Revision of Initial Referral Diagnosis following Genotypic Confirmation of Familial Exudative Vitreoretinopathy.

PURPOSE: To describe common referral diagnoses of FEVR (Familial Exudative Vitreoretinopathy) DESIGN: Retrospective case series. SUBJECTS: Patients with phenotypic FEVR evaluated by the pediatric retina service at Bascom Palmer Eye Institute from March 1, 2019 to May 31, 2023. METHODS: A retrospective detailed review of history, imaging, and genetic testing was performed for all patients included in the study. MAIN OUTCOME MEASURES: The primary outcome measures included genetic evaluation, clinical imaging and characteristics. Secondary outcome measures were age and stage of disease at diagnosis. RESULTS: Fifty-five patients with phenotypic and genetically confirmed FEVR were identified. Of these, the initial diagnosis was incorrect upon referral in 33 cases (60%). The referral diagnoses included Coats disease (n =2, 7%), toxoplasmosis (n=2, 7%), retinal detachment (n=6, 18%), persistent fetal vasculature (PFV) (n =5, 15%), suspected inherited retinal disease (n=2, 7%), myopia (n=3, 9%), retinopathy of prematurity (ROP) with preterm gestational age (n=7, 21%), and ROP at moderate to late preterm gestational age (n=6, 18%). The mean age at diagnosis was 8.78 years and 6.42 years for patients with revised diagnosis versus initial diagnosis of FEVR, respectively (p =0.4). There was no correlation between age of diagnosis and stage of disease (p =0.8). CONCLUSIONS: A high index of suspicion for FEVR must be maintained given the heterogeneity of phenotypes. Atypical cases of PFV, Coats disease, and ROP should prompt fluorescein angiography and genetic evaluation.

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.].

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.