Association of Ocular Manifestations of Marfan Syndrome With Cardiovascular Complications.

PURPOSE: To evaluate associations between ocular manifestations of Marfan syndrome and cardiovascular complications. DESIGN: Retrospective cohort study. METHODS: The TriNetX Analytics platform, a federated health research network of aggregated deidentified electronic health record data of more than 119 million patients, was used to identify patients diagnosed with Marfan syndrome. Univariate logistic regression models were used to evaluate the association of ocular manifestations of Marfan syndrome (such as retinal tears/detachment, lens dislocation, and myopia), with cardiovascular comorbidities. Additional sensitivity analyses were performed using propensity matching. Odds ratios and 95% CIs were calculated for incidence of cardiovascular comorbidities (including aortic dissection, valvular disease, and arrhythmias) following diagnosis of Marfan syndrome. RESULTS: A total of 19,105 patients were identified who were diagnosed with Marfan disease without ocular manifestations, and an additional 3887 Marfan patients with ocular comorbidities. Patients who were diagnosed with ocular disease included 883 with ectopic lens, 417 with retinal tear or detachment, 683 with aphakia, 534 with pseudophakia, and 2465 with myopia. Patients with any ocular manifestations of Marfan were significantly more likely to be diagnosed with all cardiovascular comorbidities modeled including aortic aneurysm and dissection (OR 2.035; P < .0001), mitral valve prolapse (OR 2.725; P < .0001), tricuspid valve disorders (OR 2.142; P < .0001), cardiac arrhythmias (OR 1.836; P < .0001), and all cardiovascular outcomes combined (OR 2.194; P < .0001). CONCLUSIONS: In a large and diverse cohort of patients with Marfan syndrome, ocular manifestations of the disorder appear strongly associated with cardiovascular comorbidities.

Inferior oblique myectomy for postoperative limitation of elevation in abduction.

Antielevation syndrome is commonly described following anteriorization of the inferior oblique muscle. A similar phenomenon may occur following inferior oblique muscle recession, creating a distinct strabismus pattern in the setting of cranial trochlear nerve palsy. We report 3 adult patients, 69-72 years of age, who presented at the Stanford Byers Eye Institute with a similar strabismus pattern-limited elevation in abduction following previous inferior oblique muscle recession for congenital/long-standing trochlear nerve palsy. All 3 patients had a small hypertropia in primary gaze with ipsilateral inferior oblique overaction, limited elevation in abduction, and inferotemporal conjunctival scars. Two patients had a V-pattern strabismus. Following myectomy of the previously recessed inferior oblique muscle, elevation in abduction improved, and symptoms resolved in all 3 patients.

Management of vernal keratoconjunctivitis: Navigating a changing treatment landscape.

Vernal keratoconjunctivitis (VKC) is a chronic, progressive, and potentially sight-threatening form of ocular inflammatory disease that primarily affects children and young adults. Prevalence varies by region, ranging from <2 per 10,000 in the United States to as high as 1,100 per 10,000 in parts of Africa. The rarity of VKC in developed countries can make differential diagnosis challenging, and treatment is often delayed until the disease is advanced, and symptoms are significantly impacting patients' quality of life. Although once viewed primarily as an immunoglobulin E-mediated condition, approximately 50% of patients with VKC do not exhibit allergic sensitization. It is now recognized that the immunopathology of VKC involves multiple inflammatory pathways that lead to the signs, symptoms, and conjunctival eosinophilic and fibroproliferative lesions that are a hallmark of the disease. We examine the evolution of our understanding of the immunopathology of VKC, the expanding VKC treatment armamentarium, the clinical implications of emerging treatment approaches, and future directions for VKC research and practice.

Anterior segment ischemia following strabismus surgery in a young adult using gender-affirming estrogen hormone therapy.

Well-known risk factors for anterior segment ischemia (ASI) following strabismus surgery include ipsilateral surgery on three or more rectus muscles, older age, and vasculopathy. ASI is rarely reported in young patients following uneventful strabismus surgery on two ipsilateral rectus muscles. We report a 30-year-old transgender female on long-term estrogen therapy who underwent strabismus surgery involving recessions of both lateral rectus muscles, the right inferior rectus muscle, and the left superior rectus muscle. The left eye developed severe ASI with hypotony maculopathy that was resistant to topical medications, oral steroids, anterior chamber reformation, and intravitreal steroid injection. Following phacoemulsification with intraocular lens and capsular tension ring insertion 1 year later, intraocular pressure and hypotony maculopathy improved.

Real-world evaluation of amblyopic patient characteristics, clinical outcomes, and treatment patterns using the IRIS Registry.

PURPOSE: To characterize the demographics, eye-related comorbidities, clinical characteristics, clinical outcomes, type of amblyopia tests used, and treatment patterns of a large cohort of pediatric, teenage, and adult amblyopic patients from the IRIS (Intelligent Research in Sight) Registry. METHODS: In this retrospective electronic health record analysis, we analyzed 456,818 patients, of whom 197,583 (43.3%) were pediatric patients; 65,308 (14.3%), teenagers; and 193,927 (42.5%), adults. Baseline best-corrected visual acuity examination in both eyes was conducted within 90 days prior to index date. Three age cohorts were analyzed based on age at the index date: pediatric (3-12 years), teen (13-17 years), and adult (18-50 years). RESULTS: At index date, unilateral amblyopia was more common than bilateral amblyopia in all age cohorts (pediatric, 55% vs 45%; teen, 61% vs 39%; adult, 63% vs 37%). In unilateral amblyopic patients, severe amblyopia was more frequent in adults (21%) than in pediatric patients (12%) and teenagers (13%); in bilateral amblyopic patients, severity was comparable in pediatric patients and adults (4% severe in both). The greatest level of visual acuity improvement was demonstrated in pediatric patients with severe unilateral amblyopia at baseline. Pediatric patients showed significant improvement in stereopsis over time at years 1 (P = 0.000033) and 2 (P = 0.000039) at the population level (per χ2 test vs baseline). CONCLUSIONS: Our findings highlight the need for more efficacious amblyopia therapies in older, more severe patients with refractory disease.

Time to Treatment of Pediatric Retinal Detachments: A US Claims-based Analysis.

PURPOSE: To characterize delays in diagnosis and treatment of retinal detachments (RDs) in a pediatric population. DESIGN: Retrospective cohort study using insurance claims data. SUBJECTS: Pediatric patients with RD who underwent repair in the outpatient setting. METHODS: A retrospective analysis of commercially insured patients from a national cohort (IBM MarketScan Research Databases) aged ≤ 18 years with an incident diagnosis of RD between 2007 and 2016. Patients with preceding eye-related visits, time to diagnosis, and time to repair were calculated and compared between patients with pre-existing ocular diagnosis and those without. MAIN OUTCOME MEASURES: The time from diagnosis to specialist consultation, time from diagnosis to repair, time from specialist consultation to repair, number of preceding visits, and presence of previous eye-related diagnosis. RESULTS: Our sample consisted of 826 patients, the majority (77%) of whom were diagnosed with rhegmatogenous RD. Only 40% of patients had at least 1 preceding eye-related visit, and 33% had at least 2 visits before RD diagnosis, with a median time from the last eye-related visit of 32 days (4-197 days) and median time from the second to last visit of 118 days (24-437 days). The median time from RD diagnosis to repair was 2 days (0-9 days). The 323 (37.9%) patients with pre-existing ocular diagnoses more frequently had at least 1 (44% vs. 37%; P = 0.079) or 2 preceding eye-related visits (40% vs. 29%; P = 0.002) compared with those without and also had a shorter time to RD diagnosis (median, 14.5 days vs. 44.5 days; P = 0.011) and repair (1 day vs. 3 days; P = 0.003). CONCLUSIONS: Retinal detachment is an important cause of morbidity in children. This work highlighted how pediatric patients without previous ocular diagnoses and visits with eye care professional may have a delayed diagnosis and repair of their RD. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

Prevalence and Characteristics of Cytomegalovirus Ocular Disease in Children: A Multi-Center Study.

Purpose: The objective of this study was to identify the prevalence of CMV ocular disease in children and to identify associated risk factors for ocular involvement. Design: Retrospective multicenter, cross-sectional study. Methods: Setting: Hospitalized patients screened for CMV viremia by PCR between 2005 and 2018 at four pediatric referral centers. Participants: Seven-hundred and ninety-three children showed CMV viremia (>135 copies/mL by polymerase chain reaction; PCR). Main Outcomes and Measures: (1) Occurrence of ophthalmologic examination. (2) Presence of CMV ocular disease, defined as retinitis, vasculitis, hemorrhage, optic nerve atrophy, or anterior uveitis in the setting of CMV viremia without other identifiable causes. Results: A total of 296/793 (37%) underwent ophthalmologic examination following CMV viremia. A total of23/296 patients (8%) had ocular symptoms prompting evaluation while the rest had eye exams for baseline screening unrelated to CMV viremia. Of these, 13 cases (4% of those with an eye exam) with ocular disease were identified (three congenital CMV, five severe combined immunodeficiency disorder (SCID) status post-stem cell transplantation, three hematologic malignancy status post-stem cell transplantation for two of them, one Evans syndrome status post-stem cell transplantation, and one medulloblastoma status post-bone marrow transplantation). No patients with solid organ transplantation developed CMV ocular disease in our cohort. Conclusion: CMV ocular disease was a rare occurrence in this cohort without an identifiable pattern across sub-groups. Excluding the three congenital CMV cases, nine out of ten patients with CMV ocular disease were status post-stem cell transplantation. We provide integrated screening guidelines based on the best available evidence for this rare condition.

Referral patterns for infantile cataracts in two regions of the United States.

BACKGROUND: Delayed treatment of congenital or infantile cataracts can cause deprivation amblyopia. Prompt diagnosis and surgical intervention is critical for optimal outcomes. This study assessed referral patterns for congenital or infantile cataracts in two regions of the United States. METHODS: The medical records of children 0-1 years of age with congenital or infantile cataracts at Stanford University (2008-2018) and Emory University (2010-2015) were reviewed retrospectively. RESULTS: A total of 111 children were included. Of these, 82 (74%) were initially evaluated by a primary care doctor, of whom 40 (49%) were referred directly to a pediatric cataract surgeon. Of 61 newborns 0-2 months of age, 9 (15%) were initially referred to an eye care provider before 6 weeks of age, but the initial evaluation by a pediatric cataract surgeon was delayed until after 6 weeks of age. Referral patterns were similar between the two institutions (P = 0.06). CONCLUSIONS: Many children with congenital of infantile cataracts are initially referred by a primary care doctor to an eye care provider who does not perform pediatric cataract surgery. Nevertheless, the majority of newborn infants with cataracts were evaluated by a pediatric cataract surgeon before 6 weeks of age.

Outcomes After Corneal Crosslinking for Keratoconus in Children and Young Adults.

PURPOSE: The aim of this study was to assess the effect of corneal crosslinking on vision and keratometry in children and young adults with progressive keratoconus. METHODS: A retrospective medical records review of patients aged 22 years or younger with keratoconus who underwent corneal crosslinking between January 2013 and November 2019 at Byers Eye Institute at Stanford University was conducted. Outcome measures included logarithm of the Minimum Angle of Resolution corrected distance visual acuity (CDVA); keratometry, including maximum keratometry (Kmax); pachymetry; and total wavefront aberration. Measurements were taken at baseline and at 12 and 24 months postoperatively. RESULTS: Fifty-seven eyes of 49 patients aged 12 to 22 years were assessed. The mean preoperative CDVA was logarithm of the Minimum Angle of Resolution 0.38 ± 0.32 (20/48), with a mean postoperative CDVA of 0.29 ± 0.31 (20/39) and 0.31 ± 0.31 (20/41) at 12 and 24 months postoperatively, respectively. Compared with preoperative mean Kmax, there was an improvement of -0.8 diopters (D) to a mean postoperative Kmax of 59.1 ± 9.1 D at 12 months and -1.3 D to 59.7 ± 8.8 D at 24 months. Subanalysis excluding the second eye of patients who underwent bilateral crosslinking showed similar results. Linear mixed modeling showed significant improvement in Kmax at both 12 and 24 months postoperatively. Minimum central corneal thickness initially decreased but stabilized at 24 months after crosslinking. Total wavefront aberration remained stable. CONCLUSIONS: Corneal crosslinking stabilizes, and in some cases improves, visual and corneal parameters in pediatric and young adult patients with keratoconus. The procedure is safe and well-tolerated and may prevent keratoconus progression in young patients.

Social media and vision therapy: Perspectives of providers and patients on Instagram.

PURPOSE: To formally assess the content, intent, and authorship of the most popular Instagram hashtags related to pediatric ophthalmology. METHODS: Public Instagram posts with over 20 likes, using one or more of 6 vision therapy (VT) hashtags and containing English content were identified. A categorical classification system was used to analyze each post for the target audience: post owner, primary intent of post, diagnosis addressed, whether advice was provided, and whether references to studies were provided. RESULTS: A total of 1,766 Instagram posts were analyzed. Half were made by VT clinics or therapists (50%), and only 14 posts were made by physicians (0.8%). The majority were self-promotional. Statistically significant relationships between post owner and intent, post owner and diagnosis, and the provision of advice and diagnosis were found. CONCLUSIONS: Although VT Instagram posts are dominated by self-promotion and advertisements, social media provides an outlet for patients and parents to seek support and information. Ophthalmologists have yet to discuss VT on Instagram.

Prenatal and postnatal inflammation-related risk factors for retinopathy of prematurity.

OBJECTIVE: To evaluate the relationship between prenatal and postnatal inflammation-related risk factors and severe retinopathy of prematurity (ROP). STUDY DESIGN: The study included infants born <30 weeks in California from 2007 to 2011. Multivariable log-binomial regression was used to assess the association between prenatal and postnatal inflammation-related exposures and severe ROP, defined as stage 3-5 or surgery for ROP. RESULTS: Of 14,816 infants, 10.8% developed severe ROP. Though prenatal inflammation-related risk factors were initially associated with severe ROP, after accounting for the effect of these risk factors on gestational age at birth through mediation analysis, the association was non-significant (P = 0.6). Postnatal factors associated with severe ROP included prolonged oxygen exposure, sepsis, intraventricular hemorrhage, and necrotizing enterocolitis. CONCLUSION: Postnatal inflammation-related factors were associated with severe ROP more strongly than prenatal factors. The association between prenatal inflammation-related factors and ROP was explained by earlier gestational age in infants exposed to prenatal inflammation.

Review of Ocular Manifestations of Joubert Syndrome.

Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with a diagnostic "molar tooth" sign observed by magnetic resonance imaging (MRI) of the midbrain. We reviewed the ocular phenotypes that can be found in patients with Joubert syndrome. Ocular motor apraxia is the most frequent (80% of patients), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Although mutations in 34 genes have been found to be associated with Joubert syndrome, retinal degeneration has been reported in only 38% of patients. Mutations in AHI1 and CEP290, genes critical to primary cilia function, have been linked to retinal degeneration. In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations.

Global Practice Patterns in the Management of Infantile Cataracts.

OBJECTIVES: Surveys are an important tool to assess the impact of research on physicians' approach to patient care. This survey was conducted to assess current practice patterns in the management of infantile cataracts in light of the findings of the Infant Aphakia Treatment Study. METHODS: Pediatric ophthalmologists were emailed a link to the survey using newsletters from American Association of Pediatric Ophthalmology and Strabismus, World Society of Pediatric Ophthalmology and Strabismus, and the Pediatric Listserv. The 17-question survey was anonymous and active during July to August 2016. RESULTS: One hundred twenty-five respondents (North America, 65%; Asia, 12%; Europe, 9%; and other, 14%) reported operating on pediatric cataracts. Most practice in a university setting (55%). There was a strong consensus that unilateral cataract surgery should be performed between ages 4 to 6 weeks and aphakic contact lenses should be used to optically correct their eyes, particularly in children ≤6 months of age. For bilateral cataracts, there was a trend for surgeons to perform cataract surgery at an older age than unilateral cataract surgery. Surgeons who performed less than 5 versus greater than 20 pediatric cataract surgeries/year were more likely to use aphakic contact lenses in children undergoing cataract surgery more than 6 months of age (62% vs. 35%, P=0.04). Most respondents (73%) indicated that the Infant Aphakia Treatment Study had changed how they manage unilateral congenital cataracts. CONCLUSION: Most pediatric cataract surgeons perform congenital cataract surgery between ages 4 to 6 weeks and use aphakic contact lenses for initial optical correction in infants less than 6 months. Surgeons have equal preference for intraocular lenses and contact lenses in infants more than 6 months of age.

Treatment of Amblyopia and Amblyopia Risk Factors Based on Current Evidence.

PURPOSE: Amblyopia is a leading cause of low vision and warrants timely management during childhood. We performed a literature review of the management of amblyopia and potential risk factors for amblyopia. METHODS: Literature review of the management of amblyopia and risk factors for amblyopia. RESULTS: Common amblyopia risk factors include anisometropic or high refractive error, strabismus, cataract, and ptosis. Often a conservative approach with spectacles is enough to prevent amblyopia. However, surgery may be necessary to clear the visual axis or align the eyes. CONCLUSION: Amblyopia risk factors should be managed early. Though amblyopia treatment is more likely to be successful at a younger age, those who are older but treatment-naïve may still respond to treatment. Promoting binocular or dichoptic experiences may be the future direction of amblyopia management.

Evaluation and Management of Acute Acquired Comitant Esotropia in Children.

Acute acquired comitant esotropia (AACE) is characterized by a sudden-onset eye misalignment with an equal angle of deviation in all fields of gaze. This form of esotropia is distinct from common forms of childhood esotropia, such as infantile esotropia and accommodative esotropia, in the rapid tempo and typically later timing of onset; further, AACE is distinct from restrictive or paretic strabismus, which usually results in an incomitant angle of deviation that varies with the direction of gaze. The underlying etiologies for AACE are broad but, in some cases, it may be associated with significant neurologic disease. Therefore, the purpose of this article is to examine and summarize the current literature on AACE to provide a framework for the evaluation and management of this form of acquired strabismus.

Effects of Glaucoma Tube Surgery on Corneal Endothelial Cells: A Review.

The etiology of corneal decompensation after aqueous shunt implantation remains poorly understood. With the use of anterior segment optical coherence tomography and specular microscopy, the relationship of these implants to the surrounding tissues can be investigated over time. This article will review the current knowledge pertaining to endothelial cell loss related to glaucoma and surgery and highlight possible causes that have been proposed for endothelial cell loss after aqueous shunt implantation.

Effect of glaucoma tube shunt parameters on cornea endothelial cells in patients with Ahmed valve implants.

PURPOSE: The aim of this study was to assess the effect of various tube parameters on corneal endothelial cell density (ECD) after insertion of Ahmed valves. METHODS: Thirty-nine eyes of 33 patients with previous superotemporal (ST) Ahmed valve implantation and 20 eyes of 13 participants with previous uncomplicated phacoemulsification and intraocular lens implantation but no history of glaucoma surgery were evaluated. Various tube parameters were measured with anterior segment optical coherence tomography. ST, central, and inferonasal (IN) ECD and pachymetry were measured. Endothelial cell loss and corneal thickness in the ST cornea was compared with those in the IN cornea. RESULTS: The mean age of the operated patients was 58 ± 22 years, and the mean time since glaucoma surgery was 2.5 ± 2.6 years. Thirty-two of the 39 study eyes were pseudophakic. The ECD was significantly lower in the ST endothelium than in the IN endothelium in eyes with glaucoma tube surgery (P < 0.001), although this relative reduction in ST ECD was not greater than that seen in pseudophakic control eyes (P = 0.16). In univariate analysis, tube angle relative to the cornea and distance from the tip of the tube to the cornea were significant risk factors for decreased ST endothelial cell loss when assessed relative to the IN ECD (P = 0.01 and P = 0.02, respectively). In multivariate analysis, only the distance of the tube tip to the cornea remained significantly associated with ST endothelial cell loss. CONCLUSIONS: Although this was a retrospective study with inherent limitations, tubes that are closer to the cornea seem to lead to increased loss of adjacent endothelial cells.

Expanding indications for the Boston keratoprosthesis.

PURPOSE OF REVIEW: To review emerging indications for the Boston keratoprosthesis (KPro) and to discuss current research underway to improve clinical outcomes. RECENT FINDINGS: In addition to multiple failed corneal grafts, other ocular conditions for which the Boston KPro has been used include herpetic keratitis, aniridia, autoimmune ocular disorders, and pediatric corneal opacities. In the recent years, the KPro has been implanted for various other conditions and has also been explored as a cost-effective treatment for severe corneal diseases internationally. Cicatricial and inflammatory ocular conditions remain the most difficult cases for KPro use but studies investigating various immunomodulators and biologic materials for improved retention are ongoing. Postoperative management of glaucoma is critical for preserving the visual gains achieved with the Boston KPro. Current studies are evaluating novel devices for intraocular pressure measurement. SUMMARY: Accrued experience with the Boston KPro has demonstrated its versatility but also the difficulties that remain in postoperative management. With many studies underway to improve cost-effectiveness, intra-operative and postoperative management, keratoprostheses will be made increasingly available to those countries most in need.