Retinal Findings Research Articles

Preterm infant retinal OCT markers of perinatal health and retinopathy of prematurity.

The increasing survival of preterm infants has led to the importance of improving long-term outcomes associated with preterm birth. Antenatal and perinatal insults not only impact mortality, but also long-term disability. While in the intensive care nursery, preterm infants are also exposed to various stressors that lead to long-term cognitive deficits. It is therefore critical to identify early, low-stress, non-invasive biomarkers for preterm infant health. Optical coherence tomography (OCT) is a powerful imaging modality that has recently been adapted to the infant population and provides noninvasive, high-resolution, cross-sectional imaging of the infant eye at the bedside with low stress relative to conventional examination. In this review we delve into discussing the associations between preterm systemic health factors and OCT-based retinal findings and their potential contribution to the development of non-invasive biomarkers for infant health and for retinopathy of prematurity (ROP).

FROM DRUSEN TO TYPE 3 MACULAR NEOVASCULARIZATION.

To investigate the imaging features preceding the occurrence of type 3 (T3) macular neovascularization (MNV) using tracked spectral-domain optical coherence tomography. From a cohort of eyes with T3 MNV and ≥ 12 months of previously tracked spectral-domain optical coherence tomography, T3 lesions that developed above soft drusen were selected for optical coherence tomography analysis. Retinal imaging findings at the location where type T3 MNV occurred were analyzed at each follow-up until the onset of T3 MNV. The following optical coherence tomography parameters were assessed: drusen size (height and width), outer nuclear layer/Henle fiber layer thickness at the drusen apex, and the presence of intraretinal hyperreflective foci, retinal pigment epithelium disruption, incomplete retinal pigment epithelium and outer retina atrophy, and complete retinal pigment epithelium and outer retina atrophy. From a cohort of 31 eyes with T3 MNV, T3 lesions developed above soft drusen in 20 eyes (64.5%). Drusen showed progressive growth ( P < 0.001) associated with outer nuclear layer/Henle fiber ( P < 0.001) thinning before T3 MNV. The following optical coherence tomography features were identified preceding the occurrence of T3 MNV, typically at the apex of the drusenoid lesion: disruption of the external limiting membrane/ellipsoid zone and/or the retinal pigment epithelium, hyperreflective foci, and incomplete retinal pigment epithelium and outer retina atrophy/complete retinal pigment epithelium and outer retina atrophy. The results demonstrate specific anatomic alterations preceding the occurrence of T3 MNV that most commonly originates above soft drusen. Drusen growth, reduced outer nuclear layer/Henle fiber thickness, and retinal pigment epithelium atrophy at the drusen apex precede the development of T3 MNV. Identifying these optical coherence tomography features should warrant close monitoring for identification of T3 MNV, which can benefit from prompt intravitreal anti-vascular endothelial growth factor therapy.

Neovascular Glaucoma as the Initial Presentation of Ocular Tuberculosis

Purpose: To report a case of ocular tuberculosis that first manifested as neovascular glaucoma.Case summary: A 76-year-old male visited our hospital complaining of decreased visual acuity in the left eye. He had undergone tuberculosis treatment 1 year prior, and had been cured. At the time of his visit, decreased visual acuity, increased intraocular pressure, and iris neovascularization were observed in the left eye. He was diagnosed with neovascular glaucoma and was started on treatment to lower the intraocular pressure. At the time of the visit, we also noticed vitreous opacity in both eyes. The patient did not attend his scheduled follow-up visit, but returned 2 months later complaining of decreased visual acuity in both eyes. The vitreous opacity in the retinae of both eyes had become aggravated. Diagnostic vitrectomy was performed on both eyes, and multiple yellowish-white circular lesions were observed throughout the retinae. Systemic abnormalities were suspected, and thus additional tests were performed. Bronchoalveolar lavage fluid analysis revealed recurrence of pulmonary tuberculosis, and tuberculosis treatment was recommenced. Temporary increases in ocular inflammation and deterioration were observed but improved after the addition of systemic steroids. The patient has been under observation without recurrence for about 1 year.Conclusions: Ocular tuberculosis can be expressed in the form of neovascular glaucoma, so ocular tuberculosis should be suspected if there is a history of tuberculosis and abnormal retinal findings.

Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort

To characterize the largest cohort of individuals with retinol dehydrogenase 12 (RDH12)-retinal dystrophy to date, and the first one from South America. Retrospective multicenter international study. Seventy-eight patients (66 families) with an inherited retinal dystrophy and biallelic variants in RDH12. Review of clinical notes, ophthalmic images, and molecular diagnosis. Visual function, retinal imaging, and characteristics were evaluated and correlated. Thirty-seven individuals self-identified as Latino (51%) and 34 as White (47%). Sixty-nine individuals (88%) had Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy. Macular and midperipheral atrophy were seen in all patients from 3 years of age. A novel retinal finding was a hyperautofluorescent ring in 2 young children with LCA. Thirty-nine patients (50%) had subsequent visits, with mean follow-up of 6.8±7.3 (range, 0-29) years.Eight variants (21%) were previously unreported, and the most frequent variant was c.295C>A, p.Leu99Ile, present in 52 alleles of 32 probands. Individuals with LCA homozygous for p.Leu99Ile (31%) had a later age of onset, a slower rate of best-corrected visual acuity decrease, the largest percentage of patients with mild visual impairment, and were predicted to reach legal blindness at an older age than the rest of the cohort. By describing the largest molecularly confirmed cohort to date, improved understanding of disease progression was possible. Our detailed characterization aims to support research and the development of novel therapies that may have the potential to reduce or prevent vision loss in individuals with RDH12-associated retinal dystrophy. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures.

Case report: Ocular signs of superficial siderosis; a rare neurodegenerative disorder

AimThis article seeks to describe superficial siderosis as a rare, acquired neurodegenerative disorder and provide a case report of the neuro-ophthalmological clinical signs of a patient presenting with previously undiagnosed superficial siderosis. ReportA 48-year-old female with a previous history of motor vehicle trauma and recurrent migranous headaches presented with seizure. Additionally, she described blurred vision and serial fundus examination revealed retinal haemorrhage followed by papilledema. Subsequent radiological investigation revealed superficial siderosis. ConclusionsTo our knowledge, this is the first report of retinal findings in a case of superficial siderosis. The case report seeks to provide clinicians with a wider breadth of information on the clinical presentation and response to intracranial pressure lowering therapy in a rare condition.

Operative Therapie der rissbedingten Netzhautablösung – ein Blick in Klinik und Geschichte

Purpose. The aim of this clinical article is to describe the surgical treatment of tear-related retinal detachment in the context of the individual retinal findings, the lens status and in consideration of the surgical and postoperative risks, taking into account the specific situation of each patient. Material and Methods. Rhegmatogenous retinal detachment is the result of a retinal tear caused by traction of the vitre- ous on the retina. Liquefied vitreous enters the subretinal space and separates the sensory retina from the pigment epithelium-Bruch’s - membrane complex. As a result, the retina loses contact with the choroid supplying the outer retinal cell layers. The damage caused by the reduced supply, especially to the foveal retina, determines the urgency of surgical treatment. Two very different surgical procedures are available for thera- py: buckling surgery and pars plana vitrectomy. Both surgical methods have different indications and risks and are ex- plained on the basis of our own clinical experience, together with other publications on the same subject, also in their historical context. Results. The treatment goal of rhegmatogenous retinal de- tachment is to bring the retina closer to the retinal pigment epithelium, which ‘pumps out’ the fluid from the subretinal space, and reestablishing the retinas contact to the choroi- dal supply. The entry of fluid into the subretinal space must be permanently prevented by induced scarring. Whether a buckling surgery or a pars plana vitrectomy is indicated depends on the respective retinal findings. The greatest risk after any surgery for a tear-induced retinal detachment is the development of a proliferative vitreoretinopathy and a resulting renewed retinal detachment. Conclusion. Early detection of retinal detachment by the symptoms flashes, floaters, shadows and early binocular oph- thalmoscopy is important to prevent progression of retinal detachment into the fovea and to organize vitreoretinal surgery as soon as possible. The visual prognosis of retinal de- tachments with foveal or macular involvement has improved significantly in the last decades. Keywords Rhegmatogenous retinal detachment, retina surgery, pars plana vitrectomy, denting surgery, retinal break

Optical Coherence Tomography in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-analysis

BackgroundInner retinal atrophy has been demonstrated in schizophrenia spectrum disorder (SSD) using optical coherence tomography (OCT). This systematic review and meta-analysis investigated the role of contemporary Fourier domain OCT devices in SSD. MethodsMEDLINE, PubMed, Scopus, Embase, PsycInfo, PYSNDEX, World Health Organization, and Cochrane databases were searched from inception until May 2022. All peer-reviewed adult SSD case-control studies using Fourier domain OCT were included. Ocular pathologies known to affect retinal OCT scans were excluded. Search, data appraisal, and summary data extraction were independently performed by 2 authors. ResultsThe review criteria was met by k = 36 studies, with k = 24 studies (1074 cases, 854 controls) suitable for meta-analysis. The SSD group exhibited a thinner global peripapillary retinal nerve fiber layer (−3.26 μm, 95% CI, −5.07 to −1.45, I2 = 64%, k = 21), thinner average macular layer (−7.88 μm, 95% CI, −12.73 to −3.04, I2 = 65%, k = 11), and thinner macular ganglion cell-inner plexiform sublayer (−2.44 μm, 95% CI, −4.13 to −0.76, I2 = 30%, k = 8) compared with the control group. Retinal nerve fiber layer findings remained significant after exclusion of metabolic disease, low quality, outlier, and influential studies. Studies involving eye examinations to exclude eye disease were associated with greater atrophy in SSD. Except for cardiometabolic disease, most studies did not report clinically significant covariate data known to influence retinal thickness. ConclusionsIndividuals with SSD generally exhibited retinal atrophy, possibly paralleling reduced brain volumes documented in clinical imaging. Prospective longitudinal studies that collect clinical data, including various illness phases, and control for confounders will be necessary to evaluate retinal atrophy as a biomarker in SSD.

Terminology for Retinal Findings in Sickle Cell Disease Research: A Scoping Review

To review the current sickle cell disease (SCD) literature to assess how "retinopathy" has been defined and to identify ocular outcomes that have been measured and described. A systematic scoping review of SCD literature was completed regarding ocular manifestations of SCD and vision outcomes across all medical specialties. Participants with SCD and control patients were included in our data extraction. We reviewed English-language literature from 2000 to 2021 for eligible studies by searching PubMed, Google Scholar, Embase, and the Cochrane library using terms to encompass SCD and ocular findings. Data collection included study information, patient characteristics, vision-related findings (inclusion criteria and/or study outcomes), and retinopathy characteristics (definition, when, how and by whom diagnosed). We identified 4006 unique citations and 111 were included in the analysis. Ophthalmologists were senior authors of about half (59/111; 53.2%) of the articles; most articles were published between 2016 and 2021 (71/111; 70.0%). The studies had been conducted primarily in North America (54/111; 48.6%) or Europe (23/111; 20.7%); designs were cross-sectional (51/111; 45.9%), prospective cohort (28/111; 25.2%), retrospective cohort (27/111; 24.3%), and case-control (4/111; 3.6%). Among studies reporting any retinopathy, it was commonly defined as a combination of nonproliferative sickle cell retinopathy and proliferative sickle cell retinopathy (PSR;52/87; 59.8%), infrequently as PSR only (6/87; 6.9%), or not defined at all (23/87; 26.4%). The Goldberg classification was used to grade retinopathy in almost half of the studies (41/87; 47.1%). Investigators reporting diagnostic methods used clinical fundus examination (56/111; 50.4%), OCT (24/111; 21.6%), fluorescein angiography (20/111; 18.0%), ultrawidefield fundus photographs (15/111; 13.5%), and OCT angiography (10/111; 9.0%), or did not report methods (28/111; 25.2%). There are inconsistencies in documentation of methods and outcomes in studies of SCD ophthalmic findings. Particularly concerning is the lack of documentation of ophthalmic examination methods, qualifications of examiners, and clarity and specificity of sickle cell retinopathy definitions. With the increase in SCD treatment research and novel systemic therapies available, it is important to adopt clear and consistent descriptions and rigorous data collection and reporting of ophthalmic outcomes in SCD studies. The authors have no proprietary or commercial interest in any materials discussed in this article.

Early retinal neurovascular findings in post-transplant diabetes mellitus patients without clinical signs of diabetic retinopathy

BackgroundPost-transplant diabetes mellitus (PTDM) is a specific subtype of diabetes with an uncertain impact on mortality and morbidity in post-transplant patients. Diabetic retinopathy is the most common microvascular complication of diabetes mellitus, but the long-term clinical progression in PTDM is unknown. New technologies are being used to assess pre-clinical signs of retinal changes, such as swept-source optical coherence tomography (OCT) and OCT-angiography. The aim of this study was to detect pre-clinical structural and vascular changes in the retina using swept-source-OCT and OCT-angiography in patients with PTDM.MethodsIn this retrospective cohort study, post-kidney transplant patients were divided into PTDM and non-PTDM (control) groups. Both eyes of eligible PTDM patients and controls were included in this study. Inner retinal layer thickness was measured with swept-source-OCT. Retinal capillary density and the foveal avascular zone were measured with OCT-angiography.ResultsIn the PTDM group, reduced thickness was found in the inferior ganglion cell layer plus inner plexiform layer (95% CI -8.76 to -0.68; p = 0.022) and the temporal inferior segment (95% CI -10.23 to -0.76; p = 0.024) of the inner retina, as well as in the retinal nerve fiber layer in the temporal (95% CI -34.78 to -9.28 p = 0.001) and temporal inferior segments (95% CI -33.26 to -5.03 p = 0.008). No significant differences were found in the vascular capillary plexus between groups at all depths, segments, or foveal avascular zone (p = 0.088).ConclusionsAccording to OCT-angiography, PTDM patients had reduced inner neurosensory retinal layers but no significant change in vascular density, which suggests that early neuroretinal degeneration might occur prior to vascular changes secondary to PTDM. Prospective studies could help elucidate the clinical course of retinal neuropathy and microvascular pathology in PTDM and provide a better understanding of PTDM complications.

Ocular features in Williams-Beuren syndrome: a review of the literature.

The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail. Few case reports, case series and retrospective studies reported the ophthalmic features in Williams-Beuren syndrome, focusing on specific aspects of the ocular involvement. Recently, novel retinal findings have been described in association with the disease. Numerous ocular features have been described in Williams-Beuren syndrome. Some of them, such as the stellate pattern of the iris or the retinal arteriolar tortuosity may be helpful for the diagnosis but have no significant clinical implications; others, such as strabismus and refractive errors require early treatment to reduce the risk of irreversible visual impairment. Finally, some features, such as a broad foveal pit and thinner retina still have unknown significance and require further longitudinal and multimodal studies.

Multimodal Retinal Imaging Findings in Hardikar Syndrome.

To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar Syndrome (HS) with presentation of optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiographic (FA), and indocyanine green angiographic (ICG) findings. Clinical course was detailed and followed over time with examinations and multimodal imaging. A 17-year-old patient with HS was referred for possible retinitis pigmentosa. Dilated fundoscopic examination revealed large, multifocal cauliform patches of chorioretinal retinal pigment epithelium (RPE) changes with RPE drop-out involving the macula and periphery in both eyes. Additionally, an inactive choroidal neovascular membrane (CNVM) was present in the left eye. Multimodal imaging with OCT, FAF, FA and ICG correlated with the clinical findings of focal patches of chorioretinal degeneration in both eyes. Additionally, an anomalous finding of the superior retinal arterial vessels filling in tandem with the choroidal was present in the left eye. The patient's clinical findings were consistent with HS, and genetic testing with whole exome sequencing revealed a pathogenic mutation in the MED12 gene, confirming diagnosis. HS is associated with RPE degeneration, creating focal patches of pigmentary chorioretinal atrophic lesions. Vision loss can occur due to the development of CNVMs. We recommend close evaluation and follow-up for HS patients with multimodal retinal imaging.

Baseline demographic, clinical and multimodal imaging features of young patients with type 2 macular telangiectasia

PurposeMacular telangiectasia (MacTel) type 2 is observed in patients in their 5th–8th decades of life. The clinical and imaging findings in younger patients is unknown in larger cohorts. The study purpose is to report prevalence, baseline clinical and spectral domain optical coherence tomography (SDOCT) findings in young MacTel patients below 40 years.MethodsThis hospital-based, multicentre, retrospective, cross-sectional study included patients between 2011 and 2023. Retinal photographs from multiple imaging techniques were evaluated to diagnose and stage type 2 MacTel and describe their SDOCT findings. Imaging characteristics were correlated with clinical stages and visual acuity.ResultsAmong all MacTel patients seen in hospital, prevalence of young MacTel cases less than age 40 was 1.77% (32/1806; 62 eyes). Youngest participant was 34 years, while mean age was 38.44 ± 1.795 years. Sixteen patients (50%) were diabetics. Perifoveal greying (n = 56, 90%) and perifoveal hyperreflective middle retinal layers (n = 47, 76%) were the most prevalent clinical and SDOCT imaging finding respectively. Less than 10% (n = 6) eyes had proliferative disease. Presence of retinal pigment clumps (RPC) (7% vs. 67%; p = 0.002) coincided with proliferative MacTel. Poor vision was associated with presence of outer retinal layer SDOCT findings like outward bending of inner retinal layers (p = 0.047), RPC (p = 0.007), subfoveal neurosensory detachment (p = 0.048) and subretinal neovascular membrane (p = 0.001).ConclusionType 2 MacTel before age 40 is rare, common in women and diabetics, and affects vision in advanced stage. Disease symmetry, comparison with older cases, and longitudinal SDOCT changes in such patients require further study.

Postmortem Ultrastructural Analysis of the Retina from COVID-19 Deceased Patients

ABSTRACT Purpose COVID-19 (coronavirus disease 2019) is an infectious disease caused by SARS-CoV-2, first reported in 2019 in Wuhan, China. Among the common complications is a pro-inflammatory and hypercoagulative response that compromises the vasculature among various organs. Methods In this report, we present the postmortem retinal findings of five patients observed by means of optical microscopy and transmission and scanning electron microscopy techniques. Results Clinical manifestations such as retinal hemorrhages and exacerbated inflammatory infiltrate, altered ultra structure with swollen mitochondria and pyknotic cells in both layers of the retina were observed in all analyzed eyes. Conclusion Our data point to the fragility of this tissue in cases of severe COVID-19.

Retinal electrophysiology in central nervous system disorders. A review of human and mouse studies.

The retina and brain share similar neurochemistry and neurodevelopmental origins, with the retina, often viewed as a "window to the brain." With retinal measures of structure and function becoming easier to obtain in clinical populations there is a growing interest in using retinal findings as potential biomarkers for disorders affecting the central nervous system. Functional retinal biomarkers, such as the electroretinogram, show promise in neurological disorders, despite having limitations imposed by the existence of overlapping genetic markers, clinical traits or the effects of medications that may reduce their specificity in some conditions. This narrative review summarizes the principal functional retinal findings in central nervous system disorders and related mouse models and provides a background to the main excitatory and inhibitory retinal neurotransmitters that have been implicated to explain the visual electrophysiological findings. These changes in retinal neurochemistry may contribute to our understanding of these conditions based on the findings of retinal electrophysiological tests such as the flash, pattern, multifocal electroretinograms, and electro-oculogram. It is likely that future applications of signal analysis and machine learning algorithms will offer new insights into the pathophysiology, classification, and progression of these clinical disorders including autism, attention deficit/hyperactivity disorder, bipolar disorder, schizophrenia, depression, Parkinson's, and Alzheimer's disease. New clinical applications of visual electrophysiology to this field may lead to earlier, more accurate diagnoses and better targeted therapeutic interventions benefiting individual patients and clinicians managing these individuals and their families.

Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review

Individuals with Zellweger spectrum disorder (ZSD) manifest a spectrum of clinical phenotypes but almost all have retinal degeneration leading to blindness. The onset, extent, and progression of retinal findings have not been well described. It is crucial to understand the natural history of vision loss in ZSD to define reliable endpoints for future interventional trials. Herein, we describe ophthalmic findings in the largest number of ZSD patients to date. Retrospective review of longitudinal data from medical charts and review of cross-sectional data from the literature. Sixty-six patients with ZSD in the retrospective cohort and 119 patients reported in the literature, divided into 4 disease phenotypes based on genotype or clinical severity. We reviewed ophthalmology records collected from the retrospective cohort (Clinicaltrials.gov NCT01668186) and performed a scoping review of the literature for ophthalmic findings in patients with ZSD. We extracted available ophthalmic data and analyzed by age and disease severity. Visual acuity (VA), posterior and anterior segment descriptions, nystagmus, refraction, electroretinography findings, visual evoked potentials, and OCT results and images. Visual acuity was worse at younger ages in those with severe disease compared with older patients with intermediate to mild disease for all 78 participants analyzed, with a median VA of 0.93 logarithm of the minimum angle of resolution (Snellen 20/320). Longitudinal VA data revealed slow loss over time and legal blindness onset at an average age of 7.8 years. Funduscopy showed retinal pigmentation, macular abnormalities, small or pale optic discs, and attenuated vessels with higher prevalence in milder severity groups and did not change with age. Electroretinography waveforms were diminished in 91% of patients, 46% of which were extinguished and did not change with age. OCT in milder patients revealed schitic changes in 18 of 23 individuals (age range 1.8 to 30 years), with evolution or stable macular edema. In ZSD, VA slowly deteriorates and is associated with disease severity, serial electroretinography is not useful for documenting vision loss progression, and intraretinal schitic changes may be common. Multiple systematic measures are required to assess retinal dystrophy accurately in ZSD, including functional vision measures. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Spotlight on Lattice Degeneration Imaging Techniques.

Lattice degeneration (LD), routinely diagnosed with indirect ophthalmoscopy, is one of the most common and clinically significant peripheral retinal findings. In this review, we have summarized the data on currently available imaging techniques which help to improve diagnosis and our understanding of LD pathogenesis. Ultra-wide field imaging provides reliable color fundus capturing for the primary diagnosis of LD and may also be used as a screening tool. Wide-field imaging can be used for targeted documentation of LD lesions using true colors and with minimal optical distortions. Information on the status of the vitreoretinal interface, including detection of retinal holes, detachments, and vitreous tractions, can be obtained with peripheral structural optical coherence tomography (OCT) or scanning laser ophthalmoscopy in retro-mode. These techniques clarify the associated risks of rhegmatogenous retinal detachment. Fundus autofluorescence can provide details on atrophic changes. However, the risk of retinal detachment by means of this technique requires further investigation. OCT angiography may be successfully performed for some lesions. Taken together, OCT and OCT angiography demonstrate thinning of the choroid, alteration of local choroidal microcirculation, and, in severe lesions, involvement of the sclera. OCT angiography confirms loss of retinal microcirculation within LD lesion, which was previously shown with fluorescein angiography. In conclusion, despite relatively simple primary diagnosis, imaging of LD lesions remains challenging due to their peripheral localization. However, several new strategies, including ultra-wide field imaging, peripheral OCT, and scanning laser ophthalmoscopy, make LD imaging possible on a routine basis, improving diagnosis and understanding of LD pathogenesis.

New retinal findings in NLRP3-associated autoinflammatory disease

PurposeTo determine whether the rare NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) is associated with retinal changes and to assess the ocular involvement.MethodsA retrospective cohort study of 20 patients(40 eyes) diagnosed with rare NLRP3-AID at Peking Union Medical College Hospital, from April 2015 to August 2022. Patients underwent a comprehensive ophthalmological examination, including visual acuity, intraocular pressure examination, slit-lamp examination, fundus photography, optical coherence tomography(OCT), and fluorescence angiography (FA). Some patients also underwent optical coherence tomography angiography (OCTA).ResultsThis study analyzed 40 eyes of 20 patients (11 [55.0%] male; median age, 25.0 years [range, 12–52 years]) and 13 patients (26 eyes, 65%) demonstrated ocular involvement. The most common ophthalmologic manifestation was conjunctivitis (22 eyes, 84.6%), followed by papilledema (14 eyes, 53.8%), retinopathy (10 eyes, 38.5%), optic atrophy (6 eyes, 23.1%), uveitis (4 eyes, 15.4%), reduced pupil light reflex (3 eyes, 11.5%) and cataracts (2 eyes, 7.7%). Ocular involvement was bilateral in 11 patients (55.0%). Five kinds of retinal lesions were seen in 5 patients (10 eyes, 25%) with NLRP3-AID, including peripheral retinal vascular leakage, microaneurysms, macular ischemia, macular epiretinal membrane formation and drusen.ConclusionsPeripheral retinal vascular leakage, macular ischemia, microaneurysms and drusen are newly identified retinal findings in patients with NLRP3-AID, which suggests the importance of detailed retinal examination in these patients.

Iris and Retinal Findings in Multisystemic Smooth Muscle Dysfunction Syndrome

Iris and Retinal Findings in Multisystemic Smooth Muscle Dysfunction Syndrome

Electrophysiological findings in extensive macular atrophy with pseudodrusen.

To present electroretinogram findings in extensive macular atrophy with pseudodrusen (EMAP) and describe associated systemic factors. Retrospective case series. Data on medical history, visual symptoms, multimodal imaging findings, and visual field were collected from the medical records of patients with extensive macular atrophy with pseudodrusen who attended a visual electrophysiology laboratory. Electrophysiological tests, including full-field electroretinogram, multifocal electroretinogram and photopic negative response, were performed. Eighteen patients (10 [56%] females, age 49-66years) were included. Of these, 17 (94%) had a history of rheumatic fever in childhood and/or adolescence, 7 (39%) had cardiovascular disease, 4 (22%) had autoimmune disease, and 10 (56%) had inflammatory conditions. The primary visual complaints were nyctalopia (95%), followed by visual field loss (67%) and dyschromatopsia (67%). The key retinal findings included retinal pigmented epithelium atrophy in the macular region and subretinal drusenoid deposits. Regarding electrophysiological results, 100% of patients had abnormalities on multifocal electroretinogram, 94% displayed alterations in photopic negative response, and 78% showed changes in the full-field electroretinogram. In this cohort, electrophysiologic evaluation demonstrated diffuse retinal dysfunction affecting all layers of the retina in patients with EMAP. The disease is associated with immune-mediated systemic conditions, chiefly rheumatic fever.

Sclerochoroidal Calcification Leads to Diagnosis of Primary Parathyroid Cancer

Introduction There are many innocuous retinal findings which arise from normal age-related change. It is important to distinguish sclerochoroidal calcifications (SCC) as either benign or malignant. Sclerochoroidal calcifications are pale, elevated fundus lesions found in the sclera, choroid, and/ or retina that originate from excess calcium deposition onto normal tissue. This uncommon finding is often benign, and the patient suffers no visual or systemic complications. However, in rare circumstances, these retinal lesions can originate from potentially harmful systemic conditions. A careful ophthalmic and systemic work up is needed to determine the lesion’s etiology and if intervention is required. This case demonstrates a causal relationship between a SCC fundus lesion and primary parathyroid cancer. CE Notification This article is available as a COPE accredited CE course. You may take this course for 1-hour credit. Read the article and take the qualifying test to earn your credit. Please check COPE course expiry date prior to enrollment. The COPE course test must be taken before the course expiry date.