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Purpose: To evaluate the accuracy of anterior segment optical coherence tomography (AS-OCT) for locating horizontal extraocular muscle (EOM) insertion after strabismus surgery. Methods: The distance from the limbus to the postoperative muscle insertion was measured with calipers intraoperatively and by AS-OCT during the postoperative visit of adults undergoing strabismus surgery. Images were collected by masked technicians. Intraclass correlation coefficients (ICC) were used to evaluate the agreement between measurements. Results: Twenty-eight patients were recruited. Measurements were taken from 31 eyes, including 17 lateral and 14 medial rectus muscles. EOM insertion was successfully identified by AS-OCT for 14 (45%) cases. The ICC between intra-operative and AS-OCT measurement was 0.886 when the distance from the limbus to the insertion of EOM was less than 8 mm and 0.001 when the distance from the limbus was between 8 and 10 mm. EOM insertion was undetectable if distance to the limbus was greater than 10 mm. Conclusions: AS-OCT can accurately identify post-surgical horizontal muscle insertion if the insertion is less than 8 mm from the limbus. [ J Pediatr Ophthalmol Strabismus . 2021;58(1):62–65.]

Background Retinal hemorrhages (RH) are a common manifestation of abusive head trauma (AHT) resulting from acceleration-deceleration injury with or without blunt impact. Evaluation of a child with RH requires careful consideration of these differential diagnoses. The extent to which coagulopathy alone can cause RH would be useful to understand as coagulopathy may accompany AHT. Objective In this systematic review, we sought to identify whether coagulopathies have been reported with RH similar to those of AHT. Methods We performed a literature search for ocular manifestations of bleeding disorders in children less than 18 years old. We included clotting factor deficiencies, vitamin K deficiency, platelet function abnormalities, thrombocytopenia, disseminated intravascular coagulation (DIC), and trauma induced coagulopathy (TIC). We included only pediatric reports of intraocular bleeding or documented eye examinations that indicated no hemorrhages. We then re-examined cases for ocular and systemic findings that could potentially mimic abuse. Results Our initial search yielded 816 results. Sixty-one articles met our inclusion criteria. Of these, there were 32 children within the AHT age range (less than 5 years old) who had RH and concomitant coagulopathy. Only 5 cases might potentially be confused for abuse. Of these, no classic characteristics of RH from abuse such as retinoschisis or retinal folds were found. Systemic features were inconsistent with AHT. Conclusions The presence of coagulopathy alone does not rule out the possibility that the child has been abused. Coagulopathy alone has not been reported as an etiology of RH that are consistent with AHT, especially when other findings are present.

Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular manifestations in Heimler syndrome due to mutations in PEX6.Medical records were reviewed to identify patient demographics, ophthalmic and systemic findings, and results of diagnostic testing including whole genome sequencing.Patient 1 is 12-year-old boy with a novel mutation c.275TG (p.Val92Gly) and known mutation c.1802GA (p.Arg601Gln) in PEX6. Patient 2 is a 7-year-old girl with the same known c.1802GA (p.Arg601Gln) mutation and another novel missense mutation c.296GT (p.Arg99Leu). Both patients exhibited a pigmentary retinopathy. Visual acuity in patient 1 was 20/80 and 20/25 following treatment of intraretinal cystoid spaces with carbonic anhydrase inhibitors, while patient 2 had visual acuity of 20/20 in both eyes without intraretinal cysts. Fundus autofluorescence showed a multitude of hyperfluorescent deposits in the paramacular area of both eyes. OCTs revealed significant depletion of photoreceptors in both patients and macular intraretinal cystoid spaces in one patient. Full field electroretinograms showed normal or abnormal photopic but normal scotopic responses. Multifocal electroretinograms were abnormal.Heimler syndrome due to biallelic PEX6 mutations demonstrates a macular dystrophy with characteristic fundus autofluorescence and may be complicated by intraretinal cystoid spaces.

We report the case of a 12-year-old girl diagnosed with Nicolaides-Baraitser syndrome with novel ocular features. Diagnosis was based on clinical features, including developmental delay, sparse hair, and craniofacial features along with de novo mutation in SMARCA2. Eye findings included bilateral glaucoma, cataracts, and degenerative vitreoretinopathy. Given the absence of an associated recognizable disorder and the low prevalence of these ocular findings in the general population, we suggest that these ocular features may not be chance association.

The characteristic findings of abusive head trauma (AHT) include retinal hemorrhages (RH). RH have many etiologies in childhood, which should be considered in the differential diagnosis of possible child abuse. The relationship between RH and thrombophilia in children is not well established.In this literature review, we sought to assess whether retinal findings in pediatric patients with thrombophilia could mimic those of AHT.A literature search was performed to identify all cases of thrombophilia in children less than 18 years old with ocular manifestations. Disorders of thrombophilia including protein C and S deficiency, factor V Leiden (FVL), prothrombin variant, MTHFR mutation, hyperhomocysteinemia, elevated factor VIII, and elevated lipoprotein (a) were considered. All cases of pediatric thrombophilia with retinal examination or intraocular bleeding were included. If provided, descriptions of the RH were reviewed.Our initial search yielded 514 results. Forty-three articles met our inclusion criteria. We identified 3 children with RH within the AHT usual age range (5 years old), ages 5 weeks and 7 weeks old, in the setting of thrombophilia. One child had ocular findings that could potentially mimic abuse. No other indicators of abuse were present in this case.Based on previous reports, thrombophilia alone has not been shown to clearly mimic abusive head trauma. In reported cases of thrombophilia with RH, the clinical picture and ophthalmic findings are usually distinct from abuse.

Background Convergence insufficiency (CI) is a common entity but seems to be an ill-defined diagnosis that incorporates many near-vision symptoms. The current literature often varies in its criteria for diagnosis. Without a clear definition and standardization of the clinical examination, there is the potential for misdiagnosis and/or the inclusion of other diagnoses as CI. The purpose of this study was to assess the uniformity of diagnostic criteria in a well-defined practice environment. Methods The medical records of individuals diagnosed with CI between June 2007 and November 2014 who were patients of 6 fellowship-trained strabismologists in private practices and at Wills Eye Hospital clinics were reviewed retrospectively. Exclusion criteria included any previous treatments for CI, prior strabismus surgery, or other causes for strabismus, including cranial nerve palsies. The following data were collected: age, sex, race, age at diagnosis, past medical and family history, relevant symptoms, visual acuity, near point of convergence (NPC), strabismus measurements, and fusional amplitudes at distance with base-out and base-in prisms. Results A total of 387 patients fit our inclusion criteria and were analyzed in our study. There was no uniformity across clinicians in the clinical evaluation and diagnosis of patients with CI. The amplitude of the NPC was highly variable, and most clinicians did not assess the quality of the convergence movement or perform convergence fusional amplitude testing in making the diagnosis of CI. Conclusions Our review has demonstrated the range of criteria within one group of practitioners to diagnose CI. This may reflect our current understanding and the need for an evidence-based definition of the disease and its diagnosis.

Purpose To provide detailed description of pediatric traumatic retinoschisis. Methods The medical records of children with either abusive head trauma and traumatic macular retinoschisis seen at a single center from 1993 to 2006 were reviewed retrospectively. Clinical details were extracted from the record and photographic documentation. Evaluation regarding abuse excluded ophthalmology findings to avoid circular reasoning. Results Of 134 patients with suspected abusive head trauma, 31 had retinoschisis. Mean age was 9 months. Of the 31, 22 (71%) offered a history of injury, and 9 (29%) were found unresponsive without history of injury; 6 were reportedly shaken. All patients had seizures, vomiting, and/or altered responsiveness. All had subdural hemorrhage, with cerebral edema in 17 (55%). In 10 (32%), there were findings of blunt force head injuries; in 4 of these there was no impact history. Retinal hemorrhages were present in all cases. Agreement between sidedness of retinoschisis and subdural hemorrhage was poor. Eleven patients had retinal folds, 3 of which had a hemorrhagic edge to the schisis. Nine patients had extracranial manifestations of abuse. Multidisciplinary team adjudications were as follows: of the 31 cases, 18 were suspicious for abuse, 11 were indeterminate, and 2 were possibly accounted for by accidental severe crush injury. Three children died, and 11 suffered neurological sequelae. Conclusions Traumatic retinoschisis in children is highly associated with subdural hemorrhage, neurologic symptoms, and poor outcomes. Even with a conservative approach to opinion formulation, traumatic retinoschisis was associated with likely abuse.