Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing.

INTRODUCTION: Familial Exudative Vitreoretinopathy (FEVR) is a heritable retinal vascular disease characterized by incomplete vascularization of the peripheral retina resulting in ischemia. Fifty percent of FEVR cases 10 are due to known pathogenic genetic variants, and disease phenotype can vary greatly. FEVR is a clinical diagnosis, however, genetic testing can play a key role in screening for FEVR in genetically susceptible populations, thus leading to early treatment and improved patient outcomes. CASE: A 2-year-old male with no known past ocular or medical history was diagnosed with FEVR upon examination under anesthesia and multimodal retinal imaging. Genetic testing identified a Jagged 1 (JAG1) variant of uncertain significance, 15 which has been linked to FEVR in recent studies. Despite close follow-up and treatment, the patient experienced a funnel retinal detachment in the right eye approximately one year after diagnosis. DISCUSSION: This case in conjunction with recent literature suggests that JAG1 variants are likely associated with FEVR. Further investigations are necessary to identify the frequency of JAG1 variants among patients with FEVR. Robust understanding of FEVR's heterogenous genetic profile will lead to improved treatment modalities 20 and patient outcomes.

Concurrent Foveoschisis and Atrophy in a Patient With X-Linked Retinoschisis and Type 1 Diabetes Mellitus.

We report the case of a 28-year-old man with X-linked retinoschisis (XLRS) and type I diabetes mellitus. The patient had bilateral foveoschisis with a tractional retinal fold in the right eye. Optical coherence tomography (OCT) revealed hyperreflective material within the inner nuclear and outer plexiform layers, photoreceptor atrophy, and retinal pigment epithelium irregularities in both eyes. Fluorescein angiography showed hyperfluorescent foveal spots corresponding to the hyperreflective material observed on OCT. This is a unique presentation of XLRS, with concurrent foveoschisis and photoreceptor atrophy in both eyes. The hyperreflective material on OCT serves as a distinctive feature of XLRS. [Ophthalmic Surg Lasers Imaging Retina 2023;54:603-606.].

Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes.

OBJECTIVE: To report the management and outcomes of vitreous hemorrhage in pediatric patients with X-linked retinoschisis (XLRS). MATERIALS AND METHODS: Retrospective case series of pediatric patients with XLRS with vitreous hemorrhage between January 2000 and January 2022 at the Bascom Palmer Eye Institute. RESULTS: Nine patients (12 eyes) met inclusion criteria. The average age at presentation was 5.75 years and mean follow-up time was 6 years. All eyes (58.3%) that underwent fluorescein angiography exhibited peripheral capillary dropout. Six of 12 eyes (50%) were observed without intervention. Four of 12 eyes (33.3%) underwent intravitreal injection of bevacizumab and 2 (16.6%) underwent vitreoretinal surgery. Seven of 12 eyes (58.3%) had documented recurrence of vitreous hemorrhage during follow-up. All retinas were attached and had clear media at final follow-up. CONCLUSION: Fluorescein angiography is a helpful tool to evaluate the vascular phenotype in XLRS. Favorable anatomic outcomes were noted in this cohort, but recurrence of vitreous hemorrhage was common. [Ophthalmic Surg Lasers Imaging Retina 2023;54:513-518.].

Identification of novel biomarkers for retinopathy of prematurity in preterm infants by use of innovative technologies and artificial intelligence.

Retinopathy of prematurity (ROP) is a leading cause of preventable vision loss in preterm infants. While appropriate screening is crucial for early identification and treatment of ROP, current screening guidelines remain limited by inter-examiner variability in screening modalities, absence of local protocol for ROP screening in some settings, a paucity of resources and an increased survival of younger and smaller infants. This review summarizes the advancements and challenges of current innovative technologies, artificial intelligence (AI), and predictive biomarkers for the diagnosis and management of ROP. We provide a contemporary overview of AI-based models for detection of ROP, its severity, progression, and response to treatment. To address the transition from experimental settings to real-world clinical practice, challenges to the clinical implementation of AI for ROP are reviewed and potential solutions are proposed. The use of optical coherence tomography (OCT) and OCT angiography (OCTA) technology is also explored, providing evaluation of subclinical ROP characteristics that are often imperceptible on fundus examination. Furthermore, we explore several potential biomarkers to reduce the need for invasive procedures, to enhance diagnostic accuracy and treatment efficacy. Finally, we emphasize the need of a symbiotic integration of biologic and imaging biomarkers and AI in ROP screening, where the robustness of biomarkers in early disease detection is complemented by the predictive precision of AI algorithms.

Intraoperative OCT Angiography in Pediatric Patients with Persistent Fetal Vasculature.

PURPOSE: To describe abnormalities of the optic nerve microvasculature in patients with persistent fetal vasculature (PFV) and their fellow eyes using OCT angiography (OCTA). DESIGN: Cross-sectional study. SUBJECTS: Fifty eyes of 25 patients with PFV who underwent prospective imaging using supine OCTA during examination under anesthesia at Bascom Palmer Eye Institute from March 1, 2019, to December 31, 2022. METHODS: OCT angiography images of the optic nerve of the included patients were analyzed with a primary focus on blood flow. Demographic, clinical, and treatment factors were compared with morphologic changes in the optic disc microvasculature. MAIN OUTCOME MEASURES: Prevalence of optic nerve microvascular abnormalities on OCTA in the affected and fellow eyes of patients with PFV. RESULTS: A total of 50 eyes from 25 patients were reviewed, and 28% (7/25) met image quality criteria for OCTA analysis. Optic nerve OCTA showed a persistent hyaloid artery (PHA) in all (7/7) PFV eyes analyzed. Of these, flow on OCTA was detectable in 57% (4/7). A Bergmeister papilla was evident in 100% (25/25) fellow eyes, of which flow was detected in 68% (17/25). Fluorescein angiography (FA) demonstrated blood flow within the stalk in 40% (10/25) of PFV eyes and within the Bergmeister papilla in 25% (6/25) of fellow eyes. Similar findings of abnormal blood flow and presence of fibrovascular stalk were seen in both treatment-naïve and treated groups. CONCLUSIONS: OCT angiography allows for high-resolution visualization of subtle vascular abnormalities that are not readily apparent using RetCam FA and may serve as a useful noninvasive test to confirm the patency of the PHA and Bergmeister papilla in children. The results of the present study suggest that PFV may be a bilateral and asymmetric process. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Peripheral Retinal Nonperfusion in Pediatric Patients with Optic Disc Hypoplasia.

PURPOSE: This study aims to report the association of optic nerve hypoplasia (ONH), peripheral retinal nonperfusion, and secondary complications in pediatric patients. DESIGN: Retrospective case series. METHODS: The study was conducted between January 2015 and January 2022 at the Bascom Palmer Eye Institute. Inclusion criteria were clinical diagnosis of optic disc hypoplasia, age <18 years, and a fluorescein angiography (FA) of acceptable quality. RESULTS: Seven patients (11 eyes) met inclusion criteria. Average age at presentation was 3.5 years (range 1 month-8 years) and the mean follow-up time was 34.28 months (range 2-87 months). Four patients (57.14%) showed bilateral optic disc hypoplasia. All eyes exhibited peripheral retina nonperfusion on FA, in which mild severity was found in 7 eyes (63.63%), moderate in 2 eyes (18.18%), severe in 1 eye (9.09%) and extreme in 1 eye (9.09%). Eight eyes (72.72%) showed evidence of 360 degrees of retinal nonperfusion. Two patients (18.18%) were diagnosed with concurrent retinal detachment that were deemed inoperable at the time of diagnosis. All cases were observed without intervention. None of the patients were observed to have complications during follow-up. CONCLUSION: Among pediatric patients with ONH, there appears to be a high rate of concurrent retinal nonperfusion. In these cases, FA is a helpful tool to detect peripheral nonperfusion. Retinal findings are subtle in some cases and may not be detectable in children with suboptimal imaging performed without examination under anesthesia.

Widefield Fluorescein Angiography Findings in Pediatric Patients with X-Linked Retinoschisis.

PURPOSE: To evaluate the retinal vasculature in pediatric patients with X-linked retinoschisis (XLRS). DESIGN: Retrospective consecutive case series. SUBJECTS: Pediatric patients with a diagnosis of XLRS who had undergone widefield fluorescein angiography (FA). METHODS: The electronic medical records of pediatric patients with XLRS at a tertiary referral eye center were reviewed from January 2015 to December 2021. Fluorescein angiography images were reviewed for anomalies of the retinal vasculature. MAIN OUTCOMES MEASURES: Vascular anomalies on FA were recorded, including capillary dropout/ischemia, terminal supernumerary vessels, vascular leakage, abnormal vascular loops, straightening of vessels, aberrant circumferential vessels, and neovascularization. RESULTS: In total, 29 eyes of 15 patients were included in the study (1 patient had a phthisical eye). On FA, the most common findings were capillary dropout/ischemia (21 of 29 eyes, 72.4%), terminal supernumerary vessels (21 eyes, 72.4%), abnormal vascular loops (20 eyes, 69%), and vascular leakage (17 eyes, 58.6%). Of the 17 eyes with leakage, the most posterior zone of involvement was zone 1 in 11 eyes (64.7%) and zone 2 in 6 eyes (35.3%). All eyes demonstrated ≥ 1 vascular anomaly on FA. Among the 29 eyes, 23 (79.3%) demonstrated peripheral bullous schisis or retinal detachment (RD) with a mean of 5.6 clock hours of involvement. The presence of either RD or bullous retinal schisis was associated with the incidence of capillary dropout (91.3% in schisis/RD eyes vs. 0% in nonschisis/RD eyes, P < 0.001). Among those with RD or bullous schisis, a higher degree of involvement correlated with more severe capillary dropout (Pearson 0.49, P = 0.025). CONCLUSION: The present study demonstrates consistent vascular changes in pediatric patients with XLRS using widefield FA. Although the presence of capillary ischemia was associated with the severity of bullous schisis or RD, other vascular anomalies were observed in patients both with and without peripheral schisis. Although further research is needed to understand the etiology of these vascular anomalies, FA should be considered in the evaluation of these patients. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

SURGICAL REMOVAL AFTER IATROGENIC SUBRETINAL INJECTION OF AN INTRAVITREAL DEXAMETHASONE IMPLANT.

PURPOSE: To report a rare case of subretinal migration of an intravitreal dexamethasone implant to treat macular edema secondary to diabetic retinopathy in a vitrectomized eye and the surgical outcome. OBSERVATIONS: A pars plana vitrectomy and a retinotomy were performed to remove the implant and restore vision. CONCLUSION AND IMPORTANCE: Subretinal dislodgement of intravitreal implants is a rare and preventable complication. In the current case, we speculated that this complication might have been related to the injection technique, a possible unrecognized retinal perforation before the injection of the implant, or delayed treatment with the implant. Because a retinal detachment and vitreoretinal proliferation were observed, surgical management was required. Increasing widespread application of any technology may lead to a more significant risk of complications, and ophthalmologists should be aware of this potential risk.

Translaminar Pressure Difference and Ocular Perfusion Pressure in Glaucomatous Eyes with Different Optic Disc Sizes.

PURPOSE: Intracranial pressure (ICP) and ocular perfusion pressure (OPP) are both involved with the pathogenesis of glaucoma. The orbital ICP determines a retrolaminar counter pressure that is antagonistic to the intraocular pressure (IOP). The purpose of this study is to evaluate whether the translaminar pressure difference (TLPD) and the OPP varies in glaucoma patients with different optic disc sizes. METHODS: In this university hospital-based, observational, cross-sectional clinical study, all patients underwent an ophthalmic evaluation. Blood pressure, height, weight, and the results of retinal nerve fiber layer examination with optical coherence tomography examination were recorded. TLPD and OPP were calculated for each patient using proxy algorithms to attain indirect surrogate parameter values. Patients' eyes were stratified into three quantiles according to optic disc sizes and the differences compared. Data from both eyes were used after using the appropriate correction for inter-eye dependency. RESULTS: The sample consisted of 140 eyes of 73 patients with primary open-angle glaucoma and suspects. Patients with large disc size presented with higher TLPD as compared to those with average and small-sized discs (2.4 ± 4.5, 2.8 ± 3.8, and 3.7 ± 4.7 mmHg for first, second, and third tertile, respectively (P < 0.000). OPP did not vary according to the optic disc size. CONCLUSION: Glaucoma patients with larger optic discs have higher TLPD. The pathological significance of this finding warrants further investigation.

Comparison of choroidal thickness in normal eyes and different ocular pathologies in a Brazilian population

Abstract Objective: To evaluate the choroidal thickness (CT) in healthy Brazilian subjects using spectral-domain optical coherence tomography (SD-OCT) and to compare with choroidal thickness measured in Brazilian patients with diabetic macular edema (DME), neovascular age-related macular degeneration (AMD) and high myopia. Methods: A retrospective analysis of spectral domain optical coherence tomography (SD-OCT) images of 181 Brazilian subjects. A total of 74 eyes were included in the normal control group, 50 eyes in the nvAMD group, 44 eyes in the DME group and 13 eyes in the high myopia group. CT was measured from the posterior edge of the retinal pigment epithelium (RPE) to the choroid/sclera junction at the fovea and at 500 μm intervals temporal and nasal to the fovea. All measurements were performed by two independent observers and were averaged for analysis. The statistical analysis and comparison were performed using Mann Whitney (unpaired t-test). Results: Seventy-four eyes from 74 patients with a mean age of 51.4 years were analyzed in the normal group with a mean nasal, subfoveal and temporal choroidal thickness measurements were 301.30 ± 12.86 μm, 311.61 ± 12.62 μm and 309.28 ± 12.28 μm respectively. All groups with disease demonstrated a statistically significant choroidal thinning when compared with matched-aged normal eyes. The mean reduction in the nvAMD group compared to normal were 60.65 μm nasally, 59.77 μm temporally and 56.59 μm at subfoveal position. In the DME group, the subfoveal reduction was 51.10 μm, 63.03 μm and 46.30 μm, nasally and temporally. The patients with high myopia presented the greatest reduction in CT compared to normal eyes, with a mean reduction of 159.9 nasal, 159.98 subfoveal and 154.65 at temporal. Conclusions: The present study evaluated choroidal thickness in Brazilian subjects, with intense miscegenation. The results demonstrated a statistically significant decrease of the choroidal thickness in all subtypes of chorioretinal disease. The small sample size in this study was a limitation. Additional research with a larger study population to better understand these findings.

Resumo Objetivo: Avaliar a espessura da coróide (EC) de indivíduos brasileiros saudáveis utilizando tomografia de coerência ótica do domínio espectral (TCO-DE) e compará-la à espessura da coroide de pacientes brasileiros com edema macular diabético (EMD), degeneração macular neovascular relacionada à idade (DMRI) e miopia alta. Metodologia: Análise retrospectiva de imagens de tomografia de coerência ótica de domínio espectral (TOC-DE) de 181 indivíduos brasileiros. Um total de 74 olhos foram incluídos no grupo controle normal; 50, no grupo DMRI; 44, no grupo EMD; e 13, no grupo com miopia alta. A EC foi medida a partir da borda posterior do epitélio pigmentar da retina (EPR) até a junção coróide/esclera na fóvea e de intervalos de 500 μm, temporal e nasal, à fóvea. Todas as medidas foram realizadas por dois observadores independentes e as médias foram calculadas para análise. A análise estatística e a comparação das ECs foram realizadas usando o teste Mann Whitney (teste t não pareado). Resultados: Setenta e quatro olhos de 74 pacientes com idade média de 51,4 anos foram analisados no grupo normal, o qual apresentou espessura coróide nasal, subfoveal e temporal média igual a 301,30 ± 12,86 µm, 311,61 ± 12,62 µm e 309,28 ± 12,28 µm, respectivamente. Todos os grupos com doença demonstraram afinamento de coroide estatisticamente significativo quando comparados a olhos normais pareados por idade. A redução média de EC no grupo DMRI em comparação ao normal foi de 60,65 μm por via nasal, 59,77 μm por via temporal e 56,59 μm na posição subfoveal. O grupo EMD apresentou redução de EC igual a 51,10 μm em posição subfoveal, 63,03 μm por via nasal e 46,30 μm por via temporal. Pacientes com miopia alta apresentaram a maior redução de EC em relação aos olhos normais; os valores de redução média obtidos foram 159,9 por via nasal, 159,98 em posição subfoveal e 154,65 por via temporal. Conclusões: O presente estudo avaliou a espessura da coróide de indivíduos brasileiros com intensa miscigenação. Os resultados demonstraram reducção estatisticamente significativa da espessura da coróide em todos os subtipos de doença coriorretiniana. O pequeno tamanho da amostra foi uma limitação deste estudo. Pesquisas adicionais com população maior de estudo deveriam ser realizadas para ajudar a entender melhor esses achados.

Validation of an Equation Model to Predict Intracranial Pressure in Clinical Studies.

Objective: There has been an interest regarding the possible role intracranial pressure (ICP) plays in the pathogenesis of the glaucoma optic neuropathy. A major impediment to the understanding of the possible role of ICP on glaucoma is the reliance on alternative noninvasive methods to measure the ICP. A formula was developed to estimate the ICP for the Chinese population. This was cross-sectional, observational study aimed to compare the predicted ICP with the real ICP measured with an aneroid manometer through lumbar puncture in a cohort of 39 subjects. Main points of discussion: The Bland-Altman plot of the differences between the two techniques against their averages revealed that most data points were sited between the two limits of agreement. Conclusion: The results of this study favor the use of the equation as a proxy method to predict ICP and it could be used in clinical studies.