We present the case of an infant with rapidly progressing orbital tumor that had initial radiological and clinical features of both rhabdomyosarcoma and capillary hemangioma. The patient was eventually diagnosed with malignant rhabdoid tumor of the orbit. We discuss the salient histological and radiological features of our case and review the literature on orbital malignant rhabdoid tumors.
To report a novel surgical technique to correct excyclotropia, consisting of a superior oblique anterior fibers plication (SOAFP) with or without a hemihangback anterior knot, allowing access for postoperative adjustment.
A retrospective interventional case series was conducted. Fourteen patients, 21-92 years of age, underwent SOAFP (18 eyes, 14 eyes on adjustable), at the Mayo Clinic in Rochester, Minnesota. SOAFP was the only procedure performed in 12 eyes; in 6 it was performed in conjunction with up to four horizontal rectus muscle recession, resection, and/or plication. Ocular alignment was assessed with prism and alternate cover and double Maddox rod tests; preoperatively, at initial and final (closest to 6-8 weeks) postoperative visits.
Preoperative torsion ranged from 2° to 30° of extorsion (mean, 10.14 ± 7.01). A SOAFP of 2–30 mm (mean, 8.93 ± 5.63) was performed. At the initial postoperative examination, mean intorsional shift was 11.18 ± 7.37, accounting for 1.86° ± 1.04° of correction per millimeter of plication. Three eyes were adjusted after the initial visit to obtain a stronger plication effect targeting of 5° intorsion. At the final visit, 61 ± 23 days postoperatively, mean extorsion was 1.21° ± 2.29°, ranging from 5° of extorsion to 3 of intorsion. Mean final intorsional shift was 9.14 ± 7.53°, accounting for a 1.16 ± 0.50° of correction per millimeter of plication. Of our 14 patients, 13 had improvement in diplopia.
In our study cohort, SOAFP allowed for targeted and easily adjustable correction of extorsion.
NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder, polyneuropathy, and hypo- or alacrima. We characterized the full spectrum and evolution of the ocular phenotype in a prospective natural history of NGLY1 deficiency.
We collected ophthalmological data on 29 individuals with NGLY1 deficiency in a natural history study. Medical records were reviewed to confirm caregiver-reported symptoms. Of the 29, 15 participants appeared for at least one ophthalmological examination.
Caregivers reported at least one ocular sign or symptom in 90% of participants (26/29), most commonly decreased tears, refractive error, and chronic infection. Daily eye medication, including artificial tears, ophthalmic ointment, and topical antibiotics were used by 62%. Ophthalmological examination confirmed refractive errors in 93% (14/15) and corneal abnormalities in 73% (11/15).
Given nearly universal hypolacrima and additional prominent ocular findings in NGLY1 deficiency, a targeted ocular history and ophthalmologic examination may facilitate prompt diagnosis and early initiation of preventive eye care, preserving vision and overall ocular health.
To assess the feasibility and performance of Vivid Vision Perimetry (VVP), a new virtual reality (VR)–based visual field platform.
Children 7-18 years of age with visual acuity of 20/80 or better undergoing Humphrey visual field (HVF) testing were recruited to perform VVP, a VR-based test that uses suprathreshold stimuli to test 54 field locations and calculates a fraction seen score. Pearson correlation coefficients were calculated to evaluate correlation between HVF mean sensitivity and VVP mean fraction seen scores. Participants were surveyed regarding their experience.
A total of 37 eyes of 23 participants (average age, 12.9 ± 3.1 years; 48% female) were included. All participants successfully completed VVP testing. Diagnoses included glaucoma (12), glaucoma suspect (7), steroid-induced ocular hypertension (3), and craniopharyngioma (1). Sixteen participants had prior HVF experience, and none had prior VVP experience, although 7 had previously used VR. Of the 23 HVF tests performed, 9 (39%) were unreliable due to fixation losses, false positives, or false negatives. Similarly, 35% of VVP tests were unreliable (as defined by accuracy of blind spot detection). Excluding unreliable HVF tests, the correlation between HVF average mean sensitivity and VVP mean fraction seen score was 0.48 (P = 0.02; 95% CI, 0.09-0.74). When asked about preference for the VVP or HVF examination, all participants favored the VVP, and 70% were “very satisfied” with VVP.
In our cohort of 23 pediatric subjects, VVP proved to be a clinically feasible VR-based visual field testing, which was uniformly preferred over HVF.
The modified Nishida muscle transposition procedure, in which one-third of each vertical rectus muscle belly is sutured onto the sclera in the infero- and superotemporal quadrants without either tenotomy of the vertical rectus muscles or splitting of the vertical rectus muscle is an effective treatment for abducens nerve palsy. We report a case of inferior rectus muscle aplasia treated using the modified Nishida procedure to transpose both horizontal rectus muscles inferiorly combined with superior rectus tenotomy.
Hemodynamically significant patent ductus arteriosus (hsPDA) shunt may predispose infants to retinopathy of prematurity (ROP) because of its higher preductal cardiac output and blood oxygen content, which may augment ocular oxygen delivery.
A retrospective cohort study of preterm infants, born at <27 weeks’ gestation and admitted at <24h postnatal age to a large quaternary referral was conducted. The primary composite outcome was death at <32 weeks or moderate-to-severe ROP (≥stage 2 or requiring treatment) in either eye. Secondary outcomes included ROP requiring treatment, and any ROP. Univariate analysis of patient characteristics and outcomes was performed as well as logistic regression. A receiver operating characteristics curve was generated for the outcome of ROP ≥stage 2 or requiring treatment.
A total of 91 patients were screened, of whom 86 (54 hsPDA, 32 controls) were eligible for inclusion. hsPDA patients were younger and lighter at birth and had a higher burden of hyperglycemia and respiratory illness. The rates of the composite outcome (death <32 weeks or moderate-to-severe ROP) and of any ROP were more frequent in the hsPDA group. hsPDA shunt exposure was independently associated with development of any ROP among survivors to assessment (P = 0.006). PDA cumulative exposure score of 78 (clinical equivalent = 7 days high-volume shunt exposure) predicts moderate-to-severe ROP with 80% sensitivity and 78% specificity.
Among infants <27 weeks, hsPDA shunt is associated with increased risks of a composite outcome of death or moderate-to-severe ROP, as well as ROP of any stage. Shunt modulation as a strategy to reduce ROP represents a biologically plausible avenue for investigation.
To study the fellow eyes of patients with unilateral primary congenital glaucoma (PCG) using optical coherence tomography angiography (OCTA) and compare them to normal age- and refractive error–matched healthy controls.
Using OCTA, the foveal avascular zone (FAZ) area, cup:disk ratio, vessel density (VD) of the optic nerve head (ONH) and peripapillary area and the macular VD in superficial (SCP) and deep vascular complexes in both 3 mm and 6 mm scans of both groups were compared. Clinical data included best-corrected visual acuity (BCVA), cycloplegic refraction, intraocular pressure (IOP), anterior and posterior segments examination findings, including ONH cup:disk ratio.
A total of 48 eyes of 48 children (24 eyes in each group) were included. There was no difference in the mean retinal nerve fiber layer thickness, cup:disk ratio, baseline visual acuity, or spherical equivalent between groups (P > 0.05). In the 3 mm macular scan, the VD of the SCP at the fovea was significantly higher in the PCG group compared to controls (P = 0.04). In the ONH scans, there was a significantly reduced inside the disk VD in the PCG group compared to controls (P = 0.03). There was no significant difference in other macular and ONH vascular parameters between groups (P > 0.05).
In our study cohort, there was no difference in most of the macular and ONH vascular parameters between groups. However, the fellow eyes of PCG patients exhibited higher VD of the SCP at the fovea and reduced inside the disk VD compared with control eyes.
To report the long-term clinical and endothelial cell count (ECC) results of lensectomy with primary anterior chamber iris claw lens implantation in the eyes of patients ≤18-year-old with ectopia lentis due to Marfan syndrome.
The medical records of Marfan patients operated on at a single institution from September 2007 to August 2020, with minimum follow-up of 2 years, were reviewed retrospectively. The following data were analyzed: sex, age at surgery, indication for surgery, the position of the lens in relation to the undilated and dilated pupil, corneal endothelial cell counts (ECC), peri- and postoperative complications, pre- and postoperative best-corrected visual acuity.
A total of forty-two eyes of 23 patients (12 girls and 11 boys) were included. At least two or more postoperative ECCs were collected from 33 eyes (17 patients). Median age at IOL implantation was 6.1 years (range, 1.8-18). Median overall follow-up time was 6.2 years (range, 2-13.5). Median ECC follow-up time was 6.2 years (range, 2-10). Mean best-corrected visual acuity was 0.71 ± 0.38 logMAR before surgery and 0.02 ± 0.25 logMAR at final follow-up. The mean annual ECC decline was 0.71% ± 2.24. Total cell loss from first to last postoperative measurement was 150 cells ± 394 cells/mm2 (4.81%). Pre- and first postoperative data were available for 17 eyes of 10 patients, with a mean cell loss before and directly after surgery of 269 ± 268 cells (7.94%). Surgery related complications were iris bombé due to blockage of peripheral iridectomy in 3 eyes and claw dislocation due to direct impact trauma in 3 eyes.
In our large, pediatric study cohort, anterior chamber iris claw IOL implantation resulted in an excellent visual outcome and normal endothelial cell loss compared with normative data. Safety measures are recommended to avoid traumatic dislocation of IOLs.
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