Orbital Metastasis Is Associated With Decreased Survival in Stage M Neuroblastoma.

BACKGROUND: Approximately 30% of patients with metastatic (stage M) neuroblastoma present with periorbital ecchymosis from orbital osseous disease. Though locoregional disease is staged by imaging, the prognostic significance of metastatic site in stage M disease is unknown. We hypothesize that, compared to nonorbital metastasis, orbital metastasis is associated with decreased survival in patients with stage M neuroblastoma, and that periorbital ecchymosis reflects location and extent of orbital disease. PROCEDURE: Medical records and imaging from 222 patients with stage M neuroblastoma seen at St. Jude Children's Research Hospital between January 1995 and May 2009 were reviewed. Thirty-seven patients were <18 months of age at diagnosis and 185 were ≥18 months of age. Overall survival (OS) and 5-year survival (5YS) were compared for patients with and without orbital, calvarial and nonorbital osseous metastasis, and with and without periorbital ecchymosis (log-rank test). Associations of periorbital ecchymosis with orbital metastasis location/extent were explored (Fisher's exact test, t-test). RESULTS: In patients ≥18 months of age, only orbital metastasis was associated with decreased 5YS (P = 0.0323) and OS (P = 0.0288). In patients <18 months of age, neither orbital, calvarial, or nonorbital bone metastasis was associated with OS or 5YS. Periorbital ecchymosis was associated with higher number of involved orbital bones (P = 0.0135), but not location or survival. CONCLUSIONS: In patients ≥ 18 months of age with stage M neuroblastoma, orbital metastatic disease is associated with decreased 5YS and OS. In future clinical trials, orbital disease may be useful as an imaging-based risk factor for substratification of stage M neuroblastoma.

Outcomes of Strabismus Surgery Following Teprotumumab Therapy.

PURPOSE: To investigate the results of patients undergoing surgical treatment for strabismic diplopia in thyroid eye disease (TED) following teprotumumab. DESIGN: Multicenter, retrospective, case series. METHODS: We report 28 patients who underwent extraocular muscle surgery for strabismic diplopia after treatment with teprotumumab at 7 different academic centers. Elapsed time from last teprotumumab dose to the date of surgery, previous orbital decompression, primary preoperative horizontal and vertical deviation, surgical procedure, and 2-month postoperative results were collected from the patient records. RESULTS: Sixteen (57%) patients were diplopia-free after 1 surgery. Three (11%) chose prism spectacles to correct residual diplopia, 2 (7%) used compensatory head posture to resolve diplopia, and 1 (4%) had intermittent diplopia and was functionally improved (choosing no prisms or further surgery). These were considered treatment successes. Three (11%) patients required reoperation, and all were diplopia-free after their second procedure. CONCLUSIONS: Most patients requiring surgery for strabismic diplopia following teprotumumab achieve good outcomes with success rates comparable to series published before the availability of teprotumumab.

Effect of Age at Primary Intraocular Lens Implantation on Refractive Growth in Young Children.

PURPOSE: To evaluate the effect of age at primary intraocular lens (IOL) implantation on rate of refractive growth (RRG3) during childhood. METHODS: A retrospective chart review was performed for children undergoing primary IOL implantation during cataract surgery. RRG3 was calculated for one eye from each patient using the first postoperative refraction, last refraction that remained stable (< 1.00 diopters [D] change/2 years), and the corresponding ages. RRG3 values for pseudophakic patients operated on from ages 0 to 5 months were compared with values for patients operated on at ages 6 to 23 months and 24 to 72 months. Patients with refractive errors that stabilized were grouped by age at surgery to compare age at refractive plateau. RESULTS: Of 296 eyes identified from 219 patients, 46 eyes met the inclusion criteria. There was a statistically significant difference in RRG3 among age groups. The mean RRG3 value was -19.82 ± 5.23 D for the 0 to 5 months group, -22.32 ± 7.45 D for the 6 to 23 months group (0 to 5 months vs 6 to 23 months, P = .43), and -9.64 ± 11.95 D for the 24 to 72 months group (0 to 5 months vs 24 to 72 months, P = .01). CONCLUSIONS: Age at primary IOL implantation affects the RRG3, especially for children 0 to 23 months old at surgery. Surgeons performing primary IOL implantation in infants may want to use age-adjusted assumptions, because faster refractive growth rates can be expected in young children. [J Pediatr Ophthalmol Strabismus. 2020;57(4):264-270.].

Unilateral Abducens Nerve Palsy Following Perinatal Stroke of the Middle Cerebral Artery.

The authors describe a case of unilateral abducens nerve palsy following perinatal stroke of the middle cerebral artery. A 1-year-old boy presented with left eye esotropia but no other ocular abnormalities. The patient's history, examination, and diagnostic tests were consistent with abducens nerve palsy. He underwent left medial rectus recession of 5.5 mm and left lateral rectus resection of 7 mm followed by patching. At 15 months after surgery, primary gaze by prism alternate cover testing revealed a 4 prism diopter (PD) esophoria (small angle in left gaze with essentially no action of lateral rectus) and 2 PD right hyperphoria. Ophthalmologic management of abducens nerve palsy entails addressing neurological sequelae in a timely manner, treating the esotropia and strabismic amblyopia to optimize visual system development. [J Pediatr Ophthalmol Strabismus. 2020;57:e30-e33.].

Lateral rectus muscle resection following maximal recession of the medial rectus muscle in thyroid eye disease.

BACKGROUND: Rectus muscle restriction is a common finding in thyroid eye disease (TED). Typically, restricted muscles are recessed to address strabismus and diplopia. However, some patients have residual strabismus following maximal recession of a restricted muscle. The purpose of this study was to report outcomes following resection of the lateral rectus muscle after maximal recession of the medial rectus muscle in patients with TED. METHODS: The medical records of patients with TED who underwent lateral rectus resection between 1998 and 2015 were reviewed retrospectively. Information regarding thyroid disease history and surgical treatment, including history of orbital decompressions, rectus muscle recessions, rectus muscle resections, and pre- and postoperative alignment was collected. Adjustable suture was used in all cases. Success was defined as a postoperative orthotropia with ≤2Δ of phoria at distance and a phoria at near. RESULTS: A total of 11 patients were included. Of these, 10 (91%) required postoperative adjustment. A successful outcome was achieved in 10 cases (91%). CONCLUSIONS: Lateral rectus muscle resection to address residual esotropia and diplopia was effective at reducing residual esotropia following medial rectus recession in our study cohort.

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.

PURPOSE: To report longitudinal phenotypic findings in a patient with Sanfilippo syndrome type IIIA, harboring SGSH mutations, one of which is novel. METHODS: Heparan-N-sulfatidase enzyme function testing in skin fibroblasts and white blood cells and SGSH gene sequencing were obtained. Clinical office examinations, examinations under anesthesia, electroretinogram, spectral domain optical coherence tomography (SD-OCT), and fundus photography were performed over a 5-year period. RESULTS: Fundus examination revealed a progressive breadcrumb-like pigmentary retinopathy with perifoveal pigmentary involvement. SD-OCT showed loss of normal neuroretinal lamination and cystic macular changes responsive to treatment with carbonic anhydrase inhibitors. Electroretinography exhibited complex characteristics indicative of a generalized retinal rod > cone dysfunction with significant ON > OFF postreceptoral response compromise. Sequencing revealed compound heterozygous mutations in the SGSH gene, the novel c.88G > C (p.A30P) change and a second, previously reported one (c.734G > A, p.R245H). CONCLUSIONS: We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction. SD-OCT imaging revealed retinal lamination changes consistent with previously reported histologic studies. Both the SD-OCT and the electroretinogram changes appear attributable to intraretinal deposition of heparan sulfate.

Orbital pseudotumor in a child with juvenile rheumatoid arthritis.

We report a child with persistent fevers, arthritis, and parvoviral infection who subsequently developed unilateral orbital pseudotumor, lytic bone lesions, bilateral anterior uveitis, band keratopathy, and migratory polyarthritis. Our working diagnosis was systemic-onset juvenile rheumatoid arthritis, although pseudotumor of the orbit and lytic bone lesions are not found in this disease.

Postoperative shift in ocular alignment following single vertical rectus recession on adjustable suture in adults without thyroid eye disease.

PURPOSE: To determine whether overcorrection shifts occur after vertical rectus recession on adjustable suture in the absence of thyroid eye disease. METHODS: The medical records of patients without thyroid eye disease who underwent vertical rectus recession surgery from 2001 to 2008 were retrospectively reviewed for shifts in alignment between suture adjustment at postoperative day 1 and 2 months' follow-up. Superior rectus and inferior rectus recessions were compared. In addition, we compared the use of a nonabsorbable polyester suture to an absorbable polyglactin 910 suture in nonthyroid patients undergoing inferior rectus recessions. RESULTS: A total of 59 patients were included (superior rectus, 30; inferior rectus, 29). We found a mean undercorrection shift of 1.1 (range, 17.5(Δ) undercorrection to 16(Δ) overcorrection) and 1.0(Δ) (range, 12(Δ) undercorrection shift to 6(Δ) overcorrection shift) for superior and inferior rectus recessions, respectively, between 1 day and 2 months postoperatively. CONCLUSIONS: There was no trend toward overcorrection following unilateral vertical rectus adjustable suture recessions in patients without thyroid eye disease, suggesting that thyroid myopathy may account for overcorrection shifts seen with this surgery.

Residual Strabismus in Children Following Improvement of Cranial Nerve Palsies Affecting Ocular Ductions.

BACKGROUND: Children with brain neoplasms often develop cranial nerve palsies (CNP) affecting ocular ductions. Duction deficits may improve or resolve with treatment of their intracranial disease. However, these children may be left with residual strabismus. METHODS: We identified 104 children with third, fourth, and/or sixth cranial nerve palsies who were treated for central nervous system (CNS) neoplasms. A retrospective chart review was conducted to determine the presence or absence of residual strabismus following resolution of duction deficits. RESULTS: Of the 104 children with CNP secondary to an intracranial neoplasm, forty-five had improvement or resolution of their duction deficit with treatment of their CNS lesion. Of these forty-five children, one had a third cranial nerve palsy, six had fouth cranial nerve palsies (one was bilateral), thirty-seven had sixth cranial nerve palsies (thirteen were bilateral), and one had two different cranial nerve palsies in the same eye (fourth and sixth). Of the eighteen children with improved (but not resolved) duction deficits, only three (17%) experienced resolution of their strabismus. Of the twenty-seven children with resolved duction deficits, nine (33%) experienced resolution of their strabismus. For the children with residual strabismus, the average angle of strabismus before duction deficits improved or resolved was 33.2Δ; while for those children without residual strabismus, it was 20Δ. CONCLUSIONS: Our findings indicated that the majority of children with improved or resolved duction deficits from CNP after treatment for CNS neoplasms are left with residual strabismus. Therefore, we suggest children with CNP secondary to CNS neoplasms need ophthalmic care after duction deficits resolve, as they are likely to have residual strabismus.

Establishing a surgical outreach program in the developing world: pediatric strabismus surgery in Guatemala City, Guatemala.

PURPOSE: To report our experince in establishing a sustainable pediatric surgical outreach mission to an underserved population in Guatemala for treatment of strabismic disorders. METHODS: A pediatric ophthalmic surgical outreach mission was established. Children were evaluated for surgical intervention by 3 pediatric ophthalmologists and 2 orthoptists. Surgical care was provided at the Moore Pediatric Surgery Center, Guatemala City, over 4 days. Postoperative care was facilitated by Guatemalan physicians during the second year. RESULTS: In year 1, patients 1-17 years of age were referred by local healthcare providers. In year 2, more than 60% of patients were prescreened by a local pediatric ophthalmologist. We screened 47% more patients in year 2 (132 vs 90). Diagnoses included congenital and acquired esotropia, consecutive and acquired exotropia, congenital nystagmus, Duane syndrome, Brown syndrome, cranial nerve palsy, dissociated vertical deviation, and oblique muscle dysfunction. Overall, 42% of the patients who were screened underwent surgery. We performed 21 more surgeries in our second year (58 vs 37), a 57% increase. There were no significant intra- or postoperative complications. CONCLUSIONS: Surgical outreach programs for children with strabismic disorders in the developing world can be established through international cooperation, a multidisciplinary team of healthcare providers, and medical equipment allocations. Coordinating care with local pediatric ophthalmologists and medical directors facilitates best practice management for sustainability.

Traumatic avulsion of the oculomotor nerve documented by high-resolution magnetic resonance imaging.

Autopsy studies have described definitive traumatic avulsion of the oculomotor nerve from the brainstem; however, detailed characterization of mechanisms and localization of traumatic nerve injury has yet to be definitively described in vivo. We report the case of a 13-year-old girl in whom high-resolution magnetic resonance imaging confirmed irreversible injury to the left oculomotor nerve after trauma.

Traumatic hyphemas in children secondary to corporal punishment with a belt.

PURPOSE: To report the severity of ocular injury in seven children with traumatic hyphemas resulting from the accidental striking of the child in the face with a belt during the administration of corporal punishment. DESIGN: Observational case series. METHODS: We retrospectively reviewed the records of all patients (n = 7, aged 4 to 14 years) with traumatic hyphemas secondary to belt injuries evaluated by the senior author between 1989 to 2002 at Le Bonheur Children's Medical Center, a regional pediatric referral hospital in Memphis, Tennessee. RESULTS: Anterior segment injuries ranged from small hyphemas with normal intraocular pressure and no vision loss to injuries with severe elevations of intraocular pressure and permanent, significant loss of vision. CONCLUSIONS: Ocular injury to a child can result from trauma inflicted with a belt by a parent or caretaker during corporal punishment and may result in permanent loss of vision.

Fat adherence syndrome: an animal model.

BACKGROUND: Fat adherence syndrome (FAS) is a permanent restrictive strabismus that can occur after periocular surgery or trauma. The pathophysiology is poorly characterized. METHODS: Under varying conditions, fat autografts were secured with dissolvable sutures between the inferior rectus and the periosteum of the inferior orbital rim in both eyes of 15 New Zealand white rabbits. Sutures without fat autografts were placed in both eyes of three control rabbits. The force required to move the eyeball superiorly 4, 6, or 8 mm was measured with a digital strain gauge preoperatively and 6 weeks after surgery. Twelve of the 15 rabbits with autografts were then sacrificed, and exenteration specimens were taken. The three remaining rabbits (six eyes) were observed for 6 months after placement of fat autografts. RESULTS: Analysis of variance allowed rejection of the null hypothesis that there was no difference among the postsurgical groups for all deflection points when 6 weeks postoperative was compared to baseline (preoperative) measurements (P < or = 0.05). Regression analyses showed that stiffness at each deflection was dependent on the amount of fat placed in the orbit. In three rabbits observed for 6 months, restriction tended to be stable over the 6-month observation period and was not alleviated by lysis of adhesions or removal of the fat grafts. CONCLUSION: A fat autograft introduced into an extraocular wound in rabbits will produce a permanent restrictive strabismus. This model may prove useful in the study of FAS.

Brown's Syndrome in the absence of an intact superior oblique muscle.

Brown's Syndrome was initially described as a superior oblique tendon sheath syndrome-a short anterior tendon resulting in a restricted elevation of the globe in the nasal field. Brown believed that a congenital paralysis of the inferior oblique muscle resulted in this secondary shortening of the anterior sheath of the superior oblique tendon. The definition of Brown's Syndrome has changed over time. It is currently defined as the inability to elevate the eye in the adducted position, both actively and passively on force duction testing, and can be acquired. The pathophysiology of acquired Brown's Syndrome may involve an abnormality of the superior oblique trochlea/tendon complex. However, it may also result from other causes unrelated to the superior oblique tendon or muscle, such as tumors of the superior nasal orbit, inferior orbital mechanical restriction, or an inferiorly displaced lateral rectus muscle and pulley. We present two cases in which a Brown's Syndrome was diagnosed after the superior oblique muscle had been disinserted or removed.

Natural history of acquired retinal oxalosis in a child.

We report the natural history of acquired retinal oxalosis in a child with chronic renal failure. The clinical manifestations were characterized by a transient crystalline retinopathy, but stable, diffuse, flecked retina-like changes and focal hypertropic retinal pigment epithelial lesions. The pathophysiology and previous reports of retinal oxalosis are reviewed.

Bilateral ametropic functional amblyopia in genetic ectopia lentis: its relation to the amount of subluxation, an indicator for early surgical management.

To determine the visual results of conservative (non- surgical) therapy, we reviewed all our patients with genetic ectopia lentis, with and without Marfan's Syndrome. Of these patients, 50% had significant permanent (or potentially so) ametropic functional amblyopia (visual acuity 20/50 to 20/200) in spite of good conservative management. This was especially true (100%) if the amount of lens dislocation was such that the lens edge was approaching the center of the pupil (vision still primarily phakic). The worst amblyopia was noted when the lens was still covering the visual axis and the lens edge was 1.3 mm from the center of the pupil (range of 0.3 to 2.3 mm). With regard to the most serious complication of ectopia lentis and its treatment, retinal detachment, when it occurred in our patients it was more strongly related to axial high myopia than surgery, per se. Since the axial high myopia which characteristically develops in ectopia lentis is probably the result of the amblyopia or the amblyopiagenic optics of ectopia lentis, lentectomy may be indicated early in this condition, before the axial high myopia develops, to prevent both axial high myopia and the attendant risks of retinal detachment as well as functional amblyopia. If the refractive error cannot be corrected well and the resultant ametropic amblyopia does not respond to conservative management, early surgery should be considered. If the lens is subluxated so that the edge of the lens approaches to within 0.3 to 2.3 mm of the center of the pupil (with best correctable vision still phakic), this is highly probable.

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

PURPOSE: To characterize the phenotype of Bardet-Biedl syndrome (BBS) patients homozygous for the BBS1 M390R mutation. METHODS: Three patients [PT1, F, 27 years old (yo) at last examination, 14-year follow-up (F/U) PT2, F, 15-yo PT3, M, 15-yo, both 1-year F/U] underwent eye exams, Goldmann visual fields (GVFs), dark- (DA) and light-adapted (LA) electroretinograms (ERGs), spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF). Vision and systemic history were also collected. RESULTS: All patients had night blindness, hyperopic astigmatism, ptosis or mild blepharospasm, foot polydactyly, 5th finger clinodactyly, history of headaches, and variable, diet-responsive obesity. Two had asthma, PT1 was developmentally delayed, PT2 had Asperger-like symptoms, and PT3 had normal cognition. At age 14, acuity was 20/100 in PT1, who had nystagmus since age 2, 20/40 in PT2 and 20/30 in PT3. By 27yo PT1 progressed to 20/320, by 15 yo PT2 was 20/60 and PT3 remained stable. PT1 had well preserved peripheral GVFs, with minimal progression over 10 years of F/U. PT2 and PT3 presented with ring scotomas and I4e<5°. All patients had severe generalized visual sensitivity depression. ERGs were consistently recordable (also rod ERG in PT3 after 60 min DA), but progressed to non-recordable in PT1. Mixed DA ERGs exhibited electronegativity. In PT3, this was partly due to a bleaching effect during bright-flash DA averaging, partly to ON≫OFF LA response compromise. PT2 and 3 had, on SD-OCTs, generalized macular thinning, normal retinal lamination, and widespread photoreceptor outer/inner segment attenuation except foveally, and multiple rings of abnormal FAF configuring a complex bull's eye-pattern. PT1 had macular atrophy. All patients also had peripapillary nerve fiber layer thickening. CONCLUSIONS: The observed phenotype matches very closely that reported in patients by Azari et al. (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of important ERG response characteristics that provide insight in the pathogenesis of retinopathy in these patients. Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation.

Visual outcomes in pediatric optic pathway glioma after conformal radiation therapy.

PURPOSE: To assess visual outcome prospectively after conformal radiation therapy (CRT) in children with optic pathway glioma. METHODS AND MATERIALS: We used CRT to treat optic pathway glioma in 20 children (median age 9.3 years) between July 1997 and January 2002. We assessed changes in visual acuity using the logarithm of the minimal angle of resolution after CRT (54 Gy) with a median follow-up of 24 months. We included in the study children who underwent chemotherapy (8 patients) or resection (9 patients) before CRT. RESULTS: Surgery played a major role in determining baseline (pre-CRT) visual acuity (better eye: P=.0431; worse eye: P=.0032). The visual acuity in the worse eye was diminished at baseline (borderline significant) with administration of chemotherapy before CRT (P=.0726) and progression of disease prior to receiving CRT (P=.0220). In the worse eye, improvement in visual acuity was observed in patients who did not receive chemotherapy before CRT (P=.0289). CONCLUSIONS: Children with optic pathway glioma initially treated with chemotherapy prior to receiving radiation therapy have decreased visual acuity compared with those who receive primary radiation therapy. Limited surgery before radiation therapy may have a role in preserving visual acuity.

Management of vertical deviations secondary to other anatomical abnormalities.

BACKGROUND AND PURPOSE: To review the surgical management of five vertical strabismus syndromes secondary to anatomical abnormalities. These syndromes are: 1) craniosynostosis; 2) "heavy eye syndrome" of high myopia; 3) Brown syndrome; 4) upshoot-downshoot in Duane retraction syndrome (DRS); and 5) antielevation syndrome after inferior oblique anteriorization. METHODS: The syndromes are presented from evolving to well-accepted surgical management practices based on review of the current literature. RESULTS: Surgical management techniques discussed include: 1) excyclotorsion of the muscle cones inducing elevation in adduction craniosynostosis, and surgery to stabilize the globe vertically in adduction in this situation; 2) loop myopexy to prevent prolapse of the elongated, highly myopic eye posteriorly between the superior and lateral recti; 3) superior oblique tenotomy and lengthening procedures to address inability to elevate the adducted eye in Brown syndrome; 4)Y-splitting of the lateral rectus to stabilize the adducted globe vertically in Duane retraction syndrome; and 5) re-recession of the anteriorized inferior oblique to a position posterior to the inferior rectus insertion in anti-elevation syndrome. CONCLUSIONS: The surgeon can, through careful surgical management techniques, alter the form of anatomy in these conditions and thereby provide more normally functioning binocular systems.