Retinal detachment, vitreous hemorrhage, and foveal hypoplasia associated with 3q27.1q27.2 microdeletion: a case report.

Terminal deletions of chromosome 3q are associated with a heterogenous clinical phenotype, which includes growth restriction, developmental delay, and intellectual disability. However, little has been published on the ophthalmic impacts of chromosome 3q deletions. We report a 9-year-old boy with a 1.4 megabase deletion of 3q27.1q27.2 whose ocular morbidities included retinal detachment in one eye, vitreous hemorrhage in the other eye, and foveal hypoplasia in both eyes that required acute care and continuous ophthalmologic follow-up.

Automated diagnosis of plus disease in retinopathy of prematurity using quantification of vessels characteristics.

The condition known as Plus disease is distinguished by atypical alterations in the retinal vasculature of neonates born prematurely. It has been demonstrated that the diagnosis of Plus disease is subjective and qualitative in nature. The utilization of quantitative methods and computer-based image analysis to enhance the objectivity of Plus disease diagnosis has been extensively established in the literature. This study presents the development of a computer-based image analysis method aimed at automatically distinguishing Plus images from non-Plus images. The proposed methodology conducts a quantitative analysis of the vascular characteristics linked to Plus disease, thereby aiding physicians in making informed judgments. A collection of 76 posterior retinal images from a diverse group of infants who underwent screening for Retinopathy of Prematurity (ROP) was obtained. A reference standard diagnosis was established as the majority of the labeling performed by three experts in ROP during two separate sessions. The process of segmenting retinal vessels was carried out using a semi-automatic methodology. Computer algorithms were developed to compute the tortuosity, dilation, and density of vessels in various retinal regions as potential discriminative characteristics. A classifier was provided with a set of selected features in order to distinguish between Plus images and non-Plus images. This study included 76 infants (49 [64.5%] boys) with mean birth weight of 1305 ± 427 g and mean gestational age of 29.3 ± 3 weeks. The average level of agreement among experts for the diagnosis of plus disease was found to be 79% with a standard deviation of 5.3%. In terms of intra-expert agreement, the average was 85% with a standard deviation of 3%. Furthermore, the average tortuosity of the five most tortuous vessels was significantly higher in Plus images compared to non-Plus images (p ≤ 0.0001). The curvature values based on points were found to be significantly higher in Plus images compared to non-Plus images (p ≤ 0.0001). The maximum diameter of vessels within a region extending 5-disc diameters away from the border of the optic disc (referred to as 5DD) exhibited a statistically significant increase in Plus images compared to non-Plus images (p ≤ 0.0001). The density of vessels in Plus images was found to be significantly higher compared to non-Plus images (p ≤ 0.0001). The classifier's accuracy in distinguishing between Plus and non-Plus images, as determined through tenfold cross-validation, was found to be 0.86 ± 0.01. This accuracy was observed to be higher than the diagnostic accuracy of one out of three experts when compared to the reference standard. The implemented algorithm in the current study demonstrated a commendable level of accuracy in detecting Plus disease in cases of retinopathy of prematurity, exhibiting comparable performance to that of expert diagnoses. By engaging in an objective analysis of the characteristics of vessels, there exists the possibility of conducting a quantitative assessment of the disease progression's features. The utilization of this automated system has the potential to enhance physicians' ability to diagnose Plus disease, thereby offering valuable contributions to the management of ROP through the integration of traditional ophthalmoscopy and image-based telemedicine methodologies.

Efficacy of Oral Dextrose versus Acetaminophen versus Placebo on Pain Relief during Retinopathy of Prematurity Eye Examinations: A Randomized, Double-Blind Controlled Clinical Trial.

Purpose: To assess the effect of oral dextrose versus acetaminophen versus placebo in pain relief in retinopathy of prematurity (ROP) examination. Methods: In this prospective randomized, double-blind controlled clinical trial study performed in the ophthalmology clinic of Shafa Hospital (referral hospital for eye disease), Kerman, Iran, 105 premature neonates with birth weight ≤2000 g and gestational age between 28 and 34 weeks were studied. Pain score measurement with Premature Infant Pain Profile-Revised (PIPP-R) during ROP examination in three intervention groups, acetaminophen group (15 mg/kg oral acetaminophen), dextrose group (one cc of oral dextrose 50%), and placebo group (one cc of distilled water), was done. Results: Out of 105 infants, 33 infants received acetaminophen drops, 35 infants received dextrose drops, and 37 infants received placebo. The mean pain score of the group receiving acetaminophen was 11.39, dextrose 12.17, and placebo 11.54. The acetaminophen group had a lower average PIPP-R score. This difference was not significant between the three groups (P = 0.38). Conclusions: Acetaminophen and dextrose in comparison with distilled water did not show a significant difference in reducing neonatal pain during ROP examinations. However, the PIPP-R score in the acetaminophen group was lower compared to the other groups.

Chronic ocular small vessel disease: An overview of diabetic retinopathy and its relationship with cardiovascular health.

Diabetic retinopathy (DR) is a potentially blinding disease originating from small vessel damage in the retina in chronic hyperglycemic states. DR has a complex multi-pathway driven pathogenesis resulting in diabetic macular edema and retinal ischemia, the former being the most common cause of vision impairment in DR. Hypoxia induced cytokines stimulate vascular endothelial growth factor (VEGF) production and subsequent angiogenesis with resultant mechanical retinal damage over time. Anti-VEGF therapy is effective for the treatment of center-involving diabetic macular edema. There is evolving evidence showing the effectiveness of anti-VEGF as both adjuvant and monotherapy in the treatment of proliferative DR, however laser photocoagulation continues to remain the standard of care. DR in large cohort studies has been shown to be an independent risk factor for the development of cardiovascular disease and mortality. In addition, changes in retinal vascular caliber ratios may have implications for risk of macrovascular events with a gender discrepancy towards women.

Near-Infrared Confocal Reflectance Scanning Laser Ophthalmoscopy (SLO) and Short-Wavelength Autofluorescence Imaging in Cystic Diabetic Macular Edema.

Objective: To characterize results of short-wavelength autofluorescent (SW-AF) and near-infrared confocal reflectance scanning laser ophthalmoscopy (NIR-cR SLO) imaging in cystic diabetic macular edema (DME). Design: Cross-sectional study. Participants: 104 eyes from 52 naïve treatment patients with DME and mild to moderate nonproliferative diabetic retinopathy (NPDR) Methods: complete ocular examination, best-corrected visual acuity (BCVA), and imaging were performed. Results: In NIR-cR SLO, small/medium and large-sized cysts presented with decreased and increased reflectance, respectively. In SW-AF, increased and decreased autofluorescence, corresponding to medium-/large- and small-sized cysts were noted. Mainly, the lower NIR reflectance was associated with petaloid edema pattern in SW-AF (P=0.011), BCVA (logMAR) (P=0.056), subretinal fluid (P=0.035), and the involved layers of retina by cysts (P < 0.001) in Pearson chi-square test. Fair agreement of 0.31 (P < 0.001) between NIR-cR SLO and late FA leakage was found by the weighted kappa test. In regression analysis, NIR-cR SLO abnormality is highly correlated with outer and inner nuclear layers location of the cystic changes. Conclusions: The size of cysts and involved layers affect presenting features of SW-AF and NIR reflectance.

Flat irregular pigment epithelial detachment over time and outcome of different treatment regimens.

To present long-term visual and structural outcome of treatment in two forms of flat irregular pigment epithelial detachment (FIPED): avascular (aFIPED) and vascularized (vFIPED) in eyes within pachychoroid spectrum. Prospective interventional case series. FIPED were classified into two subgroups; aFIPED and vFIPED based on OCTA. aFIPED underwent PDT, and vFIPED underwent either PDT, IVB, or combination of PDT&IVB. Vision, subretinal or intraretinal fluid, and choroidal biomarkers such as choroidal thickness, area, choroidal vascular index (CVI), and PED area were measured at baseline and last follow-up. Fifteen eyes with aFIPED were followed for a mean of 14.7 ± 10.8 months. Their vision improved, (0.44 ± 0.37-0.33 ± 0.40 LogMAR, p = 0.009) with significant reduction of fluid, choroidal area, thickness, PED area and increase in CVI. Twenty eyes with vFIPED were followed for a mean of 16.5 ± 8.2 months. The same pattern of choroidal alterations without visual improvement was observed in eyes underwent PDT alone. Combination therapy resulted in improvement of vision (0.38 ± 0.10-0.23 ± 0.17 LogMAR, p = 0.006) with reduction of choroidal area and thickness, with an increase in CVI. IVB alone could not change vision or choroidal structure. Single session PDT may lead to sustained visual improvement and structural change in eyes with aFIPED. Combination of PDT and IVB may be a better choice in eyes with vFIPED.

Validation of the Postnatal Growth and Retinopathy of Prematurity (GROP) screening criteria.

Background: Retinopathy of prematurity (ROP) is a leading cause of irreversible blindness in infants. The Postnatal Growth and ROP (G-ROP) study proposed new screening criteria for ROP. This study aimed to validate the G-ROP screening criteria in a group of Iranian premature infants who were treated in the neonatal intensive care unit (NICU) for at least 40 days. Methods: In this retrospective study, we extracted the data pertaining to infants admitted to the NICU from January 2020 to December 2021. We screened all the included infants for ROP based on the Iranian national screening criteria. We applied the G-ROP criteria to our study population, and if no criterion was met, the infant was exempted from ROP screening. We determined the sensitivity and specificity of the G-ROP guidelines for ROP detection, along with its capacity for predicting the requirement for ROP treatment. Moreover, we compared the G-ROP guidelines with the Iranian and North American guidelines for ROP screening. Results: A total of 166 premature infants with complete datasets were included: 130 had ROP, of whom 61 were treated. There were 109 female infants (65.7%). The mean (standard deviation [SD]) birth weight and gestational age were 1080 (256) g and 28.28 (1.97) weeks, respectively. Applying the G-ROP criteria, 127 of 130 infants with ROP were identified (sensitivity, 97.69%; 95% confidence interval [CI], 95.11% - 100%), and of 36 infants without ROP, three were correctly excluded (specificity, 8.33%; 95% CI, 0% - 17.36%). The G-ROP criteria did not fail to identify infants who required treatment for ROP (sensitivity, 100%; 95% CI, 98.29 - 100) and had a specificity of 8.69% (95% CI, 2.04% - 15.34%). Although the Iranian and North American criteria had 100% sensitivity for infants with any stage of ROP, they could not detect infants without ROP (0% specificity). Conclusions: The G-ROP screening criteria had a sensitivity of 100% in identifying infants requiring treatment for ROP in our high-risk group; however, specificity was not sufficiently high. Further studies with larger numbers of referred infants could confirm a decrease in the burden of retinal examinations using these criteria.

Transscleral vs transpupillary diode laser photocoagulation for the treatment of zone II type 1 retinopathy of prematurity: Anatomical and refractive outcomes.

PURPOSE: To compare the anatomical and refractive outcomes of transscleral diode versus transpupillary laser photocoagulation for the treatment of zone II type 1 retinopathy of prematurity (ROP). METHODS: In this prospective comparative interventional case series, infants with type 1 ROP in zone II were assigned to either transpupillary or transscleral laser based on the surgeons' expertise area. The rate of regression, need for retreatment, and structural and biometric outcomes at month 6 were evaluated and compared between the two treatment groups. RESULTS: In total, 209 eyes were enrolled; 145 eyes of 77 infants and 64 eyes of 33 infants and were in transscleral and transpupillary groups, respectively. There was no significant difference in baseline characteristics between the groups. There was no significant difference in retreatment rates (1.6% vs. 3.4%; P = 0.669) and progression to stage 4 (1.6% vs. 2.8%; P = 0.999) between the transpupillary and transscleral groups, respectively. At month 6, the mean spherical equivalent was 0.31 ± 3.57 and 0.44 ± 2.85 diopters, and the axial length was 18.28 ± 6.22 and 18.36 ± 6.87 mm in the transpupillary and transscleral groups, respectively, without a significant difference between groups. There was no significant difference in the rate of myopia (43.8% vs. 33.8%; P = 0.169) and high myopia (4.7% vs. 4.8%; P = 0.965) in transpupillary and transscleral groups at month 6. CONCLUSION: The transpupillary and transscleral laser photocoagulation routes are both effective in the treatment of zone II type 1 ROP and show no significant differences in anatomical or refractive outcomes in relation to the route chosen.

Exacerbation of pigment epithelial detachment following aflibercept: A case of bevacizumab rescue.

PURPOSE: We describe a 61-year-old female patient with a retinal pigment epithelial detachment (PED) of the left eye in the setting of neovascular aged-macular degeneration (nAMD) with unanticipated responses to aflibercept and bevacizumab. OBSERVATIONS: A reduction of PED size from 423 µm to 309 µm and vision improvement (20/150- to 20/40) were observed after five consecutive monthly injections of bevacizumab. A switch to aflibercept for the following two consecutive months showed an unanticipated incremental decline in vision (20/80- at month 1, 20/150- at month 2), increased PED size (749 µm), and the development of subretinal fluid (SRF). After a switch back to bevacizumab, the subretinal fluid resolved. After nine consecutive monthly injections of bevacizumab, final vision in the left eye was 20/25, and final PED height was 84 µm. CONCLUSIONS: Different anti-VEGFs may induce varied and unpredictable responses among the most recalcitrant cases of nAMD. Unpredictably, PED size in our patient worsened with aflibercept treatment. IMPORTANCE: Treatment for nAMD with large PEDs has poor level 1 evidence for guidance, and customized treatment should be considered.

Bilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.

Deletion of the 26q position on chromosome 10 results in a syndrome with well-documented systemic phenotypes. There are few reports of ophthalmic manifestations in terminal 10q26 deletion. We report a 4-week-old boy with terminal 10q26 deletion who had extensive ophthalmic abnormalities, including bilateral anterior segment dysgenesis and bilateral persistent fetal vasculature, with microphthalmia, microcornea, iris corectopia, congenital cataracts, and posterior embryotoxon.

Effect of pattern scanning laser on macular thickness in diabetic retinopathy.

PURPOSE: This study investigates the effect of pattern scanning laser (PASCAL) panretinal photocoagulation (PRP) on central macular thickness (CMT) and visual acuity (VA) in patients with proliferative diabetic retinopathy (PDR). METHODS: This retrospective non-randomized comparative case series included 262 eyes (163 with macular edema) of 177 patients with PDR. Treatment was PRP alone (137), PRP + anti-vascular endothelial growth factor (VEGF) (69), PRP + focal laser (28), or all three (89). CMT and central macular volume 3 and 6 mm from fovea were analyzed before and 1, 3, and 6 months after PRP. Spot number was plotted against CMT, and linear regression analysis was performed. RESULTS: For each treatment group and time point, there was a non-significant relationship between spot number and CMT. In eyes receiving all three treatment modalities, a significant negative relationship was found between spot number and 3-mm volume at 6 months (p = 0.04) and 6-mm volume at 1 month (p = 0.002) and 6 months (p = 0.011). There was no significant change in VA in any treatment group at the 6-month time point. CONCLUSION: PASCAL PRP ± focal laser or anti-VEGF was not associated with increased development of macular edema or change in VA. PASCAL PRP with focal laser and anti-VEGF may result in a decrease in macular edema.

The Vitreous Ecosystem in Diabetic Retinopathy: Insight into the Patho-Mechanisms of Disease.

Diabetic retinopathy is one of the leading causes of blindness in the world with the incidence of disease ever-increasing worldwide. The vitreous humor represents an extensive and complex interactive arena for cytokines in the diabetic eye. In recent decades, there has been significant progress in understanding this environment and its implications in disease pathophysiology. In this review, we investigate the vitreous ecosystem in diabetic retinopathy at the molecular level. Areas of concentration include: the current level of knowledge of growth factors, cytokine and chemokine mediators, and lipid-derived metabolites in the vitreous. We discuss the molecular patho-mechanisms of diabetic retinopathy based upon current vitreous research.

Peripheral Retinal Neovascularization in a Patient with Sarcoidosis and Cocaine-Associated Autoimmunity.

A 63-year-old African-American female with history of sarcoidosis (lymph node biopsy proven) and cocaine abuse for 8 years was referred to us because of new floater. Her ocular history was unremarkable except for vague complaints of visual disturbance during a hospital admission in 2016. On presentation, her visual acuity was 20/400 in the right eye and 20/30 in the left eye. Dilated fundus exam and multimodal imaging showed thick epiretinal membrane (ERM) superior to optic nerve head causing a lamellar macular hole and intra retinal edema in the right eye, a full thickness macular hole, and peripheral neovascularization in the left eye. Peripheral vasculitis was appreciated in both eyes and peripheral neovascularization in the left eye on fluorescein angiography. The patient underwent laser therapy, and the new vessels regressed in the left eye without any changes in systemic medications. Multiple factors may contribute to retinal vasculitis and neovascularization including sarcoidosis, cocaine abuse, and other undiagnosed systemic vasculitis, which makes this case a mystery.

Ocular complications following intravitreal bevacizumab injection for retinopathy of prematurity and assessment of risk factors.

PURPOSE: Laser ablation of the avascular peripheral retina has been the standard method of ROP treatment. Intravitreal anti-VEGF is useful in the management of ROP patients, especially for aggressive posterior ROP. However, ocular and systemic complication after intravitreal bevacizumab was the main concern. This study aimed to investigate the treatment-related ocular and systemic complications of intravitreal bevacizumab (IVB) in patients with retinopathy of prematurity (ROP). METHOD: This retrospective study included neonates receiving intravitreal injections of bevacizumab (IVB) (0.625 mg) to treat ROP. Medical records of the patients were evaluated about the ocular complications after receiving IVB from 2012 to 2019. Treatment-related complications (vitreous hemorrhage, glaucoma, cataract, hyphema, corneal abrasion/opacity, and endophthalmitis), and disease-progression signs including retinal fold or stage 4 or 5 detachment were documented. Any reports of systemic events after injections were also recorded. RESULT: Mean gestational age and birth weight of 441 patients receiving IVB for type-1 ROP were 28 ± 2 (22-34 weeks) and 1121 ± 312 (550-2700 g), respectively. The median follow-up after treatment in all patients and patients with complications was 289.43 ± 257 days (5-1899 days) and 385.89 ± 311.59 (196-1192) days, respectively. Out of 865 eyes, 20 eyes (2.31%, 95% Clopper-Pearson Confidence Interval: 1.14-3.54%) have been affected by ocular complications. The rates of different complications included progression of retinopathy in 17 eyes (1.96%), cataracts in 2 eyes (0.23%), and vitreous hemorrhage in one eye (0.11%). No cases of endophthalmitis, thromboembolic events, or death occurred in this study. We evaluated the prevalence ratio (PR) on the multiple risk factors to determine the prediction of the complications. The existence of neovascularization of iris has the highest susceptibility to predict the complication (PR = 5.091, P-value 0.014) following by the presence of retinopathy in zone 1 of the infant's retina (PR = 4.386, P-value = 0.010). CONCLUSION: The incidence rate of complications related to Intravitreal bevacizumab injection was low, which was compatible with previous studies. Bevacizumab injection seems well tolerated in most cases of ROP. Iris neovascularization and the presence of retinopathy in zone 1 were associated with a higher occurrence of complications than the absence of these risk factors.