Deep Learning Approach for Differentiating Etiologies of Pediatric Retinal Hemorrhages: A Multicenter Study.

Retinal hemorrhages in pediatric patients can be a diagnostic challenge for ophthalmologists. These hemorrhages can occur due to various underlying etiologies, including abusive head trauma, accidental trauma, and medical conditions. Accurate identification of the etiology is crucial for appropriate management and legal considerations. In recent years, deep learning techniques have shown promise in assisting healthcare professionals in making more accurate and timely diagnosis of a variety of disorders. We explore the potential of deep learning approaches for differentiating etiologies of pediatric retinal hemorrhages. Our study, which spanned multiple centers, analyzed 898 images, resulting in a final dataset of 597 retinal hemorrhage fundus photos categorized into medical (49.9%) and trauma (50.1%) etiologies. Deep learning models, specifically those based on ResNet and transformer architectures, were applied; FastViT-SA12, a hybrid transformer model, achieved the highest accuracy (90.55%) and area under the receiver operating characteristic curve (AUC) of 90.55%, while ResNet18 secured the highest sensitivity value (96.77%) on an independent test dataset. The study highlighted areas for optimization in artificial intelligence (AI) models specifically for pediatric retinal hemorrhages. While AI proves valuable in diagnosing these hemorrhages, the expertise of medical professionals remains irreplaceable. Collaborative efforts between AI specialists and pediatric ophthalmologists are crucial to fully harness AI's potential in diagnosing etiologies of pediatric retinal hemorrhages.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.

Prevalence and Causes of Subconjunctival Hemorrhage in Children.

OBJECTIVE: Subconjunctival hemorrhage (SCH) is a reported sign of occult abusive injury, but there are limited published data about SCH during childhood. We sought to determine the prevalence and causes of SCH in children. METHODS: This is a retrospective cross-sectional study of children seen by pediatric ophthalmologists in an outpatient setting over 4 years. Primary outcomes were prevalence and causes of SCH, based on history, physical ocular and nonocular findings, and laboratory and imaging studies. Subconjunctival hemorrhage prevalence was determined including and excluding eye surgery to reduce bias in the prevalence estimate. RESULTS: We studied 33,990 children, who underwent 86,277 examinations (median age, 5 years; range, 2 days to 18 years; 9282 younger than 2 years, 13,447 age 2-7 years, 11,261 age 8-18 years). There were 949 cases of SCH (1.1%; 95% confidence interval, 1.0-1.2). When surgery was excluded, there were 313 cases (prevalence, 0.4%; 95% confidence interval, 0.3-0.4), of which 261 (83%) were due to trauma; 40 (13%) ocular surface inflammation, including infectious conjunctivitis; 7 (2%) orbital or conjunctival lesion; 3 (1%) vessel rupture from choking or cough; and 2 (1%) coagulopathy related. Across all ages, including less than 2 years, trauma and inflammation together accounted for 94% to 97% of all cases of SCH. CONCLUSIONS: Subconjunctival hemorrhage is uncommon in children. The great majority of cases are due to trauma. All children with SCH, including infants and young children, should be closely examined to identify other ocular or nonocular signs of trauma.

Retinal hemorrhage after pediatric neurosurgical procedures.

BACKGROUND: Neurosurgical procedures may occur prior to eye examination in children with suspected abusive head trauma and raise questions by child abuse physicians and ophthalmologists regarding the contribution of neurosurgery to retinal hemorrhage found postoperatively. The purpose of this study was to determine the prevalence and patterns of retinal hemorrhage attributable to neurosurgical intervention in children. METHODS: We conducted a retrospective cohort study of children undergoing neurosurgery who had postoperative ophthalmoscopy. Some children were also examined preoperatively. Primary outcome measures were the prevalence and patterns of retinal hemorrhage attributable to neurosurgical intervention. Medical records were reviewed to identify confounding coexistent diseases. RESULTS: Among 267 children undergoing 289 neurosurgical procedures, there were no cases in which children had post-procedural retinal hemorrhage that could be attributed to neurosurgery. Retinal hemorrhage was seen in 32 (12%) cases, but in every case they were either already present on preoperative examination (13 cases) or matched the pattern of a coexistent known cause of retinal hemorrhage, including head trauma with unambiguous history and/or nonocular signs (13), hydrocephalus-related increased intracranial pressure with papilledema-associated peripapillary retinal hemorrhage (5), and retinopathy of prematurity ridge-associated retinal hemorrhage (1). No retinal hemorrhage could be attributed only to neurosurgery. CONCLUSIONS: Although children undergoing child abuse evaluations may have intracranial hemorrhage requiring neurosurgery that occurs before a dilated retinal examination can be performed, our data suggest that neurosurgery independently is unlikely to produce retinal hemorrhage and therefore is not a significant confounding factor in the interpretation of retinal hemorrhage patterns in child abuse evaluations.

Patterns of retinal hemorrhage associated with cardiac arrest and cardiopulmonary resuscitation.

BACKGROUND: Hypoxia and cardiopulmonary resuscitation (CPR) have been proposed as causes of retinal hemorrhage (RH) in children evaluated for abusive head trauma (AHT). We sought to determine the prevalence and characteristics of RH in children who underwent CPR after cardiac arrest. METHODS: This was a prospective, single-center, consecutive observational study of 38 children (<18 years of age). Indirect ophthalmoscopic examination was completed by an ophthalmologist within 48 hours of CPR. Extensive medical records data were collected to assess for potential confounding factors. Outcomes included the presence and pattern of RH. RESULTS: Of the 38 children, 20 had in-hospital arrest; 18 had out-of-hospital arrest. The median duration of CPR was 10 minutes. Seven children had RH, of whom 6 had an RH pattern consistent with coexistent medical conditions: 4 AHT diagnosable with nonocular findings, including subdural and subarachnoid hemorrhage, rib fractures, abdominal injury (RH pattern: diffuse, numerous, intraretinal and/or multilayered RH); 1 septic shock (RH pattern: 1-2 posterior pole RH); 1 ruptured arteriovenous malformation (RH pattern: 4-8 peripapillary RH). The seventh child had unwitnessed cardiac arrest due to nonfatal drowning and a single superficial intraretinal peripapillary hemorrhage. CONCLUSIONS: CPR for cardiac arrest is rarely associated with RH, which, absent coexisting conditions causing retinal hemorrhage, are intraretinal, few in number, and located in the posterior pole. In children who have undergone CPR, when RH are multilayered, or are more than a few in number, or extend outside the posterior pole, another etiology for the RH should be sought.

Healthcare disparities for women hospitalized with myocardial infarction and angina.

AIMS: Ischaemic heart disease persists as the leading cause of death in both men and women in most countries and sex disparities, defined as differences in health outcomes and their determinants, may be relevant. We examined sex disparities in presenting characteristics, treatment and all-cause mortality in patients hospitalized with myocardial infarction (MI) or angina. METHODS AND RESULTS: We conducted a cohort study of all patients admitted with MI or angina (01 October 2013 to 30 June 2016) from a secondary care acute coronary syndrome e-Registry in NHS Scotland linked with national registers of community drug dispensation and mortality data. A total of 7878 patients hospitalized for MI or angina were prospectively included; 3161 (40%) were women. Women were older, more deprived, had a greater burden of comorbidity, were more often treated with guideline-recommended therapy preadmission and less frequently received immediate invasive management. Men were more likely to receive coronary angiography [adjusted odds ratio (OR) 1.52, confidence interval (CI) 1.37-1.68] and percutaneous coronary intervention (adjusted OR 1.68, CI 1.52-1.86). Women were less comprehensively treated with evidence-based therapies post-MI. Women had worse crude survival, primarily those with ST-elevation myocardial infarction (14.3% vs. 8.0% at 1 year, P < 0.001), but this finding was explained by differences in baseline factors. Men with non-ST-elevation myocardial infarction had a higher risk of all-cause death at 30 days [adjusted hazard ratio (HR) 1.72, CI 1.16-2.56] and 1 year (adjusted HR 1.38, CI 1.12-1.69). CONCLUSION: After taking account of baseline risk factors, sex differences in treatment pathway, use of invasive management, and secondary prevention therapies indicate disparities in guideline-directed management of women hospitalized with MI or angina.

An update of ophthalmic management in craniosynostosis.

Craniosynostosis has a varied clinical spectrum, ranging from isolated single suture involvement to multisutural fusions. Syndromic and nonsyndromic patients require orchestrated and multidisciplinary care from birth to adulthood. Advances in our understanding of craniosynostosis over the last quarter-century have resulted in more systematic management of the problems associated with the syndromic and nonsyndromic forms of this condition. This review provides an update on the genetic basis of, management of strabismus and oculoplastic manifestations in, and visual surveillance of patients with craniosynostosis.

Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes.

OBJECTIVES: Increased intracranial pressure (ICP) has been suggested in legal settings as an alternative cause of retinal hemorrhages (RHs) in young children who may have sustained abusive head trauma. We assessed the prevalence and characteristics of RHs in children with increased ICP. METHODS: We conducted a prospective, multicenter study of children <4 years old with newly diagnosed increased ICP as determined by using direct measurement and/or clinical criteria. Infants who were premature, neonates, and suspected survivors of abusive head trauma were excluded on the basis of nonocular findings. Fundus examinations were performed; extent, number, and type of RH in each of 4 distinct retinal zones were recorded. RESULTS: Fifty-six children (27 boys) were studied (mean age 15.4 months; range 1-43 months). All of the children had elevated ICP that required intervention. One child had papilledema. No child (0%; 95% confidence interval: 0%-6.4%) or eye (0%; 95% confidence interval: 0%-3.3%) was found to have an RH. Causes of increased ICP included hydrocephalus, intraventricular hemorrhage, congenital malformations, malfunctioning shunts, and the presence of intracranial space-occupying lesions. CONCLUSIONS: Although acute increased ICP can present in children with a pattern of peripapillary superficial RHs in the presence of papilledema, our study supports the conclusion that RHs rarely occur in the absence of optic disc swelling and do not present beyond the peripapillary area in the entities we have studied.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly confirmed 22q11.2DS from 1992 to 2018. Most individuals are Caucasian and older than 8 years. The mean age at diagnosis was 3.9 years. The majority of patients (85%) had typical LCR22A-LCR22D deletions, and only 7% of these typical deletions were inherited from a parent harboring the deletion constitutionally. However, 6% of individuals harbored other nested deletions that would not be identified by traditional 22q11.2 FISH, thus requiring an orthogonal technology to diagnose. Major medical problems included immune dysfunction or allergies (77%), palatal abnormalities (67%), congenital heart disease (64%), gastrointestinal difficulties (65%), endocrine dysfunction (>50%), scoliosis (50%), renal anomalies (16%), and airway abnormalities. Median full-scale intelligence quotient was 76, with no significant difference between individuals with and without congenital heart disease or hypocalcemia. Characteristic dysmorphic facial features were present in most individuals, but dermatoglyphic patterns of our cohort are similar to normal controls. This is the largest longitudinal study of patients with 22q11.2DS, helping to further describe the condition and aid in diagnosis and management. Further surveillance will likely elucidate additional clinically relevant findings as they age.

Linking hospital patient records for suspected or established acute coronary syndrome in a complex secondary care system: a proof-of-concept e-registry in National Health Service Scotland.

Aims: To implement secondary care electronic record linkage for patients hospitalized with suspected or known acute coronary syndrome (ACS) in a complex regional health care system and evaluate this e-Registry in terms of patterns of service delivery and 1-year outcomes. Methods and results: Existing electronic hospital records were linked to create episodes of care using (i) a patient administration system, (ii) invasive cardiovascular procedure referrals, and (iii) a catheter laboratory record. Data were extracted for admissions (1 October 2013-30 September 2014) with International Classification of Disease (ICD)-10 diagnosis of angina (I200-I209), myocardial infarction (I210-I229), other ischaemic heart disease (I240-I249) or heart failure (I50), linked to other sources to develop a secondary care ACS e-registry and analysed within a Safe Haven. Episodes of care were categorized into care pathways and evaluated in terms of patient characteristics, as well as service delivery metrics and outcomes including mortality. In all, 2327 patients had 2472 episodes of care. Diagnoses were hierarchically classified as ST-elevation myocardial infarction (STEMI) (586, 25.2%), non-ST-elevation myocardial infarction (NSTEMI) (1068, 45.9%), unspecified myocardial infarction (146, 6.3%), unstable angina (527, 22.6%) for the first hospitalization for each patient within the study period. Six care pathways were mapped. Percutaneous coronary intervention rate for STEMI was 80.2% and for NSTEMI 33.1%. Unadjusted all-cause mortality was 9.0% and 3.0% for STEMI and NSTEMI at 30 days, rising to 11.9% and 11.6% at 1 year. Analyses were validated by independent source data verification. Conclusion: The e-registry has enabled analysis of ACS hospitalizations in a complex health care system with implications for quality improvement and research.

Patterns of retinal hemorrhage associated with pediatric cerebral sinovenous thrombosis.

BACKGROUND: Cerebral sinovenous thrombosis (CSVT) has been proposed as an alternative cause of retinal hemorrhage (RH) in children being evaluated for abusive head trauma. This study investigated the prevalence and characteristics of RH in children with CSVT. METHODS: The medical records of children >6 weeks of age with newly diagnosed CSVT and fundus examination by an ophthalmologist were examined retrospectively. Primary outcomes were presence and patterns of RH. RESULTS: A total of 29 children (median age, 9 years; range, 7 weeks to 17 years) were studied. Of these, 5 (17%) had RH, in 4 of whom RH were peripapillary, superficial, intraretinal, and adjacent to a swollen optic disk. In the fifth child, who had meningitis, sepsis, and multiple cerebral infarcts, there were a moderate number of posterior pole intraretinal hemorrhages. Eighteen children (62%) had optic disk swelling. In 13 children, cerebrospinal fluid opening pressure was recorded (range, 27-59 cm H2O). CSVT risk factors included meningitis, mastoiditis, and hypercoagulability. CONCLUSIONS: RH in pediatric CSVT was uncommon. When RHs were present, the appearance matched RH patterns known to be caused by medical conditions, such as raised intracranial pressure and sepsis, also present in these children. These findings suggest that the RHs are due to these other causes and not directly to CSVT itself. In children with CSVT, if RHs are multilayered, extend beyond the peripapillary region into the rest of the posterior pole or retinal periphery, or occur in the absence of optic disk swelling, another etiology for the RH should be sought.

The natural history of retinal hemorrhage in pediatric head trauma.

BACKGROUND: Ophthalmologists are commonly asked to interpret appearance of retinal hemorrhages (RH) in children with suspected traumatic head injury. We sought to determine the natural history of RH in young children with head trauma and to identify patterns suggestive of chronicity in order to help establish timing of suspected traumatic injury. METHODS: The medical records of children <2 years of age with abusive or accidental head trauma and RH on initial fundus examination who had 1 or more follow-up examination were retrospectively reviewed. Types of RH (intraretinal, preretinal) were noted; intraretinal hemorrhage (IRH) severity was graded as mild (0-10), moderate (10-20), or severe (>20, too numerous to count [TNTC]). RESULTS: A total of 91 eyes of 52 children were studied. All eyes had IRH (62 eyes with TNTC). In all but one eye, IRH resolved to none or mild within 1-2 weeks. TNTC IRH did not persist beyond a few days. The longest an isolated IRH persisted was 32 days. Preretinal hemorrhage (PRH) was present in 68 eyes, persisting 5-111 days. On initial examination, 25% of eyes had only IRH, 75% both PRH and IRH; no eyes had only PRH. At 2 weeks, 3% had only IRH, 18% both, and 45% only PRH. In no eyes did RH worsen. CONCLUSIONS: IRH clears rapidly, whereas PRH may persist for many weeks. The presence of TNTC IRHs indicates that trauma occurred within a few days prior to examination, whereas the presence of PRH with no or few IRHs suggests days to weeks since trauma. To accurately identify these patterns, eye examinations should be completed as soon as possible after admission, preferably within 24-48 hours.

Ocular findings associated with chromosome 22q11.2 duplication.

We describe the ocular features of the chromosome 22q11.2 duplication syndrome and provide ophthalmologic examination recommendations for affected patients. The medical records of 19 children with chromosome 22q11.2 duplication who had undergone complete ophthalmological examination, including dilated fundus examination and cycloplegic refraction, were studied retrospectively. Over half of the children with 22q11.2 duplication syndrome were found to have visually significant ocular abnormalities, including 6 with strabismus, 2 with moderately high astigmatism requiring glasses, 1 with unilateral congenital cataract requiring surgery, 1 with optic disk drusen, 1 with bilateral megalocornea with normal eye pressures, 1 with nystagmus that resolved spontaneously, and 1 with delayed visual maturation. Because of the high incidence of conditions that could affect visual development, we recommend that children with 22q11.2 duplication syndrome have a complete ophthalmological examination on diagnosis and regular vision screenings by their primary care physician thereafter.

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PURPOSE: To describe in detail the retinal structure and function of a group of patients with cobalamin C (cblC) disease. METHODS: Patients (n = 11, age 4 months to 15 years) with cblC disease (9/11, early onset) diagnosed by newborn screening underwent complete ophthalmic examinations, fundus photography, near-infrared reflectance imaging, and spectral-domain optical coherence tomography (SD-OCT). Electroretinograms (ERGs) were performed in a subset of patients. RESULTS: Patients carried homozygous or compound heterozygote mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. Late-onset patients had a normal exam. All early-onset patients showed a maculopathy; older subjects had a retina-wide degeneration (n = 4; >7 years of age). In general, retinal changes were first observed before 1 year of age and progressed within months to a well-established maculopathy. Pseudocolobomas were documented in three patients. Measurable visual acuities ranged from 20/200 to 20/540. Nystagmus was present in 8/11 patients; 5/6 patients had normal ERGs; 1/6 had reduced rod-mediated responses. Spectral-domain OCT showed macular thinning, with severe ganglion cell layer (GCL) and outer nuclear layer (ONL) loss. Inner retinal thickening was observed in areas of total GCL/ONL loss. A normal lamination pattern in the peripapillary nasal retina was often seen despite severe central and/or retina-wide disease. CONCLUSIONS: Patients with early-onset cblC and MMACHC mutations showed an early-onset, unusually fast-progressing maculopathy with severe central ONL and GCL loss. An abnormally thickened inner retina supports a remodeling response to both photoreceptor and ganglion cell degeneration and/or an interference with normal development in early-onset cblC.

Evaluation of Temporal Association Between Vaccinations and Retinal Hemorrhage in Children.

IMPORTANCE: Vaccinations have been proposed as a cause of retinal hemorrhage in children, primarily as part of a defense strategy in high-stakes abusive head trauma cases. If vaccination injections cause retinal hemorrhage, this consideration would affect the evaluation of children for suspected child abuse. OBJECTIVES: To describe the prevalence and causes of retinal hemorrhage among infants and young children in an outpatient ophthalmology clinic and to test the hypothesis that, if vaccination injections cause retinal hemorrhage, then retinal hemorrhage would be seen frequently and be temporally associated with immunization. DESIGN, SETTING, AND PARTICIPANTS: Retrospective cohort study between June 1, 2009, and August 30, 2012, at The Children's Hospital of Philadelphia pediatric ophthalmology clinics among 5177 children 1 to 23 months old undergoing a dilated fundus examination as an outpatient for any reason. Children with intraocular surgery or active retinal neovascularization were excluded from the study. MAIN OUTCOMES AND MEASURES: The prevalence and causes of retinal hemorrhage, as well as the temporal association between vaccination injection within 7, 14, or 21 days preceding examination and retinal hemorrhage. RESULTS: Among 7675 outpatient fundus examinations, 9 of 5177 children had retinal hemorrhage for a prevalence of 0.17% (95% CI, 0.09%-0.33%). All 9 had abusive head trauma diagnosable with nonocular findings. Among a subset of 2210 children who had complete immunization records and underwent 3425 fundoscopic examinations, 163 children had an eye examination within 7 days of vaccination, 323 within 14 days, and 494 within 21 days. No children had retinal hemorrhage within 7 days of vaccination, 1 child had hemorrhage within 14 days, and no additional child had hemorrhage within 21 days. There was no temporal association between vaccination injection and retinal hemorrhage in the prior 7 days (P > .99), 14 days (P = .33), or 21 days (P = .46). CONCLUSIONS AND RELEVANCE: Retinal hemorrhage was rare among outpatients younger than 2 years. Considering both immediate and delayed effects, no temporal association existed between vaccination injection and retinal hemorrhage. Vaccination injections should not be considered a potential cause of retinal hemorrhage in children, and this unsupported theory should not be accepted clinically or in legal proceedings. Ophthalmologists noting incidental retinal hemorrhage on an outpatient examination should consider a child abuse evaluation in the absence of other known ocular or medical disease.

Ocular Complications in Children with Diabetes Mellitus.

PURPOSE: The effectiveness of annual eye examinations in diabetic children is unclear. We sought to determine the prevalence and onset of ocular pathology in children with diabetes mellitus (DM), identify risk factors for ocular disease, and recommend a screening regimen for asymptomatic children. DESIGN: Retrospective, consecutive cohort study. PARTICIPANTS: Children aged less than 18 years with type 1 or 2 DM examined over a 4-year period. METHODS: All children underwent a complete eye examination, including dilated fundoscopy and cycloplegic refraction. A literature review was performed, identifying the youngest reported age and shortest reported duration of DM before the diagnosis of diabetic retinopathy (DR). MAIN OUTCOME MEASURES: Prevalence of DR, cataract, high refractive error, and strabismus. RESULTS: A total of 370 children (mean age, 11.2 years; range, 1-17.5 years) had 693 examinations, with a mean DM duration of 5.2 years (range, 0.1-16.2 years) and a mean hemoglobin A1c (HbA1c) of 8.6 (range, 5-≥14). No children had DR. A total of 12 children had cataract; 5 required extraction but were identified by decreased vision, not diabetic screening. A total of 19 children had strabismus; only 1 was microvascular paralytic strabismus. A total of 41 children had high refractive error. There were no associations between these conditions and duration or control of DM. In the literature, the youngest age at diagnosis of severe DR was 15 years, and the shortest duration of disease was 5 years. CONCLUSIONS: Diabetic retinopathy is rare in children regardless of duration and control of DM. On the basis of our study and literature review, screening examinations for type 1 diabetes could begin at age 15 years or at 5 years after the diagnosis of DM, whichever occurs later, unless the child is judged by the endocrinologist as being at unusually high risk. Other ocular complications are identifiable through existing amblyopia screening methods.

New Management Strategies for Ectopia Lentis.

Ectopia lentis refers to displacement of the crystalline lens in the setting of various systemic and metabolic disorders. A literature review was conducted to investigate the management of non-traumatic ectopia lentis in the pediatric population, particularly focusing on surgical intervention. Both limbal and pars plana approaches for lensectomy are well established in the literature. Surgical options for intraocular lens implantation in pediatric eyes with ectopia lentis include anterior chamber intraocular lenses and iris-fixated or scleral-fixated posterior chamber intraocular lenses. Recently, the use of capsular tension rings has also been described with promising results. Visual rehabilitation and treatment of amblyopia are essential for patients within the amblyogenic age group following surgical intervention.

The prevalence of strabismus in unilateral coronal synostosis.

BACKGROUND: While there is a clear correlation between unilateral coronal synostosis (UCS) and ocular motility abnormalities, the literature provides little information as to the true epidemiology of strabismus, or the underlying etiology of these paralleled pathologies. The purpose of this study is to investigate the rate of oculomotor abnormalities associated with UCS and its management. METHODS: A retrospective review of all patients identified to have single-suture, nonsyndromic UCS treated by fronto-orbital advancement at a tertiary craniofacial referral center from 1977 to 2013 was performed. Inclusion criteria mandated complete medical, surgical, and ophthalmological records. Patients were evaluated for strabismus both preoperatively and postoperatively, and as to whether eye muscle surgery was performed. RESULTS: A total of 181 patients underwent treatment for UCS at our institution during the study period, of which 79 met the inclusion criteria. Twenty-nine patients had strabismus prior to any craniofacial surgical intervention. Following fronto-orbital advancement, 23 patients (46 %) developed a new onset strabismus. Fifty-five patients had no change in their preoperative ocular examination, and one patient had resolution of preoperative strabismus. Of the 51 patients who had postoperative strabismus, 30 went on to have eye muscle surgery. There were no statistically significant differences in gender (p=0.477), race (p=0.395), sidedness of suture involvement (p=0.552), or age at intervention (p=0.66) in comparing the group with new postoperative strabismus and those without. CONCLUSIONS: This study sheds new light on the prevalence of strabismus in UCS, and more importantly, the risk of developing strabismus in the setting of conventional fronto-orbital advancement. This data will allow more accurate preoperative counseling and reinforces the important role of ophthalmologists as members of the multidisciplinary craniofacial team.

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.

PURPOSE: To describe the retinal structure in a patient with cobalamin C (cblC) disease. METHODS: A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT). RESULTS: The patient carried a homozygous (c.271dupA) mutation in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. At age 3 months he had a normal eye exam. A pigmentary maculopathy progressed to chorioretinal atrophy from 5-10 months. ERG at 7 months was normal. A nystagmus remained stable since the age of 2 years. At age 13, visual acuity was 20/250 (right eye) and 20/400 (left eye), with a +5.00 D correction, a level of vision maintained since first measurable at age 5 years. SD-OCT showed bilateral macular coloboma-like lesions; there was also a thickened surface layer with ganglion cell layer thinning. Photoreceptor outer segment loss and thinning of the outer nuclear layer (ONL) transitioned to regions with no discernible ONL with a delaminated, thickened, inner retina. CONCLUSIONS: A thick surface layer near the optic nerve resembling an immature retina and an initially normal macula that rapidly developed coloboma-like lesions suggest there may be an interference with retinal/foveal development in cblC, a mechanism of maculopathy that may be shared by other early onset retinal degenerations. Photoreceptor loss and inner retinal remodeling confirm associated photoreceptor degeneration.

The eye in child abuse: key points on retinal hemorrhages and abusive head trauma.

This review presents an up-to-date overview of ocular injuries resulting from child abuse, with a spotlight on abusive head trauma. Retinal hemorrhage is a principle finding of inflicted head trauma. The specific pattern of hemorrhages holds valuable diagnostic information, which can help to guide multidisciplinary assessments of the likelihood of abuse. Indirect ophthalmoscopy through dilated pupils by an ophthalmologist is necessary for adequate examination and documentation of retinal findings. Initial pediatrician evaluation of the eye and indications for ophthalmological consultation are reviewed. Focus is then placed upon understanding retinal hemorrhage patterns, their diagnostic significance and likely pathophysiological mechanisms. The differential diagnosis of retinal hemorrhage in young children is discussed, highlighting key distinctions among retinal hemorrhage patterns, severity and frequencies, as well as other ocular findings. The most common cause of retinal hemorrhage in an infant is trauma, and most other causes can be identified by considering the hemorrhage pattern, ocular or systemic signs and the results of laboratory and imaging tests, when indicated.