Retinal sublayer analysis in juvenile systemic lupus erythematosus without lupus retinopathy.

INTRODUCTION: We aimed to analyze the thicknesses of the retinal sublayer and peripapillary retinal nerve fiber layer (pRNFL) in patients with juvenile systemic lupus erythematosus (JSLE) without lupus retinopathy. METHODS: Thirty-six patients with JSLE (36 eyes) and 30 control subjects (30 eyes) were included retrospectively. Demographic data, disease duration, and clinical manifestations were recorded. Optical coherence tomography was used to examine the macula and optic disc. The thicknesses of the retina, ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), retinal pigment epithelium (RPE), and pRNFL were measured. The correlation between the thickness of retina and disease duration, erythrocyte sedimentation rate (ESR) were investigated. RESULTS: The retinal thicknesses of I3 and T3 were thinner in the JSLE group than in the control group (P = 0.019, P = 0.043, respectively). The thicknesses of the I3 and S6 sectors of the GCL decreased significantly (P = 0.013, and P = 0.022, respectively). The thickness of the S6 sector of the IPL was reduced in the JSLE group compared with the control group (P = 0.047). The JSLE group showed significant decrease in the thickness of the central sector of the ONL (P = 0.034). No statistically significant differences in INL, OPL, RPE, and pRNFL thicknesses were found. The retinal thicknesses of I3 (r = -0.386, P = 0.020) and T3 (r = -0.384, P = 0.021) presented negative associations with ESR, but had no significant correlations with disease duration. CONCLUSIONS: Retinal thinning was observed in patients with JSLE without lupus retinopathy, and this change was more pronounced in the inner layer. Key Points • Retinal thinning occurs in JSLE patients without lupus retinopathy. • Changes in retinal thicknesses are related to the ESR.

Assessment of the Retinal Ganglion Cell Layer after Uncomplicated Cataract Surgery.

(1) Background: This research aimed to evaluate the changes in ganglion cell layer thickness (GCLT) after uncomplicated cataract surgery in patients without previous ocular pathology and the impact of the appearance of cystoid macular edema on the GCLT and visual acuity. (2) Methods: The evaluation of 174 patients was performed with the indication of uncomplicated cataract surgery. The variables analyzed were demographic data, best-corrected visual acuity (BCVA), cataract type and OCT (Optical Coherence Tomography) measurements of central macular thickness (CMT), and the presence of cysts and GCLT preoperatively and one day, one and three months after surgery. (3) Results: There was a relationship between the postoperative increase in retinal GCLT and BCVA after uncomplicated cataract surgery. The presence of microcysts reduced the thickness of the GCL, which is significantly related to the loss of BCVA. The appearance of cystoid macular edema one month after surgery was also related to the preoperative CMT. There was a statistically significant decrease in preoperative GCL but a statistically significant increase in preoperative CMT in patients with microcysts one-month post-surgery. (4) Conclusions: There is a relationship between postoperative retinal GCLT and BCVA after uncomplicated cataract surgery. The presence of microcysts significantly reduces the thickness of the GCL, which is significantly related to the loss of BCVA.

Macular OCT's Proficiency in Identifying Retrochiasmal Visual Pathway Lesions in Multiple Sclerosis-A Pilot Study.

Optical coherence tomography (OCT) is a non-invasive imaging technique based on the principle of low-coherence interferometry that captures detailed images of ocular structures. Multiple sclerosis (MS) is a neurodegenerative disease that can lead to damage of the optic nerve and retina, which can be depicted by OCT. The purpose of this pilot study is to determine whether macular OCT can be used as a biomarker in the detection of retrochiasmal lesions of the visual pathway in MS patients. We conducted a prospective study in which we included 52 MS patients and 27 healthy controls. All participants underwent brain MRI, visual field testing, and OCT evaluation of the thicknesses of the peripapillary retinal nerve fiber layer (pRNFL), macular ganglion cell layer (GCL), and macular inner plexiform layer (IPL). OCT measurements were adjusted for optic neuritis (ON). VF demonstrated poor capability to depict a retrochiasmal lesion identified by brain MRI (PPV 0.50). In conclusion, the OCT analysis of the macula appears to excel in identifying retrochiasmal MS lesions compared to VF changes. The alterations in the GCL and IPL demonstrate the most accurate detection of retrochiasmal visual pathway changes in MS patients.

Homonymous Hemiatrophy of Macular Ganglion Cell Layer as a Marker of Retrograde Neurodegeneration in Multiple Sclerosis-A Narrative Review.

Retrograde axonal neurodegeneration along the visual pathway-either direct or trans-synaptic-has already been demonstrated in multiple sclerosis (MS), as well as in compressive, vascular, or posttraumatic lesions of the visual pathway. Optical coherence tomography (OCT) can noninvasively track macular and optic nerve changes occurring as a result of this phenomenon. Our paper aimed to review the existing literature regarding hemimacular atrophic changes in the ganglion cell layer identified using OCT examination in MS patients without prior history of optic neuritis. Homonymous hemimacular atrophy has been described in post-chiasmal MS lesions, even in patients with normal visual field results. Temporal and nasal macular OCT evaluation should be performed separately in all MS patients, in addition to an optic nerve OCT evaluation and a visual field exam.

Optical coherence tomography findings in primary headache disorders: is pain duration a clinical correlate?

OBJECTIVE: Ganglion cell layer thickness (GCLT) may be used as a potential marker for central neural changes. We compared GCLT by using spectral domain optical coherence tomography (SD-OCT) in patients with primary headache disorders and healthy controls. We seek whether there was any difference between the headache groups and whether any clinical parameters correlated to GCLT. METHODS: Fifty-three primary headache patients, 11 age and sex-matched healthy subjects were included in this cross-sectional study after power analysis. All subjects underwent SD-OCT. The duration of disorder, headache frequency, severity, duration of pain, presence of ocular pain, and accompanying symptoms have been collected. RESULTS: Mean GCLT of the headache group was 15.7 ± 3.8 µm (mean ± standard deviation), and the control group was 17.5 ± 2.4. The difference was not statistically significant. When we compared the controls, migraine and tension-type headache patients' GCLT values, we found a significant difference (ANOVA, p = 0.001). Migraine patients had thinner GCLT compared to all non-migraine headache patients (p = 0.01). Intraocular pressure values of migraine patients and non-migraine patients were not statistically significantly different (p = 0.13). The only clinical parameter that correlated with GCLT was pain duration (r = -0.43 and p = 0.01). The patients with white matter lesions had thinner GCLT (p = 0.046). CONCLUSION: Our results suggest that not long-term suffering from pain but migraine pathophysiology itself seems to affect neuroretinal tissue. Pain duration was moderately and inversely correlated to GCLT, meaning that the longer the headache, the thinner the ganglion cell layer is.

Migraine eye: correlation between migraine and the retina.

Background: Activation of the trigeminal vascular system in migraine releases vasoactive neurotransmitters, causing abnormal vasoconstriction, which may affect the ocular system, leading to retinal damage. The purpose of our study was to determine whether there are differences in each retinal layer between migraine patients and healthy subjects. Methods: A case-control study recruited 38 migraine patients and 38 age- and sex-matched controls. Optical coherence tomography was used to measure the thickness of the peripapillary and macular retinal nerve fiber layer (pRNFL and mRNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), and inner nuclear layer (INL). Results: The mean ages of the migraine patients and controls were 36.29 ± 9.45 and 36.45 ± 9.27 years, respectively. Thirty-four patients (89.48%) in both groups were female. The mean disability score was 19.63 ± 20.44 (indicating severe disability). The superior-outer INL of migraine patients were thicker than controls. Thickness of the GCL at temporal-outer sector and mRNFL at the superior-outer sector of the headache-side eyes was reduced. However, the INL of the headache-side-eye showed negative correlation with the disability score. This is the first study having found thinning of the GCL and mRNFL of the headache-side eyes. The INL was also thickened in migraines but showed negative correlation with the disability score. Conclusions: Increased INL thickness in migraine patients may result from inflammation. The more severe cases with a high disability score might suffered progressive retinal neuronal loss, resulting in thinner INL than less severe cases.

A challenging differential diagnosis - Leber's Hereditary Optic Neuropathy.

Leber's hereditary optic neuropathy (LHON) is the most common maternally inherited disease linked to mitochondrial DNA (mtDNA). The patients present with subacute asymmetric bilateral vision loss. Approximately 95% of the LHON cases are caused by m.3460G>A (MTND1), m.11778G>A (MTND4), and m.14484T>C (MTND6) mutations. The hallmark of hereditary optic neuropathies determined by mitochondrial dysfunction is the vulnerability and degeneration of retinal ganglion cells (RGC). We present the case of a 28-year-old man who came to our clinic complaining of a subacute decrease in visual acuity of his left eye. From his medical history, we found out that one month before he had the same symptoms in the right eye. From the family history, we noted that an uncle has had vision problems since childhood. We carried out complete blood tests, including specific antibodies for autoimmune and infectious diseases. Laboratory tests and MRI were within normal limits. A blood test of the mtDNA showed the presence of 11778 G>A mutation on the mtND6 gene. The medical history, the fundus appearance, the OCT, and the paraclinical investigations, made us diagnose our patient with Leber's hereditary optic neuropathy. As soon as possible, we began the treatment with systemic idebenone, 900 mg/day. We examined the patient 2, 6, and 10 weeks after initiating the treatment. Abbreviations: LHON = Leber's Hereditary Optic Neuropathy, mtDNA = mitochondrial DNA, VA = visual acuity, RE = right eye, LE = left eye, OCT = Optical coherence tomography, pRNFL = peripapillary retinal nerve fiber layer, GCL = retinal ganglion cells layer, MRI = magnetic resonance imaging, VEP = visual evoked potentials, VEP IT = VEP implicit time, VEP A = VEP amplitude.

Posterior segment parameters after uveitic cataract surgery: A prospective study with 1-year results.

PURPOSE: To evaluate the changes in posterior segment after uncomplicated cataract surgery in uveitic patients. METHODS: Retinal nerve fiber layer thickness (RNFLT), ganglion cell layer thickness (GCLT), central macular thickness (CMT), and choroidal thickness (CT) of 38 eyes of 28 patients were measured pre- and postoperatively on day 1, week 1, and month 1, 3, 6, 9, and 12. RESULTS: The RNFLT increased after surgery. Although the measurements taken were higher than the baseline CMT at all postoperative times, no significant difference was detected between the paired comparisons. The GCLT was found to be higher than the baseline value in all quadrants at the 12th month. A decrease in CT was observed at 5 measured points on the 1st day compared to the baseline. CONCLUSION: During the 1-year follow-up, the effect of cataract surgery on the retina and choroid in uveitic eyes was most evident at the postoperative month 1.

Effects of sodium valproate and levetiracetam on posterior segment parameters in children with epilepsy.

PURPOSE: To evaluate changes in posterior segment parameters in pediatric patients with epilepsy using sodium valproate or levetiracetam monotherapy for at least 12 months. METHODS: This study included 45 children with generalized epilepsy aged 6-17 years and 32 age- and gender-matched healthy subjects. The patients were assigned to three groups: Group 1 included patients using valproate monotherapy at a dose of 20-40 mg/kg/day, group 2 included patients using levetiracetam monotherapy at a dose of 20-40 mg/kg/day, and group 3 consisted of healthy controls. Peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell layer-inner plexiform layer (mGCIPL) thicknesses were measured using spectral-domain optical coherence tomography (OCT). RESULTS: No significant differences were noted between the groups regarding age, gender distribution, visual acuity, spherical equivalent, and intraocular pressure (p > 0.05). The average and temporal, nasal, and superior quadrants RNFL values were significantly thinner in group 1 than in group 2 (p = 0.001, p = 0.023, p = 0.011, and p = 0.001, respectively) and group 3 (p < 0.001, p = 0.032, p < 0.001, and p = 0.001, respectively). The OCT parameters were similar in groups 2 and 3 (p > 0.05). A negative correlation was observed in group 1 between only the average mGCIPL and the treatment dose (r = - 0.501). In group 2, no significant correlation was found between OCT parameters and the duration of epilepsy treatment, dose of treatment, and age at treatment onset values (p > 0.05). CONCLUSION: These findings support that there is an association between sodium valproate treatment and the reduction of RNFL thickness in epilepsy. Levetiracetam treatment appears to be a safe option, but care should be taken regarding ocular side effects that may occur with long-term and high-dose use of sodium valproate.

Choroidal, retinal, and optic nerve changes in rheumatoid arthritis and primary sjogren's syndrome patients: comparison with each other and healthy subjects.

PURPOSE: The present study aims to evaluate the optic nerve, macula, and choroidal changes in both rheumatoid arthritis (RA) and primary Sjögren's syndrome (SjS) patients, and to compare these findings with age-matched healthy volunteers. METHODS: This study included 46 RA patients, 33 primary SjS patients, and 37 age-matched healthy volunteers. All of the patients underwent a thorough ophthalmological examination, during which measurements of the retinal nerve fiber layer (RNFL), ganglion cell layer(GCL), and subfoveal choroidal thickness (CT) were taken using OCT (optical coherence tomography). The measurements taken from the right eye of each patient were used to compare among the groups. RESULTS: RNFL thickness in superior quadrant was found to be statistically significantly thinner in the eyes with RA when compared to the control group (p = 0.022). In the nasal quadrant, the RNFL thickness was significantly thinner in patients with primary SjS compared to healthy individuals (p = 0.036). Also, the temporal quadrant RNFL was significantly thinner in RA patients than in the primary SjS patients (p = 0.033). GCL thickness was observed to be thinner in all quadrants of both RA and primary SjS groups compared to the control group. However, the difference was not found to be statistically significant. Subfoveal CT was observed to be thicker in RA and SjS groups compared to the control group, but this difference was also not statistically significant. CONCLUSION: Systemic autoimmune diseases like RA and primary SjS can lead to a decrease in RNLF and GCL thickness, which can impair visual acuity even in the absence of ocular symptoms. Therefore, monitoring changes in the optic nerve, retina, and choroid layer are crucial in these patients.

Retinal OCT biomarkers and their association with cognitive function-clinical and AI approaches.

Retinal optical coherence tomography (OCT) biomarkers have the potential to serve as early, noninvasive, and cost-effective markers for identifying individuals at risk for cognitive impairments and neurodegenerative diseases. They may also aid in monitoring disease progression and evaluating the effectiveness of interventions targeting cognitive decline. The association between retinal OCT biomarkers and cognitive performance has been demonstrated in several studies, and their importance in cognitive assessment is increasingly being recognized. Machine learning (ML) is a branch of artificial intelligence (AI) with an exponential number of applications in the medical field, particularly its deep learning (DL) subset, which is widely used for the analysis of medical images. These techniques efficiently deal with novel biomarkers when their outcome for the applications of interest is unclear, e.g., for diagnosis, prognosis prediction, disease staging, or any other relevance to clinical practice. However, using AI-based tools for medical purposes must be approached with caution, despite the many efforts to address the black-box nature of such approaches, especially due to the general underperformance in datasets other than those used for their development. Retinal OCT biomarkers are promising as potential indicators for decline in cognitive function. The underlying mechanisms are currently being explored to gain deeper insights into this relationship linking retinal health and cognitive function. Insights from neurovascular coupling and retinal microvascular changes play an important role. Further research is needed to establish the validity and utility of retinal OCT biomarkers as early indicators of cognitive decline and neurodegenerative diseases in routine clinical practice. Retinal OCT biomarkers could then provide a new avenue for early detection, monitoring and intervention in cognitive impairment with the potential to improve patient care and outcomes.

[Retinal optical coherence tomography biomarkers and their association with cognitive functions : Clinical and artificial intelligence approaches. German version]. / Retinale optische Kohärenztomographie Biomarker und ihr Zusammenhang mit kognitiven Funktionen : Klinische Praxis und künstliche Intelligenz Ansätze.

Retinal optical coherence tomography (OCT) biomarkers have the potential to serve as early, noninvasive, and cost-effective markers for identifying individuals at risk for cognitive impairments and neurodegenerative diseases. They may also aid in monitoring disease progression and evaluating the effectiveness of interventions targeting cognitive decline. The association between retinal OCT biomarkers and cognitive performance has been demonstrated in several studies, and their importance in cognitive assessment is increasingly being recognized. Machine learning (ML) is a branch of artificial intelligence (AI) with an exponential number of applications in the medical field, particularly its deep learning (DL) subset, which is widely used for the analysis of medical images. These techniques efficiently deal with novel biomarkers when their outcome for the applications of interest are unclear, e.g., for the diagnosis, prognosis prediction and disease staging. However, using AI-based tools for medical purposes must be approached with caution, despite the many efforts to address the black-box nature of such approaches, especially due to the general underperformance in datasets other than those used for their development. Retinal OCT biomarkers are promising as potential indicators for decline in cognitive function. The underlying mechanisms are currently being explored to gain deeper insights into this relationship linking retinal health and cognitive function. Insights from neurovascular coupling and retinal microvascular changes play an important role. Further research is needed to establish the validity and utility of retinal OCT biomarkers as early indicators of cognitive decline and neurodegenerative diseases in routine clinical practice. Retinal OCT biomarkers could then provide a new avenue for early detection, monitoring and intervention in cognitive impairment with the potential to improve patient care and outcomes.

The macular retinal ganglion cell layer as a biomarker for diagnosis and prognosis in multiple sclerosis: A deep learning approach.

PURPOSE: The macular ganglion cell layer (mGCL) is a strong potential biomarker of axonal degeneration in multiple sclerosis (MS). For this reason, this study aims to develop a computer-aided method to facilitate diagnosis and prognosis in MS. METHODS: This paper combines a cross-sectional study of 72 MS patients and 30 healthy control subjects for diagnosis and a 10-year longitudinal study of the same MS patients for the prediction of disability progression, during which the mGCL was measured using optical coherence tomography (OCT). Deep neural networks were used as an automatic classifier. RESULTS: For MS diagnosis, greatest accuracy (90.3%) was achieved using 17 features as inputs. The neural network architecture comprised the input layer, two hidden layers and the output layer with softmax activation. For the prediction of disability progression 8 years later, accuracy of 81.9% was achieved with a neural network comprising two hidden layers and 400 epochs. CONCLUSION: We present evidence that by applying deep learning techniques to clinical and mGCL thickness data it is possible to identify MS and predict the course of the disease. This approach potentially constitutes a non-invasive, low-cost, easy-to-implement and effective method.

Retinal clues for selective neuronal loss in multiple sclerosis.

OBJECTIVE: The relationship between the cell body layer and the dendritic network layer of the retina and cognitive performance (CP) in MS patients has not been examined separately. The objective of this study is to predict cognitive impairment (CI) in RRMS patients and to examine the relationship between CP and ganglion cell layer (GCL), inner plexiform layer (IPL), and GCL divided by IPL (GCL/IPL). METHODS: Ophthalmological evaluation, retinal segmentation, and Symbol Digit Modalities Test (SDMT) were performed on 102 RRMS patients and 54 healthy subjects. The relationships of GCL, IPL, and GCL/IPL with CP in eyes without a history of optic neuritis were investigated using Spearman's correlation. Models were created by accepting 1 standard deviation less of the SDMT mean of the control group as the limit for CI. The cutoff value of the GCL/IPL variable that could predict CI was calculated by ROC analysis, and the ability to accurately predict CI was tested with binary logistic regression. RESULTS: No correlation was found between OCT parameters and CP in healthy subjects. Correlation was found between GCL thickness and GCL/IPL variable and CP in RRMS patients (r=0.235, r=0.667 respectively). A GCL/IPL value of 1.255 was able to identify CI with 81.8% sensitivity and 75.9% specificity (AUC=0.844, LR=3.38) and predicted CI with 74.5% accuracy (Nagelkerke R2=0.439). CONCLUSION: In RRMS patients, the IPL thickness is unrelated to CP. Therewithal, the GCL/IPL-CP relationship is stronger than the GCL-CP relationship and GCL/IPL can predict CI.

Sensitivity, Specificity, and Cutoff Identifying Optic Atrophy by Macular Ganglion Cell Layer Volume in Syndromic Craniosynostosis.

PURPOSE: To determine the sensitivity, specificity, and cutoff of macular ganglion cell layer (GCL) volume consistent with optic atrophy in children with syndromic craniosynostosis and to investigate factors independently associated with reduction in GCL volume. DESIGN: Retrospective cross-sectional study. PARTICIPANTS: Patients with syndromic craniosynostosis evaluated at Boston Children's Hospital (2010-2022) with reliable macular OCT scans. METHODS: The latest ophthalmic examination that included OCT macula scans was identified. Age at examination, sex, ethnicity, best-corrected logarithm of the minimum angle of resolution (logMAR) visual acuity, cycloplegic refraction, and funduscopic optic nerve appearance were recorded in addition to history of primary or recurrent elevation in intracranial pressure (ICP), Chiari malformation, and obstructive sleep apnea (OSA). Spectral-domain OCT software quantified segmentation of macula retinal layers and was checked manually. MAIN OUTCOME MEASURES: The primary outcome was determining sensitivity, specificity, and optimal cutoff of GCL volume consistent with optic atrophy. The secondary outcome was determining whether previously elevated ICP, OSA, Chiari malformation, craniosynostosis diagnosis, logMAR visual acuity, age, or sex were independently associated with lower GCL volume. RESULTS: Median age at examination was 11.9 years (interquartile range, 8.5-14.8 years). Fifty-eight of 61 patients (112 eyes) had reliable macula scans, 74% were female, and syndromes represented were Apert (n = 14), Crouzon (n = 17), Muenke (n = 6), Pfeiffer (n = 6), and Saethre-Chotzen (n = 15). Optimal cutoff identifying optic atrophy was a GCL volume < 1.02 mm3 with a sensitivity of 83% and specificity of 77%. Univariate analysis demonstrated that significantly lower macular GCL volume was associated with optic atrophy on fundus examination (P < 0.001), Apert syndrome (P < 0.001), history of elevated ICP (P = 0.015), Chiari malformation (P = 0.001), OSA (P < 0.001), male sex (P = 0.027), and worse logMAR visual acuity (P < 0.001). Multivariable median regression analysis confirmed that only OSA (P = 0.005), optic atrophy on fundus examination (P = 0.003), and worse logMAR visual acuity (P = 0.042) were independently associated with lower GCL volume. CONCLUSIONS: Surveillance for optic atrophy by GCL volume may be useful in a population where cognitive skills can limit acquisition of other key ophthalmic measures. It is noteworthy that OSA is also associated with lower GLC volume in this population. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Ocular repercussions in COVID-19 patients: structural changes of the retina and choroid.

BACKGROUND: Neurotropic capabilities of SARS-COVs allow viruses to reach the central nervous system by hematogenous neuronal dissemination. The human retina, as an extension of the Central Nervous System, may have some neurodegenerative and/or vascular modifications related to COVID-19. OBJECTIVES: To evaluate choroidal and inner neural layers in participants previously recovered from COVID-19 compared to the control group using optical coherence tomography. METHODS: With a cross-sectional approach, the sample (n = 96), constituted by patients who have recovered from COVID-19 (n = 56) and healthy participants control group (n = 40) were ophthalmologically characterized. The neurodegenerative and vascular histological assessment was performed using SD-OCT and the mean thickness was measured in Early Treatment Diabetic Retinopathy Study (ETDRS) subfields. Retinal nerve fiber layer, Ganglion cell layer and subfoveal choroidal thickness were obtained through semi-automatic measurement. RESULTS: A total of 40 controls (27 women [67.5%]) and 56 COVID-19 participants (34 women [60.8%]) were included in this first report. There were retinal thickness significant differences in nearly all inner ETDRS subfields: nasal 3 mm (p = .025), I3 (p = .049), and temporal 3 mm (p = .009). Also, a decrease in neural layers was found in the nasal 3 mm (p = .049) and temporal 3 mm (p = .029) during ganglion cell layer assessment. The peripapillary retinal nerve fiber layer thickness was thinner in the COVID-19 group in superior temporal (p = .019), nasal (p = .002), inferior temporal (p = .046) and global (p = .014). Concerning the subfoveal choroidal measurement, an increase was observed in the COVID-19 group (p = .002). CONCLUSION: Participants who had recovered from COVID-19 showed a non-glaucomatous neuropathy trend pattern. We found differences closer to the classic description of the "bow-tie" observed in other neurological as compressive neuropathies at the chiasma location. OCT assessment also showed an increase in choroidal thickness as a result of vascular changes.

Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review.

Purpose: To present results of contemporary multimodal ophthalmic imaging in a case of maternally inherited diabetes and deafness (MIDD) and a literature review of MIDD. Methods: A case of a 47-year-old female with diabetes mellitus, severe insulin resistance, familial lipodystrohy, deafness and increasing problems with vision is reported. A full ophthalmic examination was done, including best corrected visual acuity (BCVA, LogMAR), funduscopy, and imaging studies: optical coherence tomography (OCT), OCT angiography (OCT-A), fundus autofloresence (FAF), visual fields (HVF) 10-2 , electrophysiology (EP) and genetic testing were performed. Literature available on the topic was reviewed. Results: BCVA was 0.06 LogMAR in the right eye and 0.1 LogMAR in the left. Funduscopy revealed atrophy (AT) and pigmentary changes but no diabetic retinopathy. HVF confirmed corresponding defects. The imaging and diagnostic tests showed the following abnormalities: FAF: hypoautofluoresence in areas of AT and mottled appearance in the macular and peripapillary area; OCT: attenuation of outer retinal layers and retinal pigment epithelium (RPE) in the AT; OCT-A: thinning of the deep capillary plexus and choriocapillaris; EP: abnormalities on full field electroretinogram (ERG), 30 Hz flicker and single cone flash response; multifocal ERG: reduced responses; genetic testing: A-to-G transition mutation at position 3243 of the mitochondrial genome, typical for MIDD. After one year OCT ganglion cell analysis showed loss of thickness. Conclusions: Genetic testing should be considered in diabetic patients with pigmentary retinopathy. Imaging studies and diagnostic testing showed structural and functional retinal changes, confined to the macula and progressive in nature.

Retinal Microvasculature Image Analysis Using Optical Coherence Tomography Angiography in Patients with Post-COVID-19 Syndrome.

Several optical coherence tomography angiography (OCT-A) studies have demonstrated retinal microvascular changes in patients post-SARS-CoV-2 infection, reflecting retinal-systemic microvasculature homology. Post-COVID-19 syndrome (PCS) entails persistent symptoms following SARS-CoV-2 infection. In this study, we investigated the retinal microvasculature in PCS patients using OCT-angiography and analysed the macular retinal nerve fibre layer (RNFL) and ganglion cell layer (GCL) thickness via spectral domain-OCT (SD-OCT). Conducted at the Manchester Royal Eye Hospital, UK, this cross-sectional study compared 40 PCS participants with 40 healthy controls, who underwent ophthalmic assessments, SD-OCT, and OCT-A imaging. OCT-A images from the superficial capillary plexus (SCP) were analysed using an in-house specialised software, OCT-A vascular image analysis (OCTAVIA), measuring the mean large vessel and capillary intensity, vessel density, ischaemia areas, and foveal avascular zone (FAZ) area and circularity. RNFL and GCL thickness was measured using the OCT machine's software. Retinal evaluations occurred at an average of 15.2 ± 6.9 months post SARS-CoV-2 infection in PCS participants. Our findings revealed no significant differences between the PCS and control groups in the OCT-A parameters or RNFL and GCL thicknesses, indicating that no long-term damage ensued in the vascular bed or retinal layers within our cohort, providing a degree of reassurance for PCS patients.

Early effects of cardiopulmonary bypass surgery on retinal nerve fiber layer and ganglion cell layer.

PURPOSE: To determine the effects of cardiopulmonary bypass surgery on retinal nerve fiber layer, ganglion cell layer, and macula by optic coherens tomography (OCT). METHOD: Sixty-six eyes of 33 patients aged between 44 and 74 who were indicated for cardiopulmonary bypass surgery in the cardiovascular surgery clinic were included in the study. Routine ophthalmologic examinations of all patients were performed before and 1 week after surgery. In addition, 3D(H) Macula+5 Line Cross 12 × 9 mm mod and Peripapilar 3D Disk 6 × 6 mm mod data were analyzed with OCT (Topcon, Triton Swept Source-OKT, Tokyo, Japan) device. Peripapillary total, superior, inferior retinal nerve fiber layer (RNFL), optic disc cavity volume, cup-to-disc ratio, macular ganglion cell layer (GCL), macular thickness were compared before and after surgery. RESULTS: After cardiopulmonary bypass surgery, thickening was detected in the total RNFL (p<0.001), superior RNFL (p = 0.01) and inferior RNFL (p<0.001) layers. There was no change in the values of GCL, macular thickness, optic disc cupping volume, cup-to-disc ratio after surgery (p>0.05). There was a positive correlation (r = 0.392 p<0.05) between the patients' blood oxygen (PO2) values during bypass surgery with their post-surgical GCL+ values, and a negative correlation between optic disc cup volumes (r=-0.349 p<0.05). CONCLUSION: RNFL thickening has been detected in patients undergoing cardiopulmonary bypass surgery. This thickening may occur secondary to ischemic edema that occurs during surgery. Considering the late complications of ischemic edema in the RNFL, oxygen levels should be kept at an optimum level during surgery and long-term ophthalmologic follow-ups should be performed.

Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis.

Introduction: Congenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients. Although the optical coherence tomography (OCT) findings of macular retinoschisis have been well investigated, those of peripheral retinoschisis have rarely been reported. This study aimed to report the ultra-widefield OCT findings of the peripheral retina in patients with XLRS. Methods: Medical records of 10 Japanese patients (19 eyes) with clinically and/or genetically diagnosed XLRS were retrospectively reviewed. Funduscopic, electroretinographic, and OCT findings were reviewed and evaluated. Some were also genetically evaluated for the RS1 gene. Results: OCT of the macula revealed schises and/or cystoid changes in the inner nuclear layer (INL) and outer nuclear layer. In contrast, OCT of the peripheral retina revealed schises and/or cystoid changes in the INL in eight eyes (44%), and/or splitting in the ganglion cell layer (GCL) in 10 (56%) of the 18 eyes with clear OCT images. No schisis or cystoid changes were found in the peripheral OCT images of eight eyes (44%). A 16-year-old boy presented with retinal splitting of the GCL and INL of the inferior retina, although he had no ophthalmoscopic peripheral retinoschisis. Genetic examinations were performed on three patients, all of whom had reported missense mutations in the RS1 gene. Conclusion: In XLRS, peripheral bullous retinoschisis results from GCL splitting in the retina. One of the 10 patients with XLRS showed intraretinal retinoschisis in the GCL in the inferior periphery, which was unremarkable on ophthalmoscopy (occult retinoschisis). Although both peripheral bullous retinoschisis and occult retinoschisis showed splitting/cystic changes in the GCL, further studies are needed to determine whether occult retinoschisis progresses to bullous retinoschisis.