Superficial and Deep Capillary Plexus Nonperfusion in Nonaccidental Injury on OCTA.

A 5-year-old Caucasian male with a history nonaccidental injury (NAI) at age 1 presented with new onset no light perception in the left eye due to a closed funnel retinal detachment. The right eye showed optic nerve pallor, peripheral vascular attenuation, and leakage. Optical coherence tomography angiography (OCTA) revealed significant parafoveal attenuation of the superficial vascular plexus, intermediate capillary plexus, and the deep capillary plexus. This correlated with inner and middle retinal layer thinning temporal to the fovea and preservation of the ellipsoid zone. The peripapillary vascular plexus was preserved. Laser photocoagulation was performed to the nonperfused peripheral retina and intravitreal bevacizumab was injected. OCTA may be used in patients with NAI to characterize macular ischemia changes. Attenuation of the superficial, intermediate, and deep capillary plexuses in our patient may represent chronic ischemic retinal changes that arise from traumatic injury to the vitreoretinal interface and inner retina in NAI.

Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene.

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by abnormal or incomplete retinal angiogenesis commonly inherited in an autosomal dominant fashion. Up to 50% of FEVR cases are linked to known genetic mutations affecting retinal vasculature development. PURPOSE: To report a case, a novel pathogenic variant of the ZNF408 gene associated with a case of FEVR in a premature male. MATERIALS AND METHODS: Case report. RESULTS: A 10-month-old male who was born prematurely at 34 weeks' gestation in the Dominican Republic was referred for persistent avascular retina. The baby was treated with bilateral intravitreal ranibizumab injections for retinopathy of prematurity (ROP) with the presence of plus disease. Fundus examination several months after treatment revealed the absence of tortuosity of the vessels with avascular periphery; fluorescein angiography (FA) confirmed peripheral avascularity and demonstrated irregular sprouts of vascularization in the absence of neovascularization. We performed genetic testing under the suspicion of FEVR and results identified a heterozygous mutation in the ZNF408 gene on chromosome 11, c.1307 C > T. CONCLUSION: FEVR is an important differential diagnosis in premature infants with retinopathy, as clinical presentation can overlap with common findings in ROP. Maintaining high suspicion for the disease is especially critical in cases with findings unusual for ROP. FEVR in the presence of prematurity has been well described, falling under the proposed term ROPER. Genetic testing is key to confirm diagnosis.

Five-year outcomes after intravitreal bevacizumab of treatment-naive eyes with macular edema secondary to CRVO in routine clinical practice: Results of the Pan-American Collaborative Retina Study (PACORES) group.

PURPOSE: The purpose of this study was to report the 5-year outcomes of treatment-naive eyes with cystoid macular edema secondary to central retinal vein occlusion treated with intravitreal bevacizumab in routine clinical practice. METHODS: We conducted multicenter retrospective non-comparative case series of 102 eyes. The main outcome measured was the change in best-corrected visual acuity (BCVA) at 5 years. Secondary outcomes included the number of injections and the change in CMT at 5 years. RESULTS: At 5 years, the mean BCVA improved from 1.22 ± 0.58 (Snellen 20/428) at baseline to 1.00 ± 0.68 logMAR (Snellen 20/200; p < 0.0001). At 5 years, 48 (47%) eyes had a gain of ≥ 3 lines, 41 (40.2%) eyes remained within 3 lines and 13 (12.7%) eyes had a loss of ≥ 3 lines of BCVA. The CMT improved from 740 ± 243 to 322 ± 179 µm (p < 0.0001). At 5 years, 59 (57.8%) eyes had a completely dry SD-OCT. Patients received a total of 10.6 ± 6.1 (range 6-27) injections. Baseline BCVA (p < 0.0001) and the duration of symptoms prior to initial anti-VEGF injection (p = 0.0274) were the only predictive factors for BCVA at 5 years. CONCLUSIONS: After 5 years with an average of 10.6 injections, there was a mean gain of 0.22 logMAR. In addition, more eyes achieved a BCVA of ≥ 20/40, gained ≥ 3 lines and less patients had a BCVA ≤ 20/200. Eyes with a better baseline BCVA and a shorter duration of symptoms were more likely to achieve better BCVA at 5 years.

Macular Retinal Pigment Epithelial Clumping Leading to a Diagnosis of FEVR.

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by abnormal or incomplete retinal angiogenesis. The peripheral avascularity, irregular neovascularization, and vascular leakage seen in FEVR are similar to changes that may be seen in retinopathy of prematurity (ROP). The authors report a case of atypical macular pigment clumping leading to the diagnosis of ROPER (ie, ROP vs FEVR) in a premature infant born at 23 weeks of gestation with a birth weight of 451 grams, who presented with atypical aggressive posterior ROP and a heterozygous variant in the LRP5 gene. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:505-508.].

Multimodal Imaging Findings in Two Children With Microphthalmos.

Microphthalmos, also called microphthalmia, is a rare developmental disorder of the eye that can be caused by genetic or chromosomal abnormalities or environmental factors. The spectrum of clinical presentation includes nanophthalmia and posterior microphthalmia. It affects approximately one in 1,000 individuals, although there is insufficient literature regarding the clinical and different imaging modalities findings. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:444-446.].

Optical coherence tomography angiography and multimodal imaging in the management of coats' disease.

PURPOSE: To illustrate the spectrum of clinical and imaging features in patients with unilateral Coats' disease at baseline and in response to treatment with laser, intravitreal bevacizumab, and regional steroids. OBSERVATIONS: Telangiectasias, macular exudates, and vascular leakage were present in all 3 patients included in this series. After treatment with laser and bevacizumab, OCT angiography findings included an anomalous foveal vascular loop and chorioretinal anastomoses. Choroidal flow voids appeared to improve after intravitreal bevaziumab and laser treatment in 2 patients with OCT angiography obtained at follow up. A-scan axial lengths in affected eyes were 1.5-1.8 mm smaller than fellow eyes. CONCLUSIONS AND IMPORTANCE: OCT angiography is a non-invasive tool that can be a useful adjunct to multimodal imaging studies in the management of Coats' disease. Improved vascular density following anti-VEGF injection suggests a possible role of the choroidal vasculature in this retinal vascular pathology.

Bilateral maculopathy and cataracts secondary to an accidental high-voltage electrical discharge.

The aim of the study was to describe the ocular findings following an accidental high-voltage electrical discharge. A 32-year-old male suffered an accidental electric discharge of 10,000 volts of direct current. He developed cortical, nuclear, and posterior subcapsular opacities in both the eyes. The retinal examination showed bilateral macular cysts. Four months after the event, the macular cyst in the OD spontaneously regressed without visual improvement. The macular cyst in the OS remained unchanged. High-voltage electrical discharge can lead to bilateral maculopathy and cataracts. The visual prognosis is reserved. The visual acuity may not improve despite macular cyst regression.

Serpiginous Intraretinal Lesions Associated With Familial Exudative Vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder affecting retinal angiogenesis that may present with a wide range of phenotypic characteristics. In this report, the authors describe an atypical presentation of FEVR in a healthy 9-year-old male with progressive decreased visual acuity in the left eye. Fundus examination showed an avascular retina in the temporal periphery bilaterally. The left eye also revealed serpiginous hypopigmented lesions in the superior quadrant, which showed intraretinal location on optical coherence tomography and hyperautofluorescence. Genetic testing revealed LRP5 mutation, confirming a diagnosis of FEVR. The serpiginous lesions represent an unusual finding associated with FEVR not previously described in the literature. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:155-159.].

Widefield Fluorescein Angiography in the Fellow Eyes of Patients with Presumed Unilateral Persistent Fetal Vasculature.

PURPOSE: To examine the retinal vascular findings on widefield fluorescein angiography (FA) in the fellow eyes of patients with unilateral persistent fetal vasculature (PFV). DESIGN: Retrospective case series. PARTICIPANTS: Consecutive patients with unilateral PFV evaluated by a single physician at an academic medical center from February 1, 2011, to November 30, 2018. METHODS: Clinical and demographic information, including age, gender, race, ethnicity, affected eye, subtype, stalk origin, complications on presentation, length of follow-up, and examination findings, was reviewed using the electronic medical record. Fluorescein angiograms of the affected and fellow eyes were reviewed by 2 authors for characteristic retinal vascular abnormalities. Agreement between the authors' scores was analyzed using Cohen's Kappa. MAIN OUTCOME MEASURES: Fluorescein angiography abnormalities, including peripheral vessel avascularity, aberrant circumferential vessels, terminal supernumerary branching, regional capillary dropout, terminal bulbing, abnormal choroidal flush, abnormal vessel straightening, and peripheral vessel leakage or dilation. RESULTS: Inclusion criteria were met by 41 patients. The average age at initial visit was 10.0 months. The average length of follow-up was 36.4 months. Abnormalities on FA were seen in 31 (75.6%) fellow eyes: peripheral vessel avascularity in 27.5 (67.1%), aberrant circumferential vessels in 20 (48.8%), terminal supernumerary branching in 17 (41.5%), regional capillary dropout in 9 (22.0%), terminal bulbing in 6 (14.6%), abnormal choroidal flush in 3.5 (8.5%), and abnormal vessel straightening and peripheral vessel leakage in 2.5 (6.1%). Statistical analysis disclosed an overall observed agreement of 93.4% among the raters (κ = 0.84, P < 0.0001). CONCLUSIONS: Retinal vascular abnormalities seen in patients with unilateral PFV were present in the majority of fellow eyes. This suggests that unilateral PFV may in fact be a bilateral, asymmetric process, but the clinical significance of these subtle findings is not known.

Acute Orbital Compromise after Intra-Arterial Chemotherapy in a Complex Retinoblastoma Associated with 13q Deletion Syndrome.

INTRODUCTION: The intra-arterial chemotherapy (IAC) is increasingly used as a first-line therapy for retinoblastoma. The IAC has proved to be relatively safe. However, many local side effects of IAC have been described. CASE PRESENTATION: This case report describes a local side effect presenting as proptosis and myositis with vascular access difficulty of the middle meningeal artery, in a 2-year-old male with left eye diffuse multifocal stage Vb retinoblastoma complicated with retinal detachment. DISCUSSION/CONCLUSION: IAC is assured to provide as efficient results in eliminating the tumor as the systemic chemotherapy, without causing the systemic side effects. It has become an alternative to systemic chemotherapy. A better understanding of the local side effects is required.

Persistent Retinal Detachment in Retinoblastoma: The Challenges.

INTRODUCTION: Retinoblastoma (RB) is the most common eye tumor in children. There have been significant improvements in treatment options targeting killing the tumor while also conserving the eye and attempting to conserve functional vision. Retinal detachment (RD) is not an uncommon event and compromises the vision and sometimes RB treatment. MATERIALS AND METHODS: Retrospective review of 62 patients over a period of 8 years between 2012 and 2019 with eyes treated for RB and having persistent RD that did not resolve after complete tumor regression. RESULTS: Forty-two patients of these 62 cases developed RD (67%). The RD resolved in 35 patients (83% of RD), and 7 patients (16% of RD) developed a persistent RD. In all the persistent RD groups (7 patients/11 eyes), RB and RD were present simultaneously in the first ophthalmological assessment. Sex ratio was 2 females/5 males. The mean age of diagnosis was 11 months. All eyes had advanced RB stages. Eight eyes had local treatment with transpupillary laser, 6 eyes received IAC, and 3 patients received systemic chemotherapy. In 9 eyes, the RD had both exudative and tractional components. Only one eye had a pure tractional RD due to persistent fetal vasculature, and one eye had rhegmatogenous RD component with presence of a tear in addition to exudation. None of the eyes received RD surgical repair. CONCLUSION: Persistent RD occurs in eyes with advanced RB stages with complex RD with more than one component. The dilemma is performing a vitrectomy in eyes with cancer and poor visual outcome.

Leukocoria in a 2-Year-Old Patient With Atypical Optic Nerve Fiber Layer Myelination.

Myelinated retinal nerve fiber layer is a benign retinal condition that is usually an incidental finding in a healthy patient. Visual acuity is typically not compromised, but some cases have other associated ocular conditions that can affect vision. Diagnosis in challenging atypical cases requires imaging studies to rule out other pathologies. The authors describe the case of a 2-year-old girl who presented with atypical optic nerve fiber myelination. [J Pediatr Ophthalmol Strabismus. 2020;57:e56-e58.].

Complex Combined Tractional and Rhegmatogenous Retinal Detachment in a Twenty-Three-Year-Old Male With Wagner Syndrome.

Wagner syndrome is a rare hereditary vitreoretinopathy that has been reported in only about 300 people worldwide. It is caused by a mutation in the VCAN gene that encodes for the proteoglycan versican, which is a major component of the extracellular matrix of the vitreous gel; retinal detachment is uncommon in these cases. The authors report a case of a 23-year-old male who presented with bilateral combined tractional and rhegmatogenous retinal detachments. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:467-471.].

Bilateral atypical lamellar holes in a patient with oculocutaneous albinism.

BACKGROUND: Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition. MATERIALS AND METHODS: Case report. RESULTS: We present a case of oculocutaneous albinism with bilateral atypical lamellar holes which may represent part of the spectrum of retinal abnormalities in this condition. CONCLUSION: Optical coherence tomography can be helpful in diagnosing albinism. Variable expressivity leads to a range of macular pathology in albinism which may include atypical lamellar holes as described in this patient.

Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases.

Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. We report multimodal imaging of 3 children with large ODC associated with cat eye syndrome, CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and branchio-oculo-facial syndrome.

Vascular endothelial growth factor inhibition and proliferative diabetic retinopathy, a changing treatment paradigm?

Prior to the development of panretinal photocoagulation (PRP) in the 1970s, proliferative diabetic retinopathy (PDR) was the most common cause of blindness in diabetic patients. The diabetic retinopathy study demonstrated that PRP could decrease severe visual loss from PDR by 50%. Since then and for the past four decades, PRP has been the treatment of choice for eyes with PDR. In the past decade, vascular endothelial growth factor (VEGF) inhibition has become the treatment of choice for diabetic macular edema (DME). When treated intensively with anti-VEGF drugs, about one-third of eyes with DME experience an improvement in their diabetic retinopathy severity scale. Randomized clinical trials comparing ranibizumab to PRP and aflibercept to PRP have shown that VEGF inhibitors cause regression of intraocular neovascularization but need to be given on a fairly regular basis. Despite these promising results, concerns about treatment adherence have surfaced. Patients with PDR that are treated solely with anti-VEGF drugs and somehow interrupt their treatment are at a high risk of developing irreversible blindness. Combination treatment of PRP plus an anti-VEGF drug may be the treatment of choice for PDR.

Multimodal Imaging in Diabetic Macular Edema.

Throughout ophthalmic history it has been shown that progress has gone hand in hand with technological breakthroughs. In the past, fluorescein angiography and fundus photographs were the most commonly used imaging modalities in the management of diabetic macular edema (DME). Today, despite the moderate correlation between macular thickness and functional outcomes, spectral domain optical coherence tomography (SD-OCT) has become the DME workhorse in clinical practice. Several SD-OCT biomarkers have been looked at including presence of epiretinal membrane, vitreomacular adhesion, disorganization of the inner retinal layers, central macular thickness, integrity of the ellipsoid layer, and subretinal fluid, among others. Emerging imaging modalities include fundus autofluorescence, macular pigment optical density, fluorescence lifetime imaging ophthalmoscopy, OCT angiography, and adaptive optics. Technological advances in imaging of the posterior segment of the eye have enabled ophthalmologists to develop hypotheses about pathological mechanisms of disease, monitor disease progression, and assess response to treatment. Spectral domain OCT is the most commonly performed imaging modality in the management of DME. However, reliable biomarkers have yet to be identified. Machine learning may provide treatment algorithms based on multimodal imaging.

Intravitreal bevacizumab for diabetic macular oedema: 5-year results of the Pan-American Collaborative Retina Study group.

BACKGROUND/AIMS: To report the long-term anatomical and functional outcomes of patients with centre-involved diabetic macular oedema (DME) treated with intravitreal bevacizumab (IVB). METHODS: Retrospective case series. Patients diagnosed with centre-involved DME that were treated with at least one injection of 1.25 mg IVB and had a minimum follow-up of 60 months. Patients underwent measurement of best-corrected visual acuity (BCVA), ophthalmoscopy, optical coherence tomography and fluorescein angiography at baseline, 6-month, 12-month, 24-month, 36-month, 48-month and 60-month visits. The paired samples t test was used to compare the central macular thickness (CMT) and BCVA with baseline values. Statistical significance was indicated by p<0.05. RESULTS: Two hundred and one consecutive patients (296 eyes) were included. The mean number of IVB injections per eye was 8.4±7.1 (range: 1-47 injections). At 5 years, the BCVA remained stable at 20/100 (logarithm of the minimum angle of resolution=0.7±0.4). Eighty-six (29%) eyes improved ≥2 lines of BCVA, 129 (43.6%) eyes remained stable and 81 (27.4%) eyes lost ≥2 lines of BCVA at 60 months. Mean CMT decreased from 403.5±142.2 µm at baseline to 313.7±117.7 µm over 5 years follow-up (p≤0.0001). CONCLUSIONS: The early visual gains due to IVB were not maintained 5 years after treatment.