a still a disease of increasing frequency. Vascular, viral, protozoan diseases are the rare lesions of skin Keywords: Non neoplastic Skin Lesions, Vesicobullous Disorders, Demographic Distribution.

Introduction: Post kala-azar dermal leishmaniasis (PKDL) is a cutaneous complication of treated or subclinical visceral leishmaniasis. For confirmation, detection of Leishman-Donovan body (LDB) in slit skin smear (SSS) is needed. But it reveals a very low positivity. Since other confirmatory investigations are very costly, we studied the histopathological method as one of the accurate in the diagnosis of PKDL. Materials and Methods: We enrolled all suspected PKDL cases (n-24) of different forms within the specified period of one year. Clinically, 5 patients had hypopigmented macular lesions, 7 patients had papules, nodules or plaque lesions and 12 patients had combination lesions. All the patients were investigated with ELISA for rK39 antibody test and SSS for LDB. We had done skin biopsy from the lesions of all cases and stained with Haematoxillin and Eosin for histopathological examination. The tissues were also stained with Geimsa and Fite Faracco stain for better accuracy. Results: We collected 36 biopsy materials from 24 patients. Among 36 samples, 17 samples were of macular lesions and 19 samples were from papule, nodule or plaque. There were sparse lymphohistiocytic infiltrate with a few plasma cells in superficial perivascular locations in macular lesions. In papule, nodule or plaque lesions, the lymphohistiocytic and lymphoplasmacytic infiltrates were in perivascular and periappendegeal locations and extended upto mid dermis. The infiltrates were moderate to heavy according to type of elevated lesion. In some cases, the infiltrates were found in whole dermis and some formed nodular aggregate. Presence of plasma cells and hyalinization of dermal collagen were the important features in PKDL histopathology. Conclusion: The different histopathological patterns of PKDL cases have an immense value to diagnose the case correctly. Keywords: Post kala-azar dermal leishmaniasis, Leishman-Donovan body, Histopathology. Introduct

Significance This case report highlights the merits of using fine needle aspiration biopsy to obtain gene expression profiling of individual choroidal melanomas when more than one tumor arises in the same eye. It is also the first such case to document laser ablation therapy as the primary treatment. Purpose This report describes a case of two primary choroidal melanomas with different genetic profiles in the same eye. Case report An 80-year-old man presented to the office with a neoplasm of uncertain behavior in the left eye. The patient's visual acuity and IOP in the left eye, respectively, at the time of his first visit to the office were 20/25 and 8 mmHg. A dilated fundus examination revealed that there were two choroidal lesions in the left eye. The macular lesion was classified as type 1A, and the ciliochoroidal lesion was classified as type 1B. The patient underwent a vitrectomy of the left eye, followed by endolaser ablation of the tumors. The patient was also injected with bevacizumab. To date, the patient is free of known metastasis. Most recently, his visual acuity and IOP in the left eye were 20/30 and 14 mmHg, respectively. Conclusions Although rare, multiple melanomas in the same eye may have differing genetic profiles, which may alter prognosis and management, depending on the class of tumor detected.

PurposeTo assess age-related changes in the rhesus macaque eye and evaluate them to corresponding human age-related eye disease.MethodsData from eye exams and imaging tests including intraocular pressure (IOP), lens thickness, axial length, and retinal optical coherence tomography (OCT) images were evaluated from 142 individuals and statistically analyzed for age-related changes. Quantitative autofluorescence (qAF) was measured as was the presence of macular lesions as related to age.ResultsAges of the 142 rhesus macaques ranged from 0.7 to 29 years (mean=16.4 years, stdev=7.5 years). Anterior segment measurements such as IOP, lens thickness, and axial length were acquired. Advanced retinal imaging in the form of optical coherence tomography and qAF were obtained. Quantitative assessments were made and variations by age groups were analyzed to compare with established age-related changes in human eyes. Quantitative analysis of data revealed age-related increase in intraocular pressure (0.165mm Hg per increase in year of age), ocular biometry (lens thickness 7.2μm per increase in year of age; and axial length 52.8μm per increase in year of age), and presence of macular lesions. Age-related changes in thicknesses of retinal layers on OCT were observed and quantified, showing decreased thickness of the retinal ganglion cell layer and inner nuclear layer, and increased thickness of photoreceptor outer segment and choroidal layers. Age was correlated with increased qAF by 1.021 autofluorescence units per increase in year of age.ConclusionsThe rhesus macaque has age-related ocular changes similar to humans. IOP increases with age while retinal ganglion cell layer thickness decreases. Macular lesions develop in some aged animals. Our findings support the concept that rhesus macaques may be useful for the study of important age-related diseases such as glaucoma, macular diseases, and cone disorders, and for development of therapies for these diseases.

Purpose North Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the central retina. Here, we report clinical and genetic findings in three families segregating NCMD and use epigenomic datasets from human tissues to gain insights into the effect of NCMD-implicated variants. Methods Clinical assessment and genetic testing were performed. Publicly available transcriptomic and epigenomic datasets were analyzed and the activity-by-contact method for scoring enhancer elements and linking them to target genes was used. Results A previously described, heterozygous, noncoding variant upstream of the PRDM13 gene was detected in all six affected study participants (chr6:100,040,987G>C [GRCh37/hg19]). Interfamilial and intrafamilial variability were observed; the visual acuity ranged from 0.0 to 1.6 LogMAR and fundoscopic findings ranged from visually insignificant, confluent, drusen-like macular deposits to coloboma-like macular lesions. Variable degrees of peripheral retinal spots (which were easily detected on widefield retinal imaging) were observed in all study subjects. Notably, a 6-year-old patient developed choroidal neovascularization and required treatment with intravitreal bevacizumab injections. Computational analysis of the five single nucleotide variants that have been implicated in NCMD revealed that these noncoding changes lie within two putative enhancer elements; these elements are predicted to interact with PRDM13 in the developing human retina. PRDM13 was found to be expressed in the fetal retina, with greatest expression in the amacrine precursor cell population. Conclusions We provide further evidence supporting the role of PRDM13 dysregulation in the pathogenesis of NCMD and highlight the usefulness of widefield retinal imaging in individuals suspected to have this condition.

Multifocal choroiditis (MFC) can be associated with ocular tuberculosis (TB). Inflammatory peripapillary choroidal neovascular membrane (PPCNVM) is uncommon in TB MFC. Subretinal pigment epithelial inflammatory lesions are suggestive of acute inflammation or reactivation of inflammation in the setting of MFC. We present a case of MFC, of tubercular aetiology, during course of treatment of PPCNVM developed a subfoveal retinal pigment epithelial lesion. Clinical examination suggested a recurrence of PPCNVM, with the new macular lesions posing a dilemma of new onset inflammatory choroidal neovascular membrane (CNVM) at the macula versus reactivation of choroiditis at the posterior pole. Multimodal imaging helped differentiate the lesion from CNVM and give the appropriate antitubercular treatment to prevent future recurrences.

Acute Macular Neuro-retinopathy (AMN) is a rare clinical entity. We present a case of 26 years old male who presented with one-week old history of sudden onset of decrease vision in left eye associated with paracentral scotomas. Dilated fundus examination of the left eye showed multiple reddish brownish petalloid para-foveal lesions with apex pointing toward the fovea. OCT showed hyper-reflective bands in the Outer Nuclear Layer and Outer Plexiform Layer along with disruption of ellipsoid zones. Amsler grid drawn by the patient and the visual field showed scotoma corresponding to the macular lesion. The cause turned out to be undiagnosed essential hypertension. Purpose of presenting this case is that High Definition Optical coherence tomography (SD-OCT) makes diagnosis of some rare conditions easy and fast for an ophthalmologist, that might be misdiagnosed or missed with conventional OCT and FFA imaging test. Key Words: Acute Macular Neuro-retinopathy, Spectral Domain Optical Coherence Tomography, Paracentral Scotoma.

Purpose To determine the benefits of performing preoperative spectral domain optical coherence tomography (SD-OCT) and to identify occult macular pathologies in patients scheduled for routine cataract surgery. Methods In this cross-sectional study, macular SD-OCT scans were performed on all patients with clinically undetected macular abnormalities who were scheduled for cataract surgery. Patients with clinically evident macular abnormalities were excluded from the study. A retinal specialist reviewed all the scans. The severity of the cataract was determined using the Oxford Clinical Cataract Classification and Grading System. Results Of the 598 evaluated cases, 33 patients (5.52%) had an occult macular abnormality. The most common pathology found in these patients was idiopathic epiretinal membrane, which was detected in 17 eyes (51.52%), followed by vitreomacular traction in nine eyes (27.27%), and dry age-related macular degeneration in four eyes (12.12%). Full-thickness macular holes and a lamellar macular hole were found in two patients (6.06%) and one patient (3.03%), respectively. The frequency of cortical cataracts was significantly lower in patients without macular lesions (P = 0.012) than in those with macular lesions. Multivariate logistic regression analysis revealed that age >70 years (P = 0.025 and odds ratio [OR] =11.12), smoking history (P = 0.043 and OR = 3.43), and hypertension were independently associated with occult macular lesions. The surgical plan was changed for five patients (0.83%). Conclusions Macular SD-OCT can be used to detect occult macular lesions and provide useful information about a macula before cataract surgery. Although preoperative OCT found macular abnormalities in about 5% of patients with presumed normal fundus examination, it can result in changing the surgical plan in 0.83% of all patients.

PurposeNorth Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the central retina. Here, we report clinical and genetic findings in three families segregating NCMD and use epigenomic datasets from human tissues to gain insights into the effect of NCMD-implicated variants.MethodsClinical assessment and genetic testing were performed. Publicly-available transcriptomic and epigenomic datasets were analyzed and the ‘Activity-by-Contact’ (ABC) method for scoring enhancer elements and linking them to target genes was used.ResultsA previously-described, heterozygous, non-coding variant upstream of the PRDM13 gene was detected in all six affected study participants (chr6:100,040,987G>C [GRCh37/hg19]). Inter- and intra-familial variability were observed; the visual acuity ranged from 0.0 to 1.6 LogMAR and fundoscopic findings ranged from visually insignificant, confluent, drusen-like macular deposits to coloboma-like macular lesions. Variable degrees of peripheral retinal spots (which were easily detected on widefield retinal imaging) were observed in all study subjects. Notably, a 6-year-old patient developed choroidal neovascularization and required treatment with intravitreal bevacizumab injections. Computational analysis of the five single nucleotide variants that have been implicated in NCMD revealed that these non-coding changes lie within two putative enhancer elements; these elements are predicted to interact with PRDM13 in the developing human retina. PRDM13 was found to be expressed in the fetal retina, with highest expression in the amacrine precursor cell population.ConclusionsWe provide further evidence supporting the role of PRDM13 dysregulation in the pathogenesis of NCMD and highlight the utility of widefield retinal imaging in individuals suspected to have this condition.