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Abstract We conducted a retrospective review of patients (

Purpose: To report 2 cases of presumed retinal hamartoma (RH) in pediatric patients with genetically-confirmed familial adenomatous polyposis (FAP), both evaluated by optical coherence tomography (OCT) and one evaluated with optical coherence tomography angiography (OCTA). Observations: A six-year-old girl presented with occasional blurry vision in the left eye. OCT showed a foveal hyperreflective lesion with disruption of photoreceptors and retinal pigment epithelium (RPE). A nine-year-old female with a past medical history of FAP presented with progressively decreasing vision and floaters in the right eye for the past 6 months. OCT showed a well-demarcated hyperreflective ovoid lesion in the fovea. OCTA revealed no flow signal within the lesion, as well as a second smaller hyperreflective lesion temporal to the fovea. Both patients were diagnosed with presumed retinal hamartoma in the setting of FAP. Conclusions and Importance: Presumed RH can occur in genetically-confirmed, pediatric FAP. On OCTA imaging, these lesions show no intrinsic vascularity. Evaluation with OCT and knowledge of foveal changes in these patients can help identify underlying systemic disease.

Purpose: To describe the clinical findings in an 11-year-old male with a history of hemifacial microsomia presenting with ocular ischemic syndrome secondary to large cerebral aneurysms. Observations: An 11-year-old male with a history of hemifacial microsomia presented to the Bascom Palmer Eye Institute Emergency Department complaining of nausea, diarrhea, headache, and decreased vision in the left eye. Visual acuity was light perception in the left eye and intraocular pressure was within normal limits. Gonioscopy revealed the presence of diffuse neovascularization of the angle. Posterior segment examination revealed mild vitreous hemorrhage, optic disc pallor, preretinal hemorrhage, generalized arteriolar narrowing, retinal microaneurysms, and abnormal arteriovenous communications with branching retinal vessels. Fluorescein angiography demonstrated patchy and delayed choroidal filling, a prolonged venous filling time, arteriolar attenuation, and vascular staining consistent with ocular ischemic syndrome. Magnetic resonance angiography was obtained which revealed large left internal carotid and anterior cerebral artery aneurysms. The patient underwent successful cerebral revascularization via bypass, ligation, clipping, and coiling procedures. At postoperative year 1, there was no evidence of ocular neovascularization and visual acuity remained light perception. Conclusion and Importance: Ocular ischemic syndrome is uncommon in children but may occur with any cause of ocular hypoperfusion. Hemifacial microsomia is a rare congenital disorder of craniofacial development caused by a vascular event in utero affecting the first and second branchial arches. This case demonstrates a rare cause of ocular ischemic syndrome and illustrates the potential for the development of clinically significant vascular abnormalities in patients with disorders of craniofacial development.

Purpose: To report a case of corneoscleral juvenile xanthogranuloma (JXG) with progressive anterior segment involvement refractory to topical steroids. Observations: A 4-month-old male was referred for a new-onset subconjunctival lesion in the right eye. He was found to have a thickened, yellow corneoscleral lesion and hyphema, presumed to be ocular JXG. He was started on topical steroids as empiric treatment, with initial improvement for the first 3 months. Despite remaining on topical steroids, the lesion persisted and was biopsied at age 8 months. Conjunctival, scleral, and aqueous biopsies ruled out uveitic and malignant etiologies and were consistent with JXG with CD68-positive histiocytes, CD3-positive T cells, and CD20-positive B cells. Over the next few months, axial length increased out of proportion to normal growth, and intraocular pressure was elevated despite multiple pressure-lowering drops. At age 11 months, the patient acutely developed a flat anterior chamber with complete keratolenticular and iridocorneal adhesions secondary to a pupillary membrane. The patient improved after undergoing placement of an Ahmed drainage implant, synechiolysis, pars plana lensectomy and vitrectomy, subconjunctival and intravitreal injection of bevacizumab, and intravitreal methotrexate. Conclusions and importance: This is a rare presentation of ocular JXG presenting with diffuse infiltration of the sclera, cornea, and iris. Given the involvement of multiple ocular structures, progression despite initial response to topical steroids, and increased intraocular pressure, aggressive management was required. Lesions should be closely monitored for progression and may benefit from surgical intervention and treatment with intraocular bevacizumab and/or methotrexate if topical steroids are insufficient.

Purpose: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel BCOR variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy. Observations: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the BCOR gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome. Conclusions and importance: This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.

Purpose: To report a case of Axenfeld-Rieger and Stickler Syndrome in a pediatric patient. Observations: A 3-month-old male was referred to the glaucoma clinic after he was noted to have elevated intraocular pressures in both eyes. His family history was notable for infantile glaucoma on his maternal side and retinal detachment on his paternal side. He was found to have anterior segment dysgenesis with iris strands, iridocorneal adhesions, and corectopia, as well as veil-like vitreous in both eyes. He required trabeculotomy, goniotomy, and multiple Baerveldt glaucoma implants in both eyes to achieve intraocular pressure control. Furthermore, the patient later developed macula-involving retinal detachments in both eyes, requiring pars plana vitrectomy with silicone oil tamponade. Genetic analysis confirmed heterozygous pathogenic variants in both the FOXC1 and COL2A1 genes, leading to the concurrent diagnoses of Axenfeld-Rieger and Stickler syndromes. Conclusions and importance: This is a rare case of a patient with concurrent Axenfeld-Rieger and Stickler syndromes. The severity of pathology in both the anterior and posterior segments required a collaborative multidisciplinary approach. In the diagnostic evaluation of congenital eye diseases, if there is strong family history of atypical findings for a given diagnosis, concurrent syndromes should be considered and ruled out. A comprehensive eye genetics panel may be a useful tool in these cases.

Abstract Retinopathy of prematurity (ROP) is a vasoproliferative retinal disease affecting premature infants. In addition to prematurity itself and oxygen treatment, genetic factors have been suggested to predispose to ROP. We aimed to identify potentially pathogenic genes and biological pathways associated with ROP by analyzing variants from whole exome sequencing (WES) data of premature infants. As part of a multicenter ROP cohort study, 100 non-Hispanic Caucasian preterm infants enriched in phenotypic extremes were subjected to WES. Gene-based testing was done on coding nonsynonymous variants. Genes showing enrichment of qualifying variants in severe ROP compared to mild or no ROP from gene-based tests with adjustment for gestational age and birth weight were selected for gene set enrichment analysis (GSEA). Mean BW of included infants with pre-plus, type-1 or type 2 ROP including aggressive posterior ROP (n = 58) and mild or no ROP (n = 42) were 744 g and 995 g, respectively. No single genes reached genome-wide significance that could account for a severe phenotype. GSEA identified two significantly associated pathways (smooth endoplasmic reticulum and vitamin C metabolism) after correction for multiple tests. WES of premature infants revealed potential pathways that may be important in the pathogenesis of ROP and in further genetic studies.

Purpose: 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). Observations: 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. Conclusions and Importance: 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.

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.

Abstract Background To report a case of morning glory disc anomaly (MGDA) in a pediatric patient with prenatal Zika virus (ZIKV) exposure. Case presentation A 3-year-old male with prenatal exposure to ZIKV, confirmed by real-time polymerase chain reaction testing during the second trimester of pregnancy, was evaluated due to visual loss. Physical examination was remarkable for unilateral MGDA. Neuroimaging showed a base of skull encephalocele through the floor of the sella and callosal dysgenesis. Conclusions This is the first report to suggest an association between prenatal ZIKV exposure and MGDA. Prenatal ZIKV exposure may be associated to a wider pathologic spectrum than previously reported.

We report a case of a 42-year-old male with a history of bilateral congenital cataract surgery performed at 2 years of age. The patient was left with aphakia, secondary glaucoma, and a history of diabetic macular edema in the setting of diabetes mellitus type 1. The right eye became prephthisical from his congenital surgical repair, and his left eye presented with an acute pseudo-endophthalmitis developing after the seventh intravitreal injection to treat the macular edema. The eye then presented with decrease in vision, periocular injection, and a diffuse inflammatory reaction focused around the anterior residual lens capsule. The patient underwent surgical removal of the residual capsule and primary vitrectomy repair of the eye, achieving a significant improvement in visual symptoms and recovery of visual and anatomic function.

Purpose: To report the first case of retinal astrocytic hamartoma (RAH) arising in the setting of Familial Exudative Vitreoretinopathy (FEVR). Observations: An otherwise healthy 3-month-old male was clinically diagnosed with Familial Exudative Vitreoretinopathy, with subsequent confirmation of a Frizzled-4 nonsense gene mutation. He was treated with multiple rounds of laser photocoagulation after demonstrated peripheral non-perfusion on fluorescein angiography. At 4 years of age, he was noted to have a solitary retinal astrocytic hamartoma in an area of anterior retinal traction which remains under observation. Conclusions and Importance: This case describes the first reported instance of a retinal astrocytic hamartoma arising in the setting of FEVR. Multiple factors may have contributed to the formation of this benign tumor, including retinal dysgenesis, genetic background, or even laser photocoagulation. More case reports and/or molecular studies are required to further clarify the potential role of these insults in the pathogenesis of RAH.

Purpose: To report a Coats-like exudative vitreoretinopathy in Goldmann-Favre syndrome. Observations: A 64 year-old woman with prior diagnosis of retinal dystrophy presented with decreased vision in the right eye (OD). Ophthalmologic examination was remarkable for bilateral arteriolar attenuation, mid-peripheral bony-spicules, and waxy disc pallor. Coats-like exudative vitreoretinopathy and cystoid macular edema were present OD. Genetic testing showed a homozygous pathogenic mutation in gene NR2E3, variant c.932G>A (p.Arg311Gln), consistent with Goldmann-Favre syndrome. Targeted laser ablation and combination intravitreal therapy were effective in decreasing macular edema. Conclusions and Importance: A Coats-like exudative vitreoretinopathy may occur in the setting of Goldmann-Favre syndrome. Targeted laser ablation in combination with intravitreal therapy can be efficacious in select patients.

Purpose: To present a 22-month-old girl with a complete retinal detachment who was found to have systemic exam findings consistent with neurofibromatosis type 1 during the course of multi-specialty exam under anesthesia. Observations: During examination under anesthesia, ophthalmic exam findings demonstrated retinal detachment with cyst formation, as well as peripheral non-perfusion of the retina in the left eye. Non-ophthalmic findings discovered on difficulty with intubation included a laryngeal plexiform neurofibroma and café-au-lait spots. Conclusions: Pediatric retinal detachments are uncommon compared to those in adults. Pediatric patients with neurofibromatosis type 1 can present with vision loss as the presenting symptom. Systemic signs and symptoms should be carefully screen and monitored.

Purpose: To report a case of vitreous hemorrhage as the presenting sign of retinal cavernous hemangioma (RCH) in a newborn. Observations: 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. Conclusions and importance: 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.

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.

Purpose: MPPC syndrome has been described as a syndrome that presents with chorioretinal coloboma, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma. The purpose of our study is to report three patients who present with a variation of MPPC syndrome who each underwent pars plana vitrectomy, pars plana lensectomy, and amblyopic management. Clinical characteristics, ancillary test findings, and post-surgical functional results are compared to what is reported in the literature. Methods: Retrospective review of medical records of patients who presented with microcornea, persistent fetal vasculature, chorioretinal coloboma, and microphthalmia who underwent surgical correction at Bascom Palmer Eye Institute. Results: 3 patients (6 eyes) were included, two males and one female. All patients were born full term, vaginally, and had no family history of genetic abnormalities affecting the eye. All patients had color fundus images, fluorescein angiography (FA) and echography. Four eyes underwent surgery. Following surgical intervention, patients demonstrated improved visual acuity, and improved functional status. Conclusion and Importance: Patients with microcornea, PFV, chorioretinal coloboma, and microphthalmos, can benefit from surgical intervention when functional decline or media opacities are noted. Though difficult to assess accurate visual acuity and visual improvement pre-operatively and post-operatively, it is evident that our patients demonstrated improvement in functionality and vision following surgical intervention.

Purpose: To present two cases of neonatal endophthalmitis with poor prognosis that were managed with primary evisceration. Observations: Case 1 is a 27-weeks’ gestation neonate who developed Pseudomonas aeruginosa endophthalmitis complicated by globe rupture. Case 2 describes a 34-weeks’ gestation neonate with Serratia marcescens endophthalmitis. Both patients had poor prognosis and thus underwent primary evisceration with good long-term cosmetic outcomes at 15 years and 17 months, respectively. Conclusions and Importance: Primary evisceration should be considered in neonates with endophthalmitis with a poor prognosis and can result in good long-term cosmesis.

Vitreoretinal surgery has advanced extensively from the first days of vitrectomy. During the last decade, new developments in intravitreal pharmacotherapy have created new opportunities to enhance the surgical outcomes of our patients. In this article, we review and discuss some of the supporting evidence of different pharmacotherapies that may be used as an adjunct to vitrectomy for select common etiologies. Triamcinolone acetonide, dexamethasone, and angiogenesis inhibitors are among the most commonly used drugs given their safety profile and proven efficacy. Other pharmaceuticals have also shown promising results in small studies. The adoption of individualized medical treatments prior, during, and after vitrectomy will continue to increase as new evidence supporting the benefit of pharmacotherapy as an adjunct to vitrectomy becomes available.

Purpose: To describe the first reported case of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) associated with a remote choroidal neovascular membrane (CNVM). Observations: A 19-month-old girl with a normal prenatal and infantile history presented with esotropia of the left eye. Fundus examination demonstrated a large, elevated, charcoal-colored lesion in the nasal equatorial retina. There was dragging of the nasal retinal vessels and a retinal fold, presumed to have resulted from nasal traction from the lesion. There was also subretinal hemorrhage in the peripapillary macula. Multimodal imaging demonstrated a peripapillary choroidal neovascular membrane (CNVM) underlying the retinal fold. There was no leakage within the tumor or secondary retinal neovascularization. Examination of the fellow eye was unremarkable. The patient was diagnosed with peripheral CHRRPE with associated peripapillary CNVM. She was treated with serial intravitreal bevacizumab to the affected eye which resulted in a reduction in leakage from the CNVM and resolution of the subretinal hemorrhage. The CHRRPE remained stable on follow-up. Conclusions: Peripheral CHRRPE can rarely be associated with a remote CNVM.

Purpose: to present the now vitrectomy technique through a limbus via preexisting holes in the Eckardt TKP. Methods: the surgical technique performed in a case of four-year-old girl presented with a complete hyphema and vitreous hemorrhage in the left eye. Results: the vitrectomy was performed vial a limbal approach from the TKP without making additional sclerotomies. The vitreous hemorrhage was evacuated, the hyaloid elevated, the periphery examined with an excellent widefield view without scleral depression, an air-fluid exchange performed, and the air exchanged for silicone oil. Finally, the TKP was replaced with a permanent graft. The surgical video was presented additionally. Conclusion and importance: Eckardt TKP allows for a limbal approach in aphakic or non-lens sparing vitrectomy surgery while maintaining a stable intraocular pressure, excellent peripheral and posterior access and while avoiding the need for pars plana sclerotomy placement which can be challenging in complex cases.

Purpose: To report the first use the intravitreal anti-VEGF brolucizumab for the treatment of macular exudates and edema in a patient with Coats’ disease. Observations: A 9-year-old boy was referred with a decrease in vision in the right eye. Visual acuity was 20/400 OD on presentation, and examination was remarkable for peripheral telangiectasias, exudates, microaneurysms, macular edema, and an inferior exudative retinal detachment. A diagnosis of Stage 3A2 Coats’ disease was made, and the patient was treated with intravitreal bevacizumab as well as peripheral diode laser. However, on follow up, there was persistence of subretinal fluid accompanied by a decrease in visual acuity. The patient was then treated with intravitreal brolucizumab. Post injection visual and anatomical improvements were significant with complete resolution of macular edema within two weeks. Throughout the 5 months of follow up, there has been no re-accumulation of fluid and no further required therapy. Conclusions and Importance: Intravitreal brolucizumab was effective for the treatment of retinal edema and exudates in Coats’ disease.

Purpose: Angle closure (AC) is a rare condition in young people. In adults with AC, lens extraction and goniosynechialysis (LE-GSL) are effective in restoring angle anatomy and function. However, the efficacy of LE-GSL is poorly understood in the juvenile population. In this study, we report the efficacy and safety of LE-GSL in a series of young patients with AC. Methods: We reviewed the medical records of consecutive patients with AC. Eyes were included if aged 24 mmHg and (1) less than 180° of visible trabecular meshwork, or (2) any peripheral anterior synechiae noted on gonioscopy, or (3) iridocorneal apposition prior to dilation > 180° identified on anterior segment imaging. Results: A total of 11 eyes (7 patients) were included. The mean ages of diagnosis and LE-GSL were 19.0 and 21.2 years, respectively. Of the 11 eyes, 8 had a history of laser retinal ablation for the treatment of retinopathy of prematurity (ROP, 72.7%). Intraoperatively, 7 eyes received intraocular lens (63.3%), 6 had concurrent vitrectomy (54.5%), and 4 had concurrent endocyclophotocoagulation (36.4%). Following LE-GSL, visual acuity (VA) improved from a mean preoperative LogMAR of 0.88 (20/150 Snellen equivalence) to a mean LogMAR of 0.68 (20/100 Snellen equivalence, P = 0.029). IOP significantly decreased from 18.2 mmHg (Tmax 38.4±12.2 mmHg) preoperatively to a mean of 11.3 mmHg postoperatively (P = 0.009). The number of glaucoma medications was significantly reduced from a mean of 2.4 preoperatively to no medications at final follow-up (mean duration of 13.7 months, P

Purpose: We report two cases of Wyburn-Mason syndrome that illustrate the spectrum of peripheral retinal ischemia seen in this condition. Observations: A 12-year-old female presented with a retinal arteriovenous malformation and sclerotic vessels associated with retinal ischemia on fluorescein angiography, as well as an ipsilateral ophthalmic arteriovenous malformation on magnetic resonance imaging. An 11-year-old male presented with retinal vascular engorgement and tortuosity along with a central retinal vein occlusion and secondary neovascularization. Conclusions and Importance: Retinal ischemia in Wyburn-Mason syndrome is heterogeneous and may be progressive, with secondary complications that result in neovascularization. Furthermore, it is necessary to recognize that this is a systemic condition that requires neurological evaluation.

Purpose: To report 2 cases of pediatric vitreoretinal disease in the setting of Turner's syndrome. Observations: A 4-year-old girl with Turner's syndrome was referred for evaluation of a tractional retinal detachment in the right eye. Fundoscopic examination disclosed temporal dragging of the macula in the right eye, and vascular nonperfusion in the right and left eyes. Genetic testing revealed a novel frameshift mutation in the LRP5 gene consistent with familial exudative vitreoretinopathy (FEVR). The patient was treated with laser. A 14-year-old girl with Turner's syndrome presented with nyctalopia. Dilated fundus exam disclosed peri-foveal pigmentary changes and peripheral bone spicules. Full-field electroretinography demonstrated decreased rod and cone responses, consistent with retinitis pigmentosa (RP). Conclusions and importance: Vitreoretinal disease, including RP and FEVR, is rarely observed in patients with Turner's syndrome.

Purpose: To report a case of asymmetric retinopathy of prematurity (ROP) in a neonate with endophthalmitis. Observations: A 25-week old female was born by caesarean section due to preeclampsia. The patient required supplemental oxygen after birth. The neonatal period was complicated by sepsis secondary to necrotizing enterocolitis with intestinal perforation. The patient subsequently developed endophthalmitis in the right eye. A fungal ball was seen overlying the termination of a persistent hyaloid artery. The patient also had ROP, identified at 31 weeks postconceptional age, which progressed asymmetrically and demonstrated greater severity in the eye affected by endophthalmitis. The endophthalmitis resolved with intravitreal antifungal treatment and systemic therapy. The right eye was also treated with intravitreal bevacizumab, demonstrating regression of ROP severity on follow up. Conclusions and Importance: The present case describes the first reported case of asymmetric ROP associated with endophthalmitis. The more severe ROP occurred in the eye with endophthalmitis suggesting that, outside of systemic factors, the local ocular inflammatory environment is important in determining the progression of ROP. Additionally, the fungal ball present in the eye affected by endophthalmitis was seen at the termination of the hyaloid artery, suggesting the hyaloid artery as the route of entry of the fungus into the vitreous.

Purpose. This case series demonstrate diagnostic features, treatment options, and challenges for Brittle Cornea Syndrome. Observations. Three cases presented with bluish sclera and extremely thin cornea. Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. Case 1 was a 4-year-old boy who developed cataract and glaucoma after undergoing right tectonic penetrating keratoplasty (PK) secondary to a spontaneous corneal rupture. Glaucoma was controlled medically. Later, the kid underwent right transcorneal lensectomy and vitrectomy with synechiolysis. After 6 weeks, he sustained graft dehiscence that was repaired using onlay patch graft. Case 2 was a 7-year-old boy who underwent PK in the right eye, then a pericardial patch graft in the left eye following spontaneous corneal rupture. Glaucoma in both eyes was controlled medically. Case 3 was the 2-year-old sister of the 2nd case. She had a pachymetry of 238 μm OD and 254 μm OS. In the 3 cases, parents were instructed to take protective measures for both eyes and to continue with follow-up visits. Also, they were instructed to have regular screenings for late-onset hearing loss, dental abnormalities, and bone deformities. Conclusions. Long-term follow-up of children diagnosed with Brittle Cornea Syndrome is paramount to minimize the morbidity of corneal rupture and late-onset extraocular conditions.

Purpose. To characterize the clinical features in young patients with angle closure and to determine the characteristics associated with acquired anterior segment abnormality following retinopathy of prematurity (ROP) treatment. Methods. We performed two retrospective case-control series. In the first series, we identified consecutive young angle closure patients without prior surgeries, with and without a history of ROP treatment; in the second series we identified consecutive patients who underwent ROP treatment, without and without anterior segment changes. Results. In the first series, 25 eyes of 14 consecutive angle closure patients were included: 19 eyes (11 patients, 78.6%) had a history of treated ROP, while 6 eyes (3 patients) belonged to full-term patients. The treated ROP eyes had significantly shallower anterior chambers (1.77 ± 0.17 mm vs 2.72 ± 0.18 mm, P

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.

Purpose: To report the clinical features organisms and treatment outcomes in patients with endophthalmitis after penetrating keratoplasty (PK) Methods: Retrospective noncomparative case series. Results: Eleven eyes of 11 patients with culture positive endophthalmitis after PK were included. The time to diagnosis of endophthalmitis from last PK was less than 1 week in 3/11 (27%), between 1 and 4 weeks in 3/11 (27%), and greater than one month in 5/11 (46%) (range 2–924 days). The distribution of isolates included gram positive (GP) 9/11 (82%), gram negative (GN) 1/11 (9%), and fungal 1/11 (9%) species, respectively. Of GP bacteria tested, 9/9 (100%) were sensitive to Vancomycin. Of fungal isolates tested, none (0/1) were sensitive to Amphoteracin, Fluconazole, and/or Voriconazole. Among patients with rim culture data available, 1/7 (14%) donor rims were culture positive for Candida glabrata and 6/7 (86%) were culture negative. Patients were treated with primary tap and inject in 10/11 (91%) and primary vitrectomy in 1/11 (9%). VA of ≥5/200 was present in 2/11 (18%) at time of endophthalmitis diagnosis, and was recorded in 6/11 (55%) at last follow-up. Conclusions and Importance: Patients with endophthalmitis after PK presented at variable time points after surgery. Gram positive organisms were the most common isolate. VA outcomes after treatment were generally poor.

Abstract Background Retinoblastoma is considered the most common intraocular malignancy in childhood, comprising 4% of all pediatric cancers. Management of retinoblastoma has evolved over the past two decades and intra-ophthalmic artery chemotherapy has emerged as a new modality of globe-conserving treatment with excellent results. This treatment achieves effective tumor reduction by delivering localized chemotherapy, decreases enucleation rate, and minimizes systemic and local side effects. Case presentation We report the case of an 8-year-old girl with a late presentation of an advanced unilateral retinoblastoma associated to diffuse exudative retinal detachment in the right eye, classified as group E by the International Classification of Retinoblastoma. The initial therapeutic proposal for the patient was five sessions of intra-ophthalmic artery chemotherapy (IAC) associated to large spot diode laser therapy. After undergoing four sessions of IAC, the fundus exam revealed a giant retinal tear associated to a total retinal detachment in the affected eye. The IAC treatment was concluded and enucleation was considered the best treatment option at that moment, since IAC was unable to control the tumor’s activity and the patient’s eye presented with a complex rhegmatogenous retinal detachment (RRD). However, family left for a second opinion and never returned. Conclusions The usage of IAC for retinoblastoma management may lead to important local complications. Despite rare, RRD secondary to IAC may occur. We postulate that the giant tear observed in this case was caused by the rapid tumor necrosis using this route of treatment.

Purpose: To report use of widefield fluorescein angiography (FA) for targeted therapy of Coats’ disease and familial exudative vitreoretinopathy (FEVR). Study design: Retrospective, noncomparative, consecutive case series. Material and Methods: Patients diagnosed with Coats’ disease or FEVR and evaluated with widefield FA, treated with indirect laser from January 1, 2003 to December 31, 2012. Visual acuity (VA) and anatomic status of eyes was evaluated. Results: 17 eyes were treated for Coats’ disease, and 25 eyes treated for FEVR. Mean VA in the Coats’ group was 20/384 at baseline, and mean VA at the last followup was 20/258. In the FEVR group, mean VA was 20/100 at baseline, and 20/358 at last follow-up. None of the Coats’ eyes required enucleation or additional surgical intervention. Two of the eyes with FEVR required surgery due to advanced disease. Conclusion: Widefield angiographyguided laser therapy in Coats’ disease and FEVR led to visual and anatomic stability in these diseases.

Purpose: We present the first case in the literature of a patient with Kartagener syndrome and ocular findings of nonexudative age-related macular degeneration. Observations: A 55-year-old woman with Kartagener syndrome and chronic angle closure glaucoma presented for evaluation of the retina. Optos ultra-widefield imaging of the fundus showed glaucomatous cupping, drusen, and retinal pigment epithelium changes within the macular region. Humphrey visual field testing confirmed glaucomatous changes. Drusenoid pigment epithelial detachments were observed bilaterally with optical coherence tomography. Conclusions and importance: We hypothesize that in addition to the lungs, spermatozoa and the Fallopian tubes, the retinal pigment epithelium may also be affected by ciliary dysfunction in individuals with Kartagener syndrome. Given recent advances in our knowledge of retinal ciliopathies, further studies are needed to understand how ciliary dysfunction affects the retina in Kartagener syndrome. Keywords: Kartagener syndrome, Macular degeneration, Retinal ciliopathies, Retinal pigment epithelium

Purpose: To describe the first published case of X-linked retinoschisis (XLRS) detachment with retinal vasoproliferative tumor (RVPT) and provide a literature review of the subject. Observations: The authors describe a case of a 17 year old male with X-linked retinoschisis who presented with a retinal detachment and a retinal vasoproliferative tumor. The patient was treated with pars plana vitrectomy, endolaser, subtenon's kenalog and anti-VEGF (vascular endothelial growth factor) intravitreal injections. He regained 20/60 vision with a flat macula and had significant resolution of the associated vasoproliferative leakage seen on fluorescein angiography. Conclusions and importance: This case adds XLRS to the conditions associated with RVPT and gives support for treatment with laser photocoagulation and anti-VEGF therapy with bevacizumab to control the exudative process.

Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history. Both mutations in this patient have not been previously described in the literature. Observations: An 11-year-old girl of Indian descent from a consanguineous family presented to our clinic with poor central visual acuity, recurrent sinopulmonary infections, hypotrichosis, and gradual hearing loss. Fundus examination was significant for atrophic retinal pigmented epithelial (RPE) changes involving both the macula and periphery of both eyes with central foveal hypoautofluorescence. Optical coherence tomography (OCT) demonstrated RPE loss and significant disruption of the ellipsoid layer in both eyes. Full-field electrophysiology tests on initial presentation demonstrated low cone amplitude reduced to C; p. Thr554Pro and DNAH5 c.6688-1G>T. Conclusion: and Importance: We report two novel variants in the CDH3 and DNAH5 genes that are important for future mutational analysis of both HJMD and PCD respectively. A relationship between the cadherin protein dysfunction in CDH3 mutations and the ciliopathy of DNAH5 mutations has not been established. HJMD is known to cause a longitudinal deterioration of cone and rod mediated function, therefore recognizing the symptoms, visual impairment, physical examination, and photographic and electrophysiological findings is crucial in counseling the patient, the family, and fellow clinicians. Keywords: Hypotrichosis with juvenile macular dystrophy, Primary ciliary dyskinesia, Ciliopathy, Retinal pigmented epithelium, Photoreceptors