Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease.

PURPOSE: To develop guidelines for ocular surveillance and early intervention for individuals with von Hippel-Lindau (VHL) disease. DESIGN: Systematic review of the literature. PARTICIPANTS: Expert panel of retina specialists and ocular oncologists. METHODS: A consortium of experts on clinical management of all-organ aspects of VHL disease was convened. Working groups with expertise in organ-specific features of VHL disease were tasked with development of evidence-based guidelines for each organ system. The ophthalmology subcommittee formulated questions for consideration and performed a systematic literature review. Evidence was graded for topic quality and relevance and the strength of each recommendation, and guideline recommendations were developed. RESULTS: The quality of evidence was limited, and no controlled clinical trial data were available. Consensus guidelines included: (1) individuals with known or suspected VHL disease should undergo periodic ocular screening (evidence type, III; evidence strength, C; degree of consensus, 2A); (2) patients at risk of VHL disease, including first-degree relatives of patients with known VHL disease, or any patient with single or multifocal retinal hemangioblastomas (RHs), should undergo genetic testing for pathologic VHL disease gene variants as part of an appropriate medical evaluation (III/C/2A); (3) ocular screening should begin within 12 months after birth and continue throughout life (III/C/2A); (4) ocular screening should occur approximately every 6 to 12 months until 30 years of age and then at least yearly thereafter (III/C-D/2A); (5) ocular screening should be performed before a planned pregnancy and every 6 to 12 months during pregnancy (IV/D/2A); (6) ultra-widefield color fundus photography may be helpful in certain circumstances to monitor RHs, and ultra-widefield fluorescein angiography may be helpful in certain circumstances to detect small RHs (IV/D/2A); (7) patients should be managed, whenever possible, by those with subspecialty training, with experience with VHL disease or RHs, or with both and ideally within the context of a multidisciplinary center capable of providing multiorgan surveillance and access to genetic testing (IV/D/2A); (8) extramacular or extrapapillary RHs should be treated promptly (III/C/2A). CONCLUSIONS: Based on available evidence from observational studies, broad agreement was reached for a strategy of lifelong surveillance and early treatment for ocular VHL disease. These guidelines were endorsed by the VHL Alliance and the International Society of Ocular Oncology and were approved by the American Academy of Ophthalmology Board of Trustees. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Outcomes in Retinal Detachment Repair and Laser Prophylaxis for Syndromes with Optically Empty Vitreous.

PURPOSE: To evaluate and compare surgical outcomes for syndromes with optically empty vitreous (SOEV)-associated rhegmatogenous retinal detachments. DESIGN: A retrospective, cross-sectional, 2-arm study of a single pediatric vitreoretinal surgeon's patients from a quaternary referral center with SOEV was performed to examine visual and anatomical outcomes of rhegmatogenous retinal detachment and laser prophylaxis. SUBJECTS: Patients identified either through slit-lamp examination (presence of an optically empty or void space in the vitreous gel structure) or genetic testing. Fifty-six eyes of 49 patients were identified in the retinal detachment arm. Sixty eyes of 48 patients were identified in the laser prophylaxis arm. METHODS: Comparison of initial retinal detachment (RD) surgical repair via pars plana vitrectomy (PPV), scleral buckle (SB), or PPV-SB with final anatomical success, best-corrected visual acuity (BCVA), and number of surgical procedures. Secondary analysis was performed looking at eyes failing their initial SB, eyes with a giant retinal tear at presentation, eyes failing RD repair within specific time intervals, and eyes where hyaloid was elevated during initial vitrectomy. An additional study arm examined the outcomes of final BCVA and the presence and timing of developing a retinal tear or RD in eyes who received laser prophylaxis. MAIN OUTCOME MEASURES: Visual acuity, surgical repair techniques (PPV, SB, PPV-SB), number of surgeries, anatomical retinal reattachment success. RESULTS: Initial SB had statistically significant better final BCVA (P < 0.01) and better final anatomical success (P < 0.01). No statistical difference in the number of surgeries needed to achieve anatomical success between the initial SB versus initial PPV-SB/PPV. Hyaloidal elevation during the initial vitrectomy was associated with improved final BCVA and higher final anatomical success without the use of silicone oil (P < 0.01 and 0.04 respectively). Lastly, eyes that developed RDs after laser prophylaxis had better final BCVA than untreated eyes (P < 0.05). CONCLUSION: Initial SB yields better overall outcomes in SOEV presenting with rhegmatogenous retinal detachment. Stickler Type-1 patients had similar outcomes compared with other SOEV, suggesting both populations should be treated with similar approaches. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

The real-world efficacy and safety of faricimab in neovascular age-related macular degeneration: the TRUCKEE study - 6 month results.

BACKGROUND/OBJECTIVE: Investigate real-world patients receiving faricimab for the treatment of neovascular age-related macular degeneration (nAMD). SUBJECTS/METHODS: Multicenter, retrospective chart review was conducted on patients treated with faricimab for nAMD from February 2022 to September 2022. Collected data includes background demographics, treatment history, best-corrected visual acuity (BCVA), anatomic changes, and adverse events as safety markers. The main outcome measures are changes in BCVA, changes in central subfield thickness (CST) and adverse events. Secondary outcome measures included treatment intervals and presence of retinal fluid. RESULTS: After one injection of faricimab, all eyes (n = 376), previously-treated (n = 337) and treatment-naïve (n = 39) eyes demonstrated a + 1.1 letter (p = 0.035), a + 0.7 letter (p = 0.196) and a + 4.9 letter (p = 0.076) improvement in BCVA, respectively, and a - 31.3 µM (p < 0.001), a - 25.3 µM (p < 0.001) and a - 84.5 µM (p < 0.001) reduction in CST, respectively. After three injections of faricimab, all eyes (n = 94), previously-treated (n = 81) and treatment-naïve (n = 13) eyes demonstrated a + 3.4 letter (p = 0.03), a + 2.7 letter (p = 0.045) and a + 8.1 letter (p = 0.437) improvement in BCVA, and a - 43.4 µM (p < 0.001), a - 38.1 µM (p < 0.001) and a - 80.1 µM (p < 0.204) reduction in CST, respectively. One case of intraocular inflammation was observed after four injections of faricimab and resolved with topical steroids. One case of infectious endophthalmitis was treated with intravitreal antibiotics and resolved. CONCLUSIONS: Faricimab has demonstrated improvement or maintenance of visual acuity for patients with nAMD, along with rapid improvement of anatomical parameters. It has been well-tolerated with low incidence of treatable intraocular inflammation. Future data will continue to investigate faricimab for real-world patients with nAMD.

Typical and atypical clinical presentations of X-Linked retinoschisis: A case series and literature review.

X-linked retinoschisis (XLRS) is an X-linked inherited retinal dystrophy characterized by mild-to-severe visual impairment, splitting of the retinal layers, and a reduction in the dark-adapted b-wave amplitude on the electroretinogram. Typical clinical features include macular and peripheral schisis. Relatively common features reported include rhegmatogenous or tractional retinal detachment, vitreous hemorrhage, retinal pigment epithelial changes, vitreous veils, and various retinal vascular abnormalities with or without exudation. Macular hole and macular folds are atypical presentations of XLRS, along with several other rare findings. Here, we report 4 cases of XLRS with atypical clinical presentations and review the literature on XLRS, with a focus on the variable clinical features of this condition.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.

Cerebellar hypoplasia and dysplasia encompass a group of clinically and genetically heterogeneous disorders frequently associated with neurodevelopmental impairment. The Neuron Navigator 2 (NAV2) gene (MIM: 607,026) encodes a member of the Neuron Navigator protein family, widely expressed within the central nervous system (CNS), and particularly abundant in the developing cerebellum. Evidence across different species supports a pivotal function of NAV2 in cytoskeletal dynamics and neurite outgrowth. Specifically, deficiency of Nav2 in mice leads to cerebellar hypoplasia with abnormal foliation due to impaired axonal outgrowth. However, little is known about the involvement of the NAV2 gene in human disease phenotypes. In this study, we identified a female affected with neurodevelopmental impairment and a complex brain and cardiac malformations in which clinical exome sequencing led to the identification of NAV2 biallelic truncating variants. Through protein expression analysis and cell migration assay in patient-derived fibroblasts, we provide evidence linking NAV2 deficiency to cellular migration deficits. In model organisms, the overall CNS histopathology of the Nav2 hypomorphic mouse revealed developmental anomalies including cerebellar hypoplasia and dysplasia, corpus callosum hypo-dysgenesis, and agenesis of the olfactory bulbs. Lastly, we show that the NAV2 ortholog in Drosophila, sickie (sick) is widely expressed in the fly brain, and sick mutants are mostly lethal with surviving escapers showing neurobehavioral phenotypes. In summary, our results unveil a novel human neurodevelopmental disorder due to genetic loss of NAV2, highlighting a critical conserved role of the NAV2 gene in brain and cerebellar development across species.

Case Series of Progressive Retinal Detachments in Persistent Fetal Vasculature.

PURPOSE: Persistent fetal vasculature (PFV) may be associated with tractional retinal detachment due to tractional contraction of the fibrovascular stalk. PFV is often thought to be congenital and non-progressive. A rhegmatogenous component is far less common and is typically identified as a post-operative complication and has not been spontaneously reported. We present five cases illustrating potential progressive changes and complications that may arise in non-operated PFV. METHODS: A retrospective case series of five patients who presented with progressive retinal detachments from persistent fetal vasculature. RESULTS: Five unique cases of persistent fetal vasculature with significant progression from time of initial presentation, four of which included development of rhegmatogenous components. CONCLUSION: Patients with PFV and a seemingly stable tractional detachment should undergo evaluation with a retina specialist for risk stratification and management, as rhegmatogenous detachments may occur due to ocular growth and stretch breaks, and tractional detachments can continue to progress over time.

Advances in retinopathy of prematurity imaging.

Retinopathy of prematurity (ROP) remains the leading cause of childhood blindness worldwide. Recent advances in ROP imaging have significantly improved our understanding of the pathogenesis and pathophysiological course of ROP including the acute phase, regression, reactivation, and late complications, known as adult ROP. Recent progress includes various contact and noncontact wide-field imaging devices for fundus imaging, smartphone-based fundus photography, wide-field fluorescein angiography, handheld optical coherence tomography (OCT) devices for wide-field en face OCT images, and OCT angiography. Images taken by those devices were incorporated in the recently updated guidelines of ROP, the International Classification of Retinopathy of Prematurity, Third Edition (ICROP3). ROP imaging has also allowed the real-world adoption of telemedicine- and artificial intelligence (AI)-based screening. Recent study demonstrated proof of concept that AI has a high diagnostic performance for the detection of ROP in a real-world screening. Here, we summarize the recent advances in ROP imaging and their application for screening, diagnosis, and management of ROP.

The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti.

PURPOSE: To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease. DESIGN: Multi-institutional consecutive retrospective case series. SUBJECTS: New patients with a diagnosis of IP were seen at the Casey Eye Institute at the Oregon Health and Science University (OHSU), Moran Eye Center, University of Utah, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018. METHODS: Detailed ophthalmoscopic examination and FA were recommended for all new patients and performed on every patient who had parental consent. Ophthalmoscopic findings and FA images were graded for severity by 2 masked graders on a 3-point scale: 0 = no disease, 1 = vascular abnormalities without leakage, 2 = leakage or neovascularization, and 3 = retinal detachment. The presence of known CNS disease was documented. Additional cases were obtained from a pediatric retina listserv for examples of phenotypic variation. MAIN OUTCOME MEASURES: The proportion of eyes noted to have disease on ophthalmoscopy compared with FA and the severity of retinal disease in those with and without known CNS disease. RESULTS: Retinal pathology was detected in 18 of 35 patients (51%) by indirect ophthalmoscopy and 26 of 35 patients (74%) by FA (P = 0.048) in a predominantly pediatric population (median age, 9 months). Ten patients (29%) had known CNS disease at the time of the eye examination. A Wilcoxon rank-sum test indicated that the retinal severity scores for patients with CNS disease (median, 2) were significantly higher than the retinal severity scores for patients without CNS disease (median, 1), z = -2.12, P = 0.034. CONCLUSIONS: Retinal disease is present in the majority of patients with IP, and ophthalmoscopic examination is less sensitive than FA for detection of disease. There may be a correlation between the severity of retinal and CNS disease.

Referable Macular Hemorrhage-A Clinically Meaningful Screening Target in Newborn Infants. Position Statement of the Association of Pediatric Retina Surgeons.

Universal newborn eye screening facilitates early diagnosis of ocular abnormalities and mitigates vision loss. "Referral warranted" eye disease is present at birth in about 5.5% of term infants, with "macular hemorrhage impinging on the fovea" representing about 50% of referral warranted disease. The Association of Pediatric Retina Surgeons held a symposium on February 9, 2021 that culminated in a position statement on "referable macular hemorrhage" (RMH) in newborn infants. RMH is meaningful in that in can cause amblyopia through deprivation, can be readily captured with wide-angle photography in a safe and efficient manner, and may lead to early intervention with mitigation of vision loss. [Ophthalmic Surg Lasers Imaging Retina. 2022;53:3-6.].

Clickable, selective, and cell-permeable activity-based probe of human cathepsin B - Minimalistic approach for enhanced selectivity.

Human cathepsin B is a cysteine-dependent protease whose roles in both normal and diseased cellular states remain yet to be fully delineated. This is primarily due to overlapping substrate specificities and lack of unambiguously annotated physiological functions. In this work, a selective, cell-permeable, clickable and tagless small molecule cathepsin B probe, KDA-1, is developed and kinetically characterized. KDA-1 selectively targets active site Cys25 residue of cathepsin B for labeling and can detect active cellular cathepsin B in proteomes derived from live human MDA-MB-231 breast cancer cells and HEK293 cells. It is anticipated that KDA-1 probe will find suitable applications in functional proteomics involving human cathepsin B enzyme.

Adult retinopathy of prematurity: treatment implications, long term sequelae, and management.

PURPOSE OF REVIEW: Classically, ROP has been considered a neonatal disease only; however, pediatric ophthalmologists and retinal specialists worldwide are recently facing a new paradigm shift. retinopathy of prematurity (ROP) is now considered a lifelong disease that extends well into adulthood. The purpose of this review is to describe the adult ROP anatomy and discuss the late sequelae and management of this disease. RECENT FINDINGS: Neonatal ROP treatments affect both anterior and posterior segment anatomy. Anterior segment changes secondary to inflammation and posterior ciliary nerve ablation range from acute to chronic pathology, including cataract, secondary glaucoma, and corneal decompensation. Persistent avascular retina can be present in previously treated Type 1 ROP eyes after anti-vascular endothelial growth factor or in 'normal' untreated eyes that did not previously meet Type 1 ROP criteria. Persistent avascular retina is associated with lattice-like changes, retinal tears, and detachments. The location and extent of the ridge, posterior hyaloidal contraction and adhesion, and persistent avascular retina all contribute to a spectrum of findings ranging from reactivation of neovascularization, tractional, rhegmatogenous, or exudative detachments. SUMMARY: Understanding Adult ROP anatomy is critical in identification of retinal pathology and treatment choice. ROP patients require lifelong monitoring.

Very late-onset reactivation of retinopathy of prematurity post anti-VEGF bevacizumab treatment for type 1 ROP: a case report.

We report the case of 10-year-old girl who developed retinal neovascularization and vitreous hemorrhage 10 years after successful treatment of type 1 retinopathy of prematurity infant with intravitreal bevacizumab without laser ablation therapy.

Segmental Scleral Buckle Surgical Technique for Repair of a Rhegmatogenous Retinal Detachment in Retinoblastoma: A Case and Review of the Literature.

PURPOSE: The aim of this study was to describe the surgical repair of a rhegmatogenous retinal detachment (RRD) with a posterior break in a child with retinoblastoma (RB). METHODS: Retrospective case report and review of the English language literature. Retrospective review of an 11-month-old male with bilateral retinoblastoma who developed a RRD with a posterior retinal break in his better-seeing eye after treatment with cryotherapy. A review of all published cases to date of RRD in patients with RB is presented. RESULTS: The patient underwent a posterior segmental scleral buckle without subretinal fluid drainage with successful reattachment of the retina and no extraocular extension of RB. CONCLUSIONS: RRDs in RB patients may be successfully repaired with anatomic success and no extraocular tumor extension. Even for patients with a posterior break, a segmental scleral buckle without drainage of subretinal fluid is a viable option and long-term excellent vision is a possible outcome.

80 Years of vision: preventing blindness from retinopathy of prematurity.

Retinopathy of prematurity (ROP) is one of the leading yet preventable causes of childhood blindness worldwide. The purpose of this review is to provide a practical template for observational and treatment methods in order to reduce the overall incidence of any ROP and to improve both short-term and long-term outcomes once Type 1 ROP (treatable ROP) develops.

EXTERNAL DRAINAGE OF SUBRETINAL FLUID DURING RHEGMATOGENOUS RETINAL DETACHMENT REPAIR.

PURPOSE: To describe the safety and efficacy of rhegmatogenous retinal detachment (RRD) repair with external drainage of subretinal fluid using a 28-gauge External Drainage and Depression device (Vortex Surgical, Chesterfield, MO). METHODS: Retrospective review of patients who underwent primary rhegmatogenous retinal detachment repair with scleral buckle, pars plana vitrectomy, or scleral buckle/pars plana vitrectomy using the drainage device from August 2018 through March 2020, performed by four surgeons at two vitreoretinal practices. RESULTS: Eighty-three eyes of 83 patients were included. At presentation, 28% had proliferative vitreoretinopathy. Surgery included 65% scleral buckle/pars plana vitrectomy, 33% pars plana vitrectomy, and 2% scleral buckle. There were no cases of retinal incarceration and two subretinal hemorrhages at the drainage site (both < 2 DD), 2 cases of recurrent RD with proliferative vitreoretinopathy (1 had proliferative vitreoretinopathy at presentation), and 6 (10%) new epiretinal membranes (3 were mild). There were no other complications. Mean follow-up was 274 days. Single operation success rate for those with ≥ 6-month follow-up was 97% (57/59). CONCLUSION: External drainage of subretinal fluid during rhegmatogenous retinal detachment repair demonstrated a favorable safety profile with a high single operation success rate. Further study of the role of external drainage in rhegmatogenous retinal detachment repair is warranted.

OUTER RETINAL INJURY SECONDARY TO MEMBRANE PEELING WITH INTERNAL LIMITING MEMBRANE FORCEPS.

PURPOSE: To present a case of visually significant retinal injury due to internal limiting membrane (ILM) peeling using ILM forceps alone. METHODS: Case report. RESULTS: A 60-year-old woman who underwent ILM peeling for an epiretinal membrane presented with linear central scotomata. Peeling had been initiated and performed with ILM forceps alone, without the use of other surgical instruments. Fundus examination and spectral domain optical coherence tomography imaging confirmed the presence of several discrete areas of inner and outer retinal injury in the macula, which corresponded to her scotomata. CONCLUSION: This is a case of visually significant retinal injury due to ILM peeling that was performed with ILM forceps alone. Improper peeling technique can transmit injurious forces to the retina. Surgeons must be mindful of the biomechanical forces involved in ILM peeling to minimize traction on the retina.

Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes.

PURPOSE: To provide a comprehensive review of the ocular manifestations, outcomes, and genetic findings in patients with Coats-like retinitis pigmentosa (RP). DESIGN: Multicenter, retrospective, nonconsecutive case series. PARTICIPANTS: Patients with a diagnosis of RP demonstrating Coats-like exudative vitreoretinopathy between January 1, 2008, and October 1, 2019. METHODS: Evaluation of ocular findings at RP diagnosis and at time of presentation of Coats-like exudative vitreoretinopathy, pedigree analysis, genetic testing, retinal imaging, and anatomic outcomes after treatment. MAIN OUTCOME MEASURES: Visual acuity, ophthalmoscopy results, OCT results, fluorescein angiography results, and identification of genetic mutations. RESULTS: Nine patients diagnosed with RP and demonstrating Coats-like exudative vitreoretinopathy were included. Median age at time of RP diagnosis was 8 years (range, 1-22 years), and median age at presentation of Coats-like exudative vitreoretinopathy was 18 years (range, 1-41 years). Seven patients were female, and 2 were male. The genetic cause of disease was identified in 6 patients. Three patients demonstrated Coats-like fundus findings at the time of RP diagnosis. Exudative retinal detachment (ERD) localized to the infratemporal periphery was present in all patients, with bilateral disease observed in 7 patients. In all treated patients, focal laser photocoagulation was used to treat leaking telangiectasias and to limit further ERD expansion. Cystoid macular edema refractory to carbonic anhydrase inhibitor therapy and ultimately amenable to treatment with intravitreal anti-vascular endothelial growth factor injection was observed in 4 patients. CONCLUSIONS: Coats-like vitreoretinopathy is present in up to 5% of all RP patients. The term Coats-like RP is used colloquially to describe this disease state, which can present at the time of RP diagnosis or, more commonly, develops late during the clinical course of patients with longstanding RP. Coats-like RP is distinct from Coats disease in that exudative pathologic features occur exclusively in the setting of a coexisting RP diagnosis, is restricted to the infratemporal retina, can affect both eyes, and does not demonstrate a male gender bias. Given the risk of added vision loss posed by exudative vitreoretinopathy in patients with RP, a heightened awareness of this condition is critical in facilitating timely intervention.

Traumatic Retinal Detachment in Patients with Self-Injurious Behavior: An International Multicenter Study.

PURPOSE: To describe the clinical characteristics, surgical outcomes, and management recommendations in patients with traumatic rhegmatogenous retinal detachment (RRD) resulting from self-injurious behavior (SIB). DESIGN: International, multicenter, retrospective, interventional case series. PARTICIPANTS: Patients with SIB from 23 centers with RRD in at least 1 eye. METHODS: Clinical histories, preoperative assessment, surgical details, postoperative management, behavioral intervention, and follow-up examination findings were reviewed. MAIN OUTCOME MEASURES: The rate of single-surgery anatomic success (SSAS) was the primary outcome. Other outcomes included new RRD in formerly attached eyes, final retinal reattachment, and final visual acuity. RESULTS: One hundred seven eyes with RRDs were included from 78 patients. Fifty-four percent of patients had bilateral RRD or phthisis bulbi in the fellow eye at final follow-up. The most common systemic diagnoses were autism spectrum disorder (35.9%) and trisomy 21 (21.8%) and the most common behavior was face hitting (74.4%). The average follow-up time was 3.3 ± 2.8 years, and surgical outcomes for operable eyes were restricted to patients with at least 3 months of follow-up (81 eyes). Primary initial surgeries were vitrectomy alone (33.3%), primary scleral buckle (SB; 26.9%), and vitrectomy with SB (39.7%), and 5 prophylactic SBs were placed. Twenty-three eyes (21.5%) with RRDs were inoperable. The SSAS was 23.1% without tamponade (37.2% if including silicone oil), and final reattachment was attained in 80% (36.3% without silicone oil tamponade). Funnel-configured RRD (P = 0.006) and the presence of grade C proliferative vitreoretinopathy (P = 0.002) correlated with re-detachment. The use of an SB predicted the final attachment rate during the initial surgery (P = 0.005) or at any surgery (P = 0.008. These associations held if restricting to 64 patients with ≥12 months followup. Anatomic reattachment correlated with better visual acuity (P < 0.001). CONCLUSIONS: RRD resulting from SIB poses therapeutic challenges because of limited patient cooperation, bilateral involvement, chronicity, and ongoing trauma in vulnerable and neglected patients. The surgical success rates were some of the lowest in the modern retinal detachment literature. The use of an SB may result in better outcomes, and visual function can be restored in some patients.

Retinal detachment repair with perfluoro-N-octane endotamponade in an infant with juvenile X-linked retinoschisis.

PURPOSE: We present a case of successful surgical management of an infant with X-linked retinoschisis with a giant retinal tear and retinal detachment of the right eye. OBSERVATIONS: A 10-month-old male presented with retinoschisis of both eyes and a retinal detachment of the right eye. The patient underwent two-stage pars plana vitrectomy utilizing perfluoro-N-octane to stabilize the detached retina and facilitate posterior hyaloid separation. Retained perfluoro-N-octane tamponade was later exchanged with silicone oil. The retina remained attached at last follow up. CONCLUSIONS AND IMPORTANCE: Retinal detachment repair in infants presents unique challenges. This is a safe and effective strategy for complex retinal detachment repair in the infant population.

Posterior Segment Characterization in Children With Pierson Syndrome.

BACKGROUND AND OBJECTIVE: Pierson syndrome is a rare genetic disease defined by congenital nephrotic syndrome in association with microcoria. The authors aim to describe the posterior segment and retinal features in Pierson syndrome. PATIENTS AND METHODS: A retrospective chart review of nine patients diagnosed with Pierson syndrome was ascertained. Details of ophthalmic history, ocular examination, retinal imaging, and surgical interventions were obtained during a median duration of 17 months of follow-up (range: 6 to 60 months). Retinal interventions included scatter laser photocoagulation and surgical retinal repair. RESULTS: Sixteen eyes of nine patients were included. The axial length of five eyes with flat retina was 26.59 mm ± 0.99 mm. Highly myopic features including tessellated fundus with accompanying optic disc pallor, unidentifiable cup, and abnormal retinal vascular emanation from the disc were observed in all eyes (100%), whereas 12 eyes (75%) had parapapillary chorioretinal atrophy. Features of abnormal retinal vascularization included avascular peripheral retina on fluorescein angiography, aberrant course of the temporal arcades in 13 eyes (81.3%), and straightened nasal retinal blood vessels in 12 eyes (75%). Tortuous retinal blood vessels were observed in three eyes (18.75%). Surgical repair was performed in five out of seven eyes with rhegmatogenous retinal detachment (RRD). Recurrence was observed in all eyes, which required two to three procedures to achieve final reattachment. CONCLUSIONS: Combined features of high axial myopia with incomplete peripheral vascular maturation characterize the posterior segment in Pierson syndrome. Careful posterior segment examination is essential to detect RRD or retinal neovascularization. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:618-627.].