Acute macular neuroretinopathy following Valsalva manoeuvre: an insight into the pathophysiology.

Acute macular neuroretinopathy (AMN) affects the outer retina and is most likely induced by non-inflammatory ischaemia of the retinal deep capillary plexus and choriocapillaris. A man in his early 20s developed Valsalva retinopathy following weightlifting at the gym and presented with blurring of vision in the left eye 1 month after the initial retinal haemorrhages had resolved. A diffuse, purplish, donut-shaped, perifoveal lesion was seen on funduscopy and was well defined by an optical coherence tomography angiography (OCTA) en face image in the left eye. Outer retinal changes on optical coherence tomography (OCT) and a dense co-localised scotoma on a visual field (VF) examination confirmed the diagnosis of AMN, and the patient was started on a tapering dose of oral steroids. Improvement was seen in OCT, OCTA and VF during the 6-month follow-up visit. The use of OCTA en face imaging enabled the accurate identification of the lesion in the affected layers of the retina.

Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia.

BACKGROUND: Among sex chromosome aneuploidies, 48, XXYY syndrome is a rare variant. This condition is marked by the existence of an additional X and Y chromosome in males, leading to a diverse range of physical, neurocognitive, behavioral, and psychological manifestations. Typical characteristics include a tall stature and infertility. Other phenotypes include congenital heart defects, skeletal anomalies, tremors, obesity, as well as the potential for type 2 diabetes and/or peripheral vascular disease. CASE PRESENTATION: A 6-year-old boy, who had been experiencing progressive vision deterioration in both eyes for the past two years, presented with a history of poor vision, delayed motor skills. The patient was diagnosed with micropenis in the pediatric outpatient clinic. Sparse hair, an unusually tall stature and craniofacial dysmorphology characterized by ocular hypertelorism, depressed nasal bridge, and epicanthic folds were observed. Comprehensive ophthalmic examination revealed high myopia and grade 3 macular hypoplasia. Diagnostic investigations including karyotype analysis and whole-exome sequencing identified an anomalous male karyotype comprising two X and two Y chromosomes, confirming a diagnosis of 48, XXYY syndrome. CONCLUSIONS: This study underscores the rare association of high myopia and grade 3 macular dysplasia with 48, XXYY syndrome. To our knowledge, this case marks the first recorded instance of macular dysplasia in a patient with 48, XXYY syndrome. This novel finding enhances our understanding of this syndrome's phenotypic variability.

Choroidal and central macular thickness before and after treatment in post fever retinitis.

PURPOSE: To study the choroidal thickness (CT) and central macular thickness (CMT) in post-fever retinitis (PFR) and their correlation with visual acuity and treatment. METHODS: A retrospective, observational study of patients presenting with PFR from 2013 to 2021 and with spectral domain optical coherence tomography (SD-OCT) (Heidelberg®, SpectralisTM, Heidelberg, Germany) images were included. The CT and CMT were measured at presentation and at the final visit. The CT was measured subfoveally and at points 2000 µm superior, inferior, medial, and lateral from the fovea using the caliper tool. RESULTS: Seventy-nine eyes of 65 patients were included for this study. The mean age was 39.03 (±16.00) years with female preponderance of 53.84% (n = 35). Mean follow-up duration was 30 days. Mean CT at presentation and at follow-up was 254.12 µm and 241.51 µm, respectively. CT was decreased in majority of the eyes 67.1% (n = 53) from their baseline value. Mean CMTs at presentation and final visit were 454.8 µm and 223.7 µm, respectively. Best corrected visual acuity had a positive correlation with CMT (r = 0.340; P = 0.002) and negligible correlation with CT. A significant decrease in the mean CT was noted in patients who received doxycycline either alone or in combination with a steroid as compared to those who did not receive any treatment (P < 0.001). The significance of which is unknown presently. CONCLUSION: CMT has a greater role in determining the final visual outcome than CT. CT can be reduced post-treatment with no effect on vision.

Optical coherence tomography biomarkers DROL, PROS, SND, hyperreflective walls of foveal cystoid spaces as predictors of central macular thickness and visual acuity in diabetic macular edema treated with intravitreal ranibizumab.

PURPOSE: This study aims to establish DROL (disruption of retinal outer layers), PROS (photoreceptor outer segment length), SND (subfoveal neuroretinal detachment), and hyperreflective walls of foveal cystoid spaces (HRW) as optical coherence tomography (OCT) biomarkers and predictors of central macular thickness (CMT) and visual acuity in diabetic macular edema (DME) treated with intravitreal ranibizumab (IVR). METHODS: In this prospective, interventional study performed at a tertiary care center over a span of 1 year from December 2021 to December 2022, 50 eyes of 46 patients of DME were included. Visual acuity and spectral domain OCT imaging were performed at baseline. Using inbuilt calipers on SD-OCT, the horizontal extent of DROL and the vertical extent of PROS were measured manually. SND and HRW were assessed qualitatively. IVR was administered and patients were followed up at 4, 8, and 12 weeks. RESULTS: The eyes without DROL had statistically significant (P < 0.05) lesser CMT and better BCVA (best-corrected visual acuity) (P < 0.05) after pro re nata injection of IVR. There was a positive correlation between the extent of baseline DROL with final CMT (P < 0.05) and final logMAR BCVA (P > 0.05), whereas negative correlation with the extent of baseline PROS with final CMT (P < 0.05) and final logMAR BCVA (P > 0.05). The presence of HRW and SND predicted non-resolution of CMT and worse visual acuity after treatment with IVR in DME. CONCLUSION: DROL, PROS, SND, and hyperreflective walls of foveal cystoid spaces may be utilized as qualitative as well as quantitative biomarkers to predict the post-treatment CMT and visual acuity in DME.

THE EFFECT OF INTERNAL LIMITING MEMBRANE PEELING ON THE INNER RETINAL LAYERS IN PATIENTS WITHOUT MACULAR PATHOLOGIC CONDITION.

BACKGROUND: To examine the effect of internal limiting membrane peeling on the inner retinal layers in patients without macular pathological condition. METHODS: A prospective nonrandomized trial of patients undergoing pars plana vitrectomy with internal limiting membrane peeling for pathologic condition outside the macula was performed. Optical coherence tomography including macular ganglion cell layer, inner plexiform layer, and peripapillary retinal nerve fiber layer imaging was performed before surgery, 1, 3, and 6 months postoperatively, and at the end of follow-up (ranges between 4 and 17 months). Patients with any macular pathological condition on optical coherence tomography before surgery were excluded. The main outcome measure was change in thickness of the ganglion cell layer and inner plexiform layer. RESULTS: Ten patients who underwent pars plana vitrectomy with internal limiting membrane peeling for macula-on retinal detachment were included in the analysis. The mean age was 55 years, and the mean follow up was 10.8 months. All patients completed at least two postoperative follow-up visits that included an optical coherence tomography as per the protocol (range 2-6 months). There was an immediate reduction in the global (G), inferotemporal, superotemporal, and superior (S) ganglion cell layer thickness at the first follow up as compared with the preoperative state ( P = 0.028, P = 0.027, P = 0.026, and P = 0.027 respectively). From the first follow-up visit onward until the final follow-up, the thinning persisted, although there was no further statistically significant thinning. CONCLUSION: Peeling of the internal limiting membrane causes significant ganglion cell layer thinning in maculae without pathologic condition before surgery. At up to 17 months of follow-up, this effect seems to be immediate and nonprogressive.

Closure Grading and Visual Outcome in Patients with Large Idiopathic Macular Holes: A Spectral-Domain Optical Coherence Tomography Observation.

INTRODUCTION: So far, there has been no closure grade system synthesizing morphological and microstructural features for large idiopathic macular holes (IMHs) treated by vitrectomy and internal limiting membrane (ILM) peeling. This study aimed to propose a concise one and explore its relevance with visual acuity and the related preoperative factors. METHODS: Consecutive patients with large IMHs (minimum diameter >400 µm), undergoing vitrectomy and ILM peeling, obtaining primary closure and regularly followed-up were enrolled. Preoperative clinical charts and spectral-domain optical coherence tomography (SD-OCT) parameters were reviewed. SD-OCT images and best corrected visual acuity (BCVA) were assessed at 1, 4, and 10 months postoperatively. SD-OCT features at last visit were categorized by BCVA significance, and preoperative risk factors were analyzed. RESULTS: Sixty-eight eyes from 64 patients were enrolled. The 10-month postoperative SD-OCT images were categorized into closure grade 1, 2, and 3 with successively decreased BCVA (p < 0.001). During early follow-up, part of grades 2 and 3 could evolve into the upper grade, respectively, but grade 3 could never evolve into grade 1 and exhibited the least satisfactory long-term BCVA. Binary logistic regression showed that large minimum linear diameter (MLD) was a risk factor for grade 3 occurrence (p < 0.001), with a cutoff value of 625.5 µm from the receiver operating characteristic curve for MLD predicting grade 3 occurrence (p = 0.001). CONCLUSION: Long-term closure status of large IMHs could be categorized into three grades with BCVA significance. Large horizontal MLD is a risk factor for occurrence of grade 3 closure with unsatisfactory visual recovery.

Sensitivity and specificity of SS-OCT for detecting macular pathologies vs SD-OCT.

PURPOSE: To evaluate the sensitivity and specificity of swept-source optical coherence tomography (SS-OCT) biometer compared with the gold standard spectral-domain optical coherence tomography (SD-OCT) for detecting macular pathology in patients with cataract. SETTING: Eye Centers of Tennessee, Crossville, TN. DESIGN: Prospective, cross-sectional, observational, examiner-masked. METHODS: The study included 132 participants aged 50 years and older, who underwent precataract surgery work-up. All participants underwent fixation check retinal scans using SS-OCT biometer (IOLMaster 700) as well as full macular scans using Cirrus SD-OCT. 3 independent masked examiners evaluated the scans if they were normal or had a suspected pathology. Different measures of diagnostic accuracy were calculated for 3 examiners. RESULTS: True positive rate (sensitivity) ranged from 71.1% (32/45) to 79.2% (42/53), and false negative rate was between 20.8% (11/53) and 28.9% (13/45) for the 3 examiners. True negative rate (specificity) ranged from 86.8% (59/68) to 94.1% (64/68), and false positive rate was between 5.9 (4/68) and 13.2% (9/68). The fitted receiver operating characteristic area ranged from 0.83 to 0.95. CONCLUSIONS: Using retinal SS-OCT biometer scans as a replacement of the dedicated macular SD-OCT for screening or diagnosing macular health would not be appropriate because of its low sensitivity. SS-OCT biometer may potentially fail to identify approximately one-fourth of patients who actually have the disease. Therefore, the final decision on macular health should be based on the gold standard SD-OCT scans. When full macular SD-OCT scans are not accessible, the limited retinal scan information from SS-OCT biometer may still provide useful insights into the macular health.

Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.

Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease.

Aneurysmal type 2 neovascularization: A new entity.

PURPOSE: To report three cases of aneurysmal type 2 neovascularization (AT2), a novel entity within the pachychoroid disease (PD) spectrum. METHODS: We conducted an observational retrospective study of three patients with subretinal polyps treated with intravitreal aflibercept. We reviewed clinical and imaging data of the three patients. Best corrected visual acuity (BCVA), central macular thickness (CMT), choroidal subfoveal thickness, choroidal thickness under the polyps and the presence of a dry macula were assessed at baseline and throughout the follow-up. RESULTS: All of the patients showed granular hypoautofluorescence on fundus autofluorescence. Indocyanine green angiography revealed prominent hyperfluorescent branching vascular networks ending in multiple aneurysmal dilatations. Optical coherence tomography (OCT) demonstrated that the aneurysmal lesions were localized in the subretinal space. Additionally, OCT showed retinal pigment epithelial microtears, the double-layer sign and pachyvessels. En face OCT-A perfectly defined prominent telangiectatic branching vascular networks in all the patients, but only revealed polyps in two out of the three patients. Cross-sectional OCT-A demonstrated polyps as patchy circular hypoflow signals in each case. After the intravitreal treatment, BCVA remained unimproved in all of the patients, despite decreased CMT and achievement of a dry macula, as a result of the development of subretinal fibrosis. CONCLUSION: In summary, we describe a new entity within the spectrum of PD, which we have termed AT2. This novel disease is characterized by the presence of aneurysmal dilatations in the subretinal space, along with the typical features of PD, such as choroidal vascular hyperpermeability, thickening of the choroid and pachyvessels.

Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2.

BACKGROUND: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes. OBJECTIVE: The aim was to investigate optic disc and retinal architecture in SCA2. METHODS: We evaluated 14 patients with SCA2 and 26 controls who underwent intraocular pressure measurement, fundoscopy, and macular and peripapillary spectral domain optical coherence tomography (SD-OCT). We compared SD-OCT measurements in SCA2 and controls, and the frequency of glaucomatous changes among SCA2, controls, and 76 patients with other SCAs (types 1, 3, 6, and 7). RESULTS: The macula, peripapillary retinal nerve fiber and inner plexiform layers were thinner in SCA2 than in controls. Increased cup-to-disc ratio was more frequent in SCA2 than in controls and other SCAs. CONCLUSIONS: Ocular changes are part of SCA2 phenotype. Future studies should further investigate retinal and optic nerve architecture in this disorder.

UVR and RPE - The Good, the Bad and the degenerate Macula.

Ultraviolet Radiation (UVR) has a well-established causative influence within the aetiology of conditions of the skin and the anterior segment of the eye. However, a grounded assessment of the role of UVR within conditions of the retina has been hampered by a historical lack of quantitative, and spectrally resolved, assessment of how UVR impacts upon the retina in terms congruent with contemporary theories of ageing. In this review, we sought to summarise the key findings of research investigating the connection between UVR exposure in retinal cytopathology while identifying necessary avenues for future research which can deliver a deeper understanding of UVR's place within the retinal risk landscape.

Atypical presentation of malignant hypertension.

A woman in her 30s presented with complaints of sudden onset of defective vision in the right eye for 2 days, with history of headache for a month. On examination, best corrected visual acuity was 20/40 in the right eye and 20/20 in the left eye. Anterior segment examination was normal. Fundus examination of both the eyes showed generalised arteriolar attenuation with diffuse, hyperaemic disc oedema and serous retinal detachment at macula in the right eye. Her blood pressure (BP) was 230/140 mm Hg. Other systemic evaluation was unremarkable. In the review visit, patient's BP reduced to 140/100 mm Hg, and visual acuity in the right eye improved to 20/20. Fundus in the right eye showed resolving disc oedema with macular star formation, and the left eye had developed soft exudates. This seemed to confirm the diagnosis of the disc oedema being caused by hypertension and a highly asymmetrical presentation of hypertensive retinopathy.

[Acute macular neuroretinopathy: a case report].

A 16-year-old female patient experienced a rapid decline in bilateral visual acuity accompanied by central scotomas for 5 days following coronavirus disease 2019 infection. Ocular examination revealed findings consistent with acute macular neuroretinopathy. Structural en face imaging using optical coherence tomography demonstrated a wedge-shaped lesion with low reflectivity directed towards the fovea in both eyes. B-scan images revealed localized hyperreflective bands involving the outer nuclear layer and photoreceptor layer, with discontinuity of the ellipsoid zone. Based on clinical presentation and examination findings, a diagnosis of bilateral acute macular neuroretinopathy was established.

AN EIGHT-YEAR RETROSPECTIVE STUDY OF THE ETIOLOGIES, CLINICAL CHARACTERISTICS, AND VISUAL OUTCOMES OF PEDIATRIC LAMELLAR MACULAR HOLE.

PURPOSE: To explore the etiologies, characteristics, and prognosis of lamellar macular hole (LMH) in pediatric patients. METHODS: A consecutive series of 59 patients (62 eyes) aged <16 years with MHs (lamellar and full-thickness) treated from 2013 to 2021 in a tertiary center was reviewed. Data collected included demographic and clinical characteristics, management, and outcomes of patients presenting with LMH. RESULTS: Twelve eyes (19.4%) of 11 children had LMH. Seven patients were male, with an average age of 6.9 years. The primary pathologies included X-linked retinoschisis in six eyes (50%); familial exudative vitreoretinopathy in two (16.7%); and ocular toxocariasis, Coats disease, persistent hyperplastic primary vitreous, and idiopathic LMH with associated lenticonus in one eye (8.3%) each. Four eyes (36.4%) showed tractional appearance and seven (63.6%) degenerative. All degenerative LMH showed ellipsoidal zone defect, significantly higher than that in the tractional group (25%, 1/4) ( P = 0.024). Five eyes achieved closed LMH and limited visual gain, four underwent surgery, and one closed spontaneously. CONCLUSION: X-linked retinoschisis was the most frequent primary cause in pediatric LMH. Two types of LMH can be classified: tractional and degenerative. The latter showed a higher rate of ellipsoidal zone defect. Vision improved after LMH closed, regardless of surgery or spontaneous closure.

Effects of diabetic retinopathy on longitudinal morphological changes in AMD-associated type 1 macular neovascularization.

The purpose of this study was to investigate the effect of diabetic retinopathy (DR) on longitudinal morphological changes in AMD-associated type 1 macular neovascularization using optical coherence tomography angiography (OCTA). We enrolled fifty treatment-naïve eyes with a diagnosis of exudative AMD and type 1 MNV. Twenty of 50 eyes were affected by mild DR. En face OCT angiography were examined for the MNV lesion area (mm2), the MNV flow area (mm2), the central macular thickness (CMT) and the BCVA. The OCTA acquisition was performed at the following visits: (i) before the loading phase (LP) of intravitreal injection of aflibercept (T1), and (ii) 1 month after the last intravitreal injection of loading phase comprising 3 monthly injections (T2). All morpho-functional parameters showed a significantly change at T2 compared to T1 values in both groups. Furthermore, we found a greater MNV area reduction after LP in eyes without DR (P = 0.023). With regard to the remaining parameters, no significant changes were found between two groups (P > 0.05). Our analysis revealed a less MNV area reduction after loading dose of anti-VEGF therapy in eyes affected by diabetic retinopathy.

Concomitant paracentral acute middle maculopathy and acute macular neuroretinopathy in eyes post-blunt trauma.

Purpose: To analyze the imaging characteristics and the clinical course of patients showing concomitant paracentral acute middle maculopathy (PAMM) and acute macular neuroretinopathy (AMN) post-blunt trauma. Methods: PAMM and AMN lesions post-blunt trauma diagnosed on enhanced depth imaging optical coherence tomography (EDI-OCT) were recruited for the study. Results: : Thirteen eyes of 13 individuals with a history of blunt trauma were included in the study, of whom 11 (85%) were males. Mean age of the patients was 33.62 (range 16-67) years. Mean visual acuity at presentation and the last visit was 1.67 log of minimum angle of resolution (logMAR) and 0.82 logMAR, respectively. Mean interval between trauma and imaging was 5.08 (range 1-15) days. All patients had unilateral involvement, with the right eye being involved in 10 patients (77%). All patients had concomitant PAMM and AMN lesions. Conclusion: : Presence of coincident PAMM and AMN suggests a common pathophysiologic etiology, but the description of concomitant PAMM and AMN in the setting of blunt trauma to eye is hitherto unreported. Identifying AMN in a setting of PAMM requires meticulous examination of the OCT and OCTA images. It can be a cause of suboptimal visual recovery in such eyes.

Comparison of the morphological characteristics of the choroidal sublayer between idiopathic macular holes and epiretinal membranes with automatic analysis.

PURPOSE: To compare the choroidal sublayer morphologic features between idiopathic macular hole (IMH) and idiopathic epiretinal membrane (iERM) on spectral-domain optical coherent tomography (SD-OCT) using an automatic segmentation model. METHODS: Thirty-three patients with idiopathic IMHs and 44 with iERMs who underwent vitrectomies were involved. The enhanced depth imaging mode of SD-OCT was used to obtain the B-scan image after single line scanning of the macular fovea. The choroidal sublayer automatic analysis model divides the choroidal into the choroidal large vessel layer, the middle vessel layer and the small vessel layer (LVCL, MVCL and SVCL, respectively) and calculates the choroidal thickness (overall, LVCL, MVCL and SVCL) and vascular index (overall, LVCL, MVCL and SVCL). The morphological characteristics of the choroidal sublayer in the ERM eyes and the IMH eyes were compared. RESULTS: The mean choroidal thickness in the macular centre of the IMH eyes was significantly thinner than that of the ERM eyes (206.35 ± 81.72 vs. 273.33 ± 82.31 µm; P < 0.001). The analysis of the choroidal sublayer showed that the MVCL and SVCL macular centres and 0.5-1.5 mm of the nasal and temporal macula were significantly thinner in the IMH eyes than in the ERM eyes (P < 0.05), and there was a difference in the macular centre of the LVCL between the two groups (P < 0.05). In contrast, the choroidal vascular index of the macular centre in the IMH eyes was significantly higher than that in iERM eyes (0.2480 ± 0.0536 vs. 0.2120 ± 0.0616; P < 0.05). There was no significant difference in the CVI of other parts of the macula, the LVCL or MVCL between the two groups. CONCLUSION: The choroidal thickness of the IMH eyes was significantly thinner than that of the iERM eyes, which was mainly observed in 3 mm of the macular centre and the MVCL and SVCL layers of the choroid. The choroidal vascular index of the IMH eyes was higher than that of the iERM eyes. These findings suggest that the choroid may be involved in the pathogenesis of IMH and iERM.