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

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. To report a case, a novel pathogenic variant of the ZNF408 gene associated with a case of FEVR in a premature male. Case report 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. 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

Retinal Folds as a Clinical Feature of X-Linked Retinoschisis: A Series of Three Cases

BACKGROUND AND OBJECTIVEThe most common clinical features of X-linked retinoschisis (XLRS) include macular schisis in a spoke wheel pattern and peripheral schisis, though other findings such as vitreous veils, vascular attenuation, and subretinal fibrosis have been described. This is the first report to describe retinal folds as a characteristic feature in patients with XLRS. PATIENTS AND METHODSThis was a case series of patients presenting to the retina service at Bascom Palmer Eye Institute with genetically confirmed XLRS. Patients included in this report underwent examination under anesthesia with multimodality imaging. RESULTSThree patients with XLRS were found to have retinal folds, including a newly characterized "retinal scroll" seen on examination and multimodality imaging. CONCLUSIONSThe presence of a retinal fold should yield a differential diagnosis that includes XLRS in the correct clinical context. Panel-based genetic testing and multimodal imaging are useful in guiding clinical management. [Ophthalmic Surg Lasers Imaging 2022;53(6):326-331.]

Case report: Vitreous hemorrhage as the presenting sign of retinal cavernous hemangioma in a newborn

To report a case of vitreous hemorrhage as the presenting sign of retinal cavernous hemangioma (RCH) in a newborn. A five-week-old full-term male with a history of seizures and birth trauma underwent ophthalmology screening. Initial eye examination revealed vitreous hemorrhage. Subsequent examination under anesthesia with multi-modal imaging revealed vitreous hemorrhage and an intra-retinal mass with numerous sac-like aneurysmal dilatations, consistent with RCH. Vitreous hemorrhage in a neonate is an atypical presentation of RCH. Clinicians should be aware that birth trauma may lead to vitreous hemorrhage from RCH. This is the first description of RCH, a rare retinal vascular tumor, in a newborn

Telomere Biology Disorders: Microvascular Abnormalities on Optical Coherence Tomography

Telomere biology disorders (TBDs) are inherited conditions caused by telomere dysfunction, impacting systemic and ocular health. We aim to explore the role of optical coherence tomography angiography (OCTA) in identifying retinal microvascular abnormalities in TBDs. Retrospective case series. The electronic medical records of pediatric patients with TBD at a tertiary referral eye center were reviewed from January 2019 to July 2023. OCTA images were reviewed for anomalies of the retinal vasculature. In total, 13 eyes of 7 patients were included in the study. All patients were genetically confirmed to have TBD. The most common genetic variants were CTC1 (5 patients; 71.4%), ACD (1 patient; 14.3%) and RTEL1 (1 patient; 14.3%). On OCTA, all 13 eyes showed some degree of macular microvascular abnormality in both the SVC and DVC. The most common microvascular abnormality seen in the SVC was blood vessels anastomosis (11; 84.6%), and in the DVC was decreased vessel density (9; 69.2%). OCTA imaging reveals a high prevalence of microvascular abnormalities in patients with TBD, highlighting its potential role in assessing retinal vascular changes associated with the disease

Retinopathy of Prematurity: Advances in the Screening and Treatment of Retinopathy of Prematurity Using a Single Center Approach

To focus on the longitudinal evaluation of high-risk infants for the development of retinopathy of prematurity (ROP) at a single tertiary neonatal intensive care unit (NICU), and to evaluate evolving demographics of ROP and the transition of treatment-warranted disease. Retrospective cohort study. A consecutive retrospective review was performed of all infants screened for ROP between 1990 and 2019 at the Jackson Memorial Hospital neonatal intensive care unit. All inborn infants meeting a birth criteria of <32 weeks’ gestational age (GA) or a birthweight (BW) of 1500 g were included. Longitudinal demographic, diagnostic, and treatment data were reported. Between January 1, 1990, and June 20, 2019, a total of 25,567 examinations were performed and 7436 patients were included. Longitudinal trends over 3 decades demonstrated a decreasing incidence of ROP (P < .05). Although the mean BW and GA increased over 3 decades, patients with ROP demonstrated lower BW and GA over time (P < .05). The prevalence of micro-premature infants (as defined by BW <750 g) continues to rise over time. Micro-preemies demonstrated increasing severity of zone and stage grading, plus disease, and propensity to require treatment (P < .05). The rate of progression of ROP to stage 4 and 5 disease has decreased over time, and there has been an associated increased adoption of intravitreal bevacizumab as primary and salvage therapy. Understanding the evolution of ROP infants and treatment over time is critical in identifying high-risk infants and in reducing the incidence of severe-stage ROP. Micro-prematurity is one of the significant risk factors for treatment-warranted ROP that continues to increase as neonatal care improves. NOTE: Publication of this article is sponsored by the American Ophthalmological Society

CRVO associated with COVID-19 and MTHFR mutation in a 15-year-old male

To report a case of a central retinal vein occlusion (CRVO) associated with COVID-19 in a patient predisposed to clotting due to a genetic mutation in methylenetetrahydrofolate reductase (MTHFR). A 15-year-old male presented with 1 day of painless blurry vision in the left eye. Exam disclosed trace anterior chamber cell, anterior vitreous cell, optic nerve head edema, temporally displaced macular star, dilated tortuous veins, and diffuse intraretinal hemorrhages. Exam and FA was consistent with CRVO, however the macular star and OCT were suggestive of a neuroretinitis. The patient then presented to a children's hospital for further evaluation. A routine screen for COVID-19 via nasopharyngeal swab was positive with a high viral load. He also had a known history of an MTHFR mutation. Extensive laboratory and neuroradiologic evaluation excluded other infectious, inflammatory, and coagulopathic etiologies. This is a case of CRVO associated with COVID-19 infection and an underlying systemic hypercoagulable mutation, with an initial presentation that mimicked neuroretinitis. This case provides valuable diagnostic learning points and expands our knowledge of possible ocular complications of COVID-19. •First case of a retinal vein occlusion associated with COVID-19 and MTHFR mutation.•Anticoagulation and anti-VEGF treatments in retinal vein occlusion.•Diagnostic work-up to exclude neuroretinitis, demyelination, and other etiologies