Search

Purpose: The Philadelphia Eagle Eye Mobile (EEM) provides optometric vision care to children who fail a vision screening performed by nurses at schools in low-income areas. Methods: Data for children seen on the EEM between 2006 and 2008 for whom school nurse feedback was available regarding glasses wear at 1-, 4-, and 12-month intervals served as the study population. Optometric findings and glasses prescriptions at initial examination were recorded in the EEM database. The ophthalmic records for children referred for pediatric ophthalmology consultation at our institution were reviewed and those who did not attend were counted. Results: A random subset of 689 students at 28 different schools at which follow-up forms were distributed to the school nurses regarding glasses wear was studied. This represents 10.8% of 6,365 children screened at 131 public schools visited by the EEM during that period. False-positive rates of school nurse screening averaged 16.11% (0% to 44%) for 689 children from 28 schools. Glasses compliance was 71% at 12 months and correlated to higher prescriptions. Only 53% of children attended their pediatric ophthalmology referral. Conclusions: Nurse training to reduce false-positive screening and strategies to improve attendance at arranged pediatric ophthalmologist consultations are recommended. The EEM effectively gets glasses to students where needed and use rates are satisfactory. [ J Pediatr Ophthalmol Strabismus. 2015;52(2):98–105.]

Axenfeld–Rieger spectrum (ARS) includes the anterior segment abnormalities posterior embryotoxon, irido-corneal adhesions, corectopia, and other abnormalities of pupil size and shape. Glaucoma occurs in approximately 50% of affected children. It is often caused by mutations of FOXC1 or PITX2. Timing of expression and dosage of these transcription factors appear to be very critical in the development of the anterior segment. We report on one child with a deletion and another with a duplication involving 6p25, causing an anirdia-like phenotype. Classic anirdia is a pan-ophthalmic disorder caused by heterozygous mutations involving the paired homeobox gene PAX6 at 11p13. It is often associated with optic nerve hypoplasia, foveal hypoplasia, corneal pannus, nystagmus, and cataract. Microdeletion of 11p13 may be associated with life threatening Wilms tumor. Distinguishing these two syndromes has critical implications for prognosis and treatment. We demonstrate how chromosomal microarray can be instrumental in differentiating these phenotypes. © 2015 Wiley Periodicals, Inc.

Cystoid macular edema (CME) and non-leaking intraretinal cystoid spaces (ICS) have different pathophysiologic mechanisms.We report a patient with retinitis pigmentosa (RP) with ICS due to a mutation in the male germ cell-associated kinase (MAK) gene.A 41-year-old Ashkenazi Jewish male was referred for abnormal visual field revealed by regular optometric examination. His visual acuity was 20/20 in each eye. Dilated examination revealed typical finding of RP. Optical coherence tomography showed cystoid changes in each fovea. Photoreceptors were also degenerated. Intravenous fluorescein angiography showed no leakage. Genetic testing identified a homozygous mutation in the MAK gene: a 353-bp Alu insertion (K429insAlu).Mak regulates microtubule stability via phosphorylating RP1. Abnormal Mak may impact retinal photoreceptor ciliary length and subcompartmentalization. Mak is required for the survival of photoreceptors in mice. ICS has been reported in other ciliopathies. We report the first case of ICS due to mutation in MAK.

Purpose: Mutations in the ABCA4 gene result in a broad spectrum of severe retinal degeneration, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive retinitis pigmentosa, and cone-rod dystrophy. In addition to the detection of well-characterized mutations, genetic testing frequently yields novel variants of unknown significance. The purpose of this report is to describe an approach to aid in the assessment of genetic variants of unknown significance. Case report: We report an 11-year-old girl with Stargardt disease harboring novel compound heterozygous deletions of ABCA4 (c.850_857delATTCAAGA and c.6184_6187delGTCT). The pathogenicity of these variants was otherwise unknown. Both deletions introduce premature stop codons and are localized within the open reading frame of ABCA4. The c.850_857delATTCAAGA occurs early in the gene and leads to a significantly truncated protein of only 317 amino acids. The c.6184_6187delGTCT, is localized to the 3’ terminus of the ORF and results in removal of the last 161 out of 2,273 amino acids of ABCA4, including the VFVNFA motif, which has been shown to be critical in ABCA4 protein function. Homology-based protein modeling of ABCA4 harboring this deletion suggests significant alterations in the protein structure and function. Conclusions: Our analyses allowed us to classify novel variants in ABCA4 as being clearly loss-of-function mutations, and thus pathogenic variants. In cases of variants of unknown significance, appraising the protein structure-function consequences of genetic mutations using in silico tools may help to predict the clinical importance of variants of uncertain pathogenicity.

Ophthalmic manifestations of child abuse can be seen in the form of physical abuse, neglect and noncompliance, sexual abuse, and emotional abuse. This chapter reviews these forms of abuse and their ocular manifestations. Ophthalmologists are a key component of the multidisciplinary team and may be the first to recognize abuse and neglect or act as consultants describing the ocular findings and their forensic significance.

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology. info:eu-repo/semantics/publishedVersion

Chromosomal aberrations affect the functionality of certain genes and/or their regulatory elements, leading to congenital anomalies. Congenital ocular and oculofacial anomalies are frequent in this group of patients. This chapter describes the ocular and systemic anomalies resulting from isolated aberrations of chromosome number or structure involving a single chromosome, as detected by karyotype, fluorescence in situ hybridization or chromosomal microarray.

An understanding of normal structural and functional development of the eye and adnexa assists in the identification of abnormal departures reflecting disease processes. Normal data for visual acuity, refractive error, and globe size are presented along with specifications for the anatomic development of the cornea, anterior chamber, iris, lens, ciliary body, vitreous, retina, sclera, optic nerve and sheath, vasculature, extraocular muscles, eyelids, orbit and sinuses. Normal values for intraocular pressure and visual fields are also discussed.

Purpose of review To discuss the risks, benefits and value of genetic testing for ocular genetic disease. Recent findings Testing for ocular genetics diseases is becoming more available and successful gene therapy is being reported. Clinicians must prepare for this trend by considering diagnostic genetic testing for their patients. Summary As advances continually occur in genetic testing for ocular genetic disorders, clinicians must develop an understanding of the potential risks and benefits for their patients.

Importance Cataract surgery is the most commonly performed intraocular surgery. Academic centers have mandates to train the next surgeon generation, but resident roles are often hidden in the consent process. Objective To investigate associations of full preoperative disclosure of the resident role with patient consent rates and subjective experience of the consent process. Design, Setting, and Participants Full scripted disclosure of residents’ roles in cataract surgery was delivered by the attending surgeon. Qualitative analysis was conducted from recorded interviews of patients postoperatively regarding consent process experience and choice of whether to allow resident participation. Associations were sought regarding demographic characteristics and consent rates. Patients were recruited though a private community office. Surgery was performed at a single hospital where resident training was routinely conducted. The study included systemically well patients older than 18 years with surgical cataract. They had no previous eye surgery, English fluency, and ability to engage in informed consent decision-making and postsurgery interview. Patients were ineligible if they had monocular cataracts, required additional simultaneous procedures, had history of ocular trauma, or had cataracts that were surgically technically challenging beyond the usual resident skill level. Interventions Eligible patients received an informed consent conversation by the attending physician in accordance with a script describing projected resident involvement in their cataract surgery. Postoperatively, patients were interviewed and responses were analyzed with a quantitative and thematic qualitative approach. Main Outcomes and Measures Consent rates to resident participation and qualitative experience of full disclosure process. Results Ninety-six patients participated. Participants were between ages 50 and 88 years, 53 were men (55.2%), and 75 were white (85.2%). A total of 54 of 96 participants (56.3%; 95% CI, 45.7%-66.4%) agreed to resident involvement. There were no associations between baseline characteristics and consent to resident involvement identified with any confidence, including race/ethnicity (60% [45 of 75] in white patients vs 30.8% [4 of 13] in nonwhite patients; difference, 29.2%; 95% CI, −0.7% to 57.3%; Fisher exactP = .07). Thematically, those who agreed to resident involvement listed trust in the attending surgeon, contributing to education, and supervision as contributing factors. Patients who declined stated fear and perceived risk as reasons. Conclusions and Relevance Our results suggest 45.7% to 66.4% of community private practice patients would consent to resident surgery. Consent rates were not associated with demographic factors. Because residents are less often offered the opportunity to do surgery on private practice patients vs academic center patients, this may represent a resource for resident education.

To better understand AAPOS member pediatric ophthalmologists' knowledge and needs regarding genetic eye disorders, the AAPOS Genetic Eye Disease Task Force developed a 16-question survey that was circulated to national and international AAPOS members. Responses to questions on practice patterns, baseline knowledge, and educational interests regarding patients with suspected ophthalmic genetic disorders were collected. A majority of respondents (93%) evaluate patients with suspected genetic disorders. Knowledge gaps were present in heritability of certain conditions, genetic testing strategies, and referral to clinical trials. Most respondents expressed interest in further education in these areas. A model for care is proposed as a first step in the education process.

The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. We report the first child with cri-du-chat and the findings of unilateral corneal staphyloma due to Peters anomaly and retinal dysplasia.

Early visual deprivation impairs some, but not all, aspects of face perception. We investigated the possible developmental roots of later abnormalities by using a face detection task to test infants treated for bilateral congenital cataract within 1 hour of their first focused visual input. The seven patients were between 5 and 12 weeks old ( n = 3) or older than 12 weeks ( n = 4). Like newborns, but unlike visually normal age-matched controls, the patients looked preferentially toward config (three squares arranged as facial features) over its inverted version and none of the older patients preferred a positive-contrast face over the negative-contrast version. We conclude that postnatal changes in face perception are experience-dependent, and that interference with their typical development may contribute to later deficits in face processing.

Dr Martin McKneally, a bioethicist at the University of Toronto Joint Centre for Bioethics, reminds us that “ethics” is a plural word, and that there is no correct “ethic.” Physicians come to ethic...

Background The Wills Eye Vision Screening Program for Children is a community-based vision screening program for children in urban Philadelphia elementary schools that aims to provide vision screening, remedy refractive error by providing glasses, and refer children with suspected nonrefractive eye disease for eye care. Methods Children in grades K-5 from 45 Philadelphia elementary schools were screened for distance and near visual acuity, stereopsis, and color vision from January 2014 to June 2015. Children who failed were assessed by an on-site optometrist. Two pairs of eyeglasses were provided at no cost. Children with suspected, nonrefractive disease were referred to Wills Eye Hospital Pediatric Ophthalmology and contacted by a social worker to schedule an appointment. Results Over 84 days, 10,726 children were screened for vision problems at 45 schools. A total of 1,321 children (12%) had refractive error and 1,015 children (77%) returned the consent form and received two pairs of glasses. Of the 509 children (5%) referred to Wills Eye, 177 returned consent forms and were not being followed by an ophthalmologist. Of these, 127 children (72%) completed an eye examination at Wills. Conclusions The program described herein can provide comprehensive vision screening, with eyeglasses and/or referrals, to children within an underserved community.

Contains fulltext : 110038.pdf (Publisher’s version ) (Closed access) Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that the ID and CFA phenotypes are both caused by haploinsufficiency of a single gene, PHF21A, at 11p11.2. PHF21A encodes a plant homeodomain finger protein whose murine and zebrafish orthologs are both expressed in a manner consistent with a function in neurofacial and craniofacial development, and suppression of the latter led to both craniofacial abnormalities and neuronal apoptosis. Along with lysine-specific demethylase 1 (LSD1), PHF21A, also known as BHC80, is a component of the BRAF-histone deacetylase complex that represses target-gene transcription. In lymphoblastoid cell lines from two translocation subjects in whom PHF21A was directly disrupted by the respective breakpoints, we observed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation. Our finding that disruption of PHF21A by translocations in the PSS region is associated with ID adds to the growing list of ID-associated genes that emphasize the critical role of transcriptional regulation and chromatin remodeling in normal brain development and cognitive function.

Purpose To review the management and outcomes of pediatric patients with cataract who were managed by one of two surgeons at a single institution. Methods An observational series of consecutive cases identified from the hospital's outpatient billing records and surgical data program were used. Visual acuity was measured with the Snellen or Allen charts. Glaucoma was defined as IOP >20 mm Hg with clinical signs of glaucoma or visual field loss. Procedures for aphakic/pseudophakic glaucoma were excluded from analysis of additional surgeries performed subsequent to cataract extraction. Results The search identified 778 patients (1,122 eyes) diagnosed with cataract over 10 years. Of these, 74% of eyes were treated surgically. Those patients with total, nuclear, and lamellar cataracts were significantly more likely than the overall population to undergo surgery. Additional surgeries were required in 12% of surgically treated eyes, with pseudophakic eyes representing more than one-half. Aphakic and pseudophakic glaucoma prevalence were 12% and 1%, respectively. Cataract morphology was not found to be a predisposing factor in the development of glaucoma. Visual outcomes were significantly better for posterior subcapsular ( P = 0.0001), nuclear ( P = 0.025), lamellar ( P = 0.03), and traumatic cataracts ( P = 0.005) than for other morphological types at all ages. Visual acuity was 20/30 or better in 63% of children with unilateral pseudophakia, 45% of children with unilateral aphakia, and approximately 75% of children with bilateral aphakia and pseudophakia. Conclusions Patients with total, nuclear, and lamellar cataracts were more likely to undergo surgery. Approximately 10% of patients required additional surgeries. No cataract morphology predisposed patients to developing glaucoma. Good visual outcomes were attained in bilaterally pseudophakic/aphakic and unilaterally pseudophakic children.

Objective To investigate the effectiveness of information transfer by the pediatric cataract surgeon to the parents or guardians of children during the informed-consent process. Design Prospective observational case series. Participants Parents of 31 children undergoing cataract surgery. Methods Parents were enrolled from the clinical practice of 1 pediatric cataract surgeon. Using a checklist developed in consultation with other pediatric cataract surgeons, the surgeon discussed the nature of the disease, the course without surgical intervention, the surgical procedure, the risks and benefits, and the postoperative care. Immediately after the discussion, parents were invited to complete a questionnaire assessing information recall. Analysis of variance and the t test were used to determine associations between questionnaire scores and demographic variables. The surgeon subsequently called parents and discussed again the issues that they had not remembered correctly, as identified by the questionnaire responses. The study and data accumulation were carried out with the approval of the Research Ethics Board at The Hospital for Sick Children, Toronto, Ont. Informed consent for the research was obtained from the parents or legal guardians of the children enrolled in the study. The study adhered to the tenets of the Declaration of Helsinki. Results Of 31 parents, 18 (58%) overestimated their understanding of the informed-consent discussion. Parents scored well on questions about the nature of the disease and the postoperative follow-up but scored lower on questions regarding surgical risks and outcomes. Parents identified several barriers to understanding, including the large amount of information, stress, and preoccupation with the child. No association was noted between the level of understanding and demographic factors. Conclusions Parents may overestimate their understanding of informed-consent discussions. Some parents may be overly optimistic about risks and outcomes. The surgeon's follow-up communication with parents that addressed aspects insufficiently understood during the initial discussion provided a way of improving comprehension.

Objectives Retinal hemorrhage is a cardinal manifestation of abusive head injury. Thrombophilia is relatively common in the general population and in adults can be associated with retinal hemorrhage. The specificity of retinal hemorrhage for abusive head trauma in the presence of prothrombotic factors, in particular following non-abusive head trauma, has not been investigated. Our objective was to determine whether the hypothesis that prothrombotic factors affect specificity of retinal hemorrhage to AHT can be tested. This may have important ramifications both for diagnosis and expert witness testimony. Methods To investigate the feasibility of studying this issue, we conducted a prospective cohort study of children with abusive and non-abusive head trauma. Thrombophilia screening and ophthalmic examinations were performed. Results Six of 30 admitted children were fully enrolled. Enrollment obstacles included caregiver stress, animosity towards allegations of abuse, child protection services involvement, and research phlebotomy coordination. Prevalence of thrombophilia was high in children with retinal hemorrhage and in 1 case the question of hemorrhage adjudicated as abuse was considered in light of a history of a fall. Conclusion We estimate that to answer the critical question of retinal hemorrhage specificity for abuse in the presence of thrombophilia will require 53 centers for a 1 year study or 18 centers for a 3-year study. We identify potential obstacles and interventions.

To evaluate the role of episcleral venous pressure (EVP) in the pathogenesis of glaucoma associated with Sturge-Weber syndrome (SWS).EVPs were determined prospectively using an episcleral venomanometer in 22 eyes of 11 patients aged 8-18 years with SWS with or without glaucoma. Pressure measurements in the glaucomatous eyes of patients with SWS were compared to those of patients with facial port wine marks but no glaucoma and to the contralateral uninvolved eye in both groups.EVP in eyes with glaucoma (mean, 20.9 mm Hg) was significantly higher (P0.01) than EVP in contralateral uninvolved eyes (mean, 9.6 mm Hg). In patients with unilateral port wine mark and no glaucoma, EVP was normal for ipsilateral and contralateral eyes (mean, 8.6 mm Hg and 9.6 mm Hg, respectively).Our data support the hypothesis that elevated EVP plays an important role in eyes with SWS glaucoma.

Background: To investigate central corneal thickness (CCT) in children with glaucoma and at risk for glaucoma. Methods: The study included 139 children with glaucoma: 66 at risk for glaucoma (ie, aphakia, aniridia, or uveitis) and 66 normal children. CCT was measured by ultrasound pachymetry and intraocular pressure (IOP) by applanation. Analysis of variance was used to compare CCT between groups. Correlation analysis assessed associations between CCT and ocular factors including spherical equivalent, cup-to-disc ratio, glaucoma medications, and number of intraocular surgeries. Results: CCT was significantly higher for 141 eyes with glaucoma (mean: 0.598 mm, P < .001) and 76 eyes at risk for glaucoma (mean: 0.604 mm, P = .001) than for 66 normal eyes (mean: 0.558 mm). No significant difference was observed between at-risk ( P = .989) and glaucoma eyes. Eyes with aphakia (0.653 mm) and aniridia (0.639 mm) had the thickest CCT values. Thinnest CCT was found in anterior segment dysgenesis and uveitis (mean: 0.541 mm). A significant positive correlation between CCT and spherical equivalent was found for glaucoma (r = 0.413; P < .001) and at-risk (r = 0.412; P < .0003) eyes, and between CCT and intraocular surgery for at-risk eyes ( P = .0066). A significant negative correlation was found between CCT and cup-to-disc ratio for glaucoma eyes (r = −0.223; P = .01). Conclusion: This is the largest series of CCT in pediatric glaucoma and related disorders. The data suggest caution in application of standard formulas for IOP-to-CCT correction when evaluating children with glaucoma because their mean CCT values extend far beyond values reported for normal eyes.

Albinism is a group of disorders characterized principally by its ophthalmic features with or without systemic manifestations. Persons with albinism manifest a wide variety of phenotypes and limited number of genotypes. Modern molecular genetics has encouraged a new classification and understanding of the subtypes of these disorders. In addition to the ocular and systemic manifestations, ophthalmologists must be familiar with the specific visual needs and psychological challenges of these individuals as well as those of their families.

Fee splitting and co-management are common practices in ophthalmology. These arrangements may conflict with the ethical principles governing the doctor—patient relationship, may constitute professional misconduct, and at times, may be illegal. Implications and perceptions of these practices may vary between different cultures. Full disclosure to the patient may minimize the adverse effects of conflicts of interest that arise from these practices, and may thereby allow these practices to be deemed acceptable by some cultural morays, professional guidelines, or by law. Disclosure does not necessarily relieve the physician from a potential ethical compromise. This review examines the practice of fee splitting in ophthalmology, its legal implications, the policies or guidelines governing such arrangements, and the possible ethical ramifications. Acomparative view between 3 countries, Canada, the United States, and Oman, was conducted; illustrating that even in disparate cultures, there may be some universality to the application of ethical principles.

Objectives To present a detailed confession from a perpetrator of Shaken Baby syndrome. Methods Case study. Results We present a confession of Shaken Baby syndrome describing how the perpetrator severely injured a 3 year old with repeated bursts of acceleration–deceleration (shaking). The child sustained retinal and intracranial hemorrhage. Details of the confession and circumstances by which it was obtained lead us to believe its accuracy. Conclusions Accurate perpetrator confessions offer useful windows into realities and pathophysiology of abusive head trauma.