Apparent Diffusion Coefficient (ADC) Differentiates Retinoblastoma from Coats Disease on MRI.

PURPOSE: Coats' disease can be difficult to differentiate from retinoblastoma. While MR imaging of retinoblastoma and Coats' disease have been examined for differentiating features such as eye size, vitreous seeding, and shape of retinal detachment, there is a lack of data on apparent diffusion coefficient (ADC). ADC is a measure of the diffusion (of water molecules) within tissue, and is commonly clinically calculated using MRI DESIGN: Retrospective cross-sectional study METHODS: Patient or study population: Children <18 diagnosed with Coats disease or Retinoblastoma between 1/1/2018-8/1/2022 who had MRI imaging that was reviewable. MAIN OUTCOME MEASURE: Apparent diffusion coefficient (ADC) of the intraocular lesion. Retrospective brain MRIs were obtained from records of 5 eyes of 5 Coats' patients and 29 eyes of 23 patients with retinoblastoma. All MRIs were obtained prior to treatment. The eyedropper tool in Epic's default viewer (Ambra DICOM) was used to measure the ADC of five to eight randomly sampled points within the eye lesions seen on MRI. Average ADC was calculated for each affected eye. Internal reliability was confirmed by re-measuring mean ADC for a random sample of patients masked to their diagnosis and prior measurements. T-test was used to determine if ADC values differ between groups. RESULTS: The mean ADC for retinoblastoma patients (442 +/- 210 mm2/s) differed significantly from the mean for Coats' patients (1364 +/- 309 mm2/s), (p <.001). T-test between baseline and repeat measurements was not significantly different. Since ADC values can differ between different scanners and DW MRI pulse sequences, an ADC threshold may be difficult to generalize across institutes, in our data set a threshold of 900 mm2/s was useful in separating the two diagnoses with a high degree of accuracy. CONCLUSIONS: Clinical features of retinoblastoma and Coats' disease often resemble each other and can lead to misdiagnosis. Since ADCs are derived from diffusion-weighted MRI as an objective parameter, it has the potential to aid in establishing or confirming the diagnosis when retinoblastoma and/or Coats' disease are suspected.

Retinopathy of prematurity screening: prevalence and risk factors of ophthalmic complications in non-treated preterm infants.

INTRODUCTION: Retinopathy of prematurity (ROP) is a vision-threatening disease of premature infants. Practice guidelines recommend that all infants screened for ROP receive follow-up eye examinations to screen for ophthalmic complications.1 The purpose of this study was to identify risk factors for the development of strabismus, amblyopia, high refractive error, and cataracts among ROP-screened, non-treated infants. METHODS: Retrospective single-centre study of ROP-screened, non-treated premature infants with ophthalmic follow-up. Clinical variables were screened for association with ocular findings at follow-up. Multivariable logistic regression was used to determine the risk factors associated with ocular findings. RESULTS: 309 patients were seen for follow-up at 0.97 (0.69) [mean (SD)] years after neonatal intensive care unit (NICU) discharge. Strabismus was predicted by occipitofrontal circumference (OFC) z-score at NICU discharge (OR 0.61; 95% CI [0.42, 0.88]; p = 0.008), intraventricular haemorrhage (IVH) grade III or IV (OR 3.18; 95% CI [1.18, 8.54]; p = 0.02), and exclusive formula feeding at NICU discharge (OR 2.20; 95% CI [1.07, 4.53]; p = 0.03). Significant predictors of amblyopia were OFC z-score at discharge (OR 0.55; 95% CI [0.31, 0.96]; p = 0.03) and necrotising enterocolitis (NEC) (OR 6.94; 95% CI [1.38, 35.00]; p = 0.02). NEC was a significant risk factor for high refractive error (OR 7.27; 95% CI [1.39, 37.94]; p = 0.02). CONCLUSIONS: Among premature infants screened but not treated for ROP, severe IVH, NEC, low OFC z-score, and exclusive formula feeding at NICU discharge were risk factors for ocular morbidity. These findings affirm the value of ophthalmic follow-up for all ROP-screened infants, particularly those with the identified risk factors.

Characterization of vision in pediatric retinoblastoma survivors beyond visual acuity.

BACKGROUND: Retinoblastoma (RB) and its associated treatments can significantly impact visual acuity. However, little is known regarding other measures of vision, such as contrast sensitivity or saccades. The aim of this study was to describe contrast sensitivity and saccades in children treated for retinoblastoma. METHODS: This cross-sectional study included children aged 5-17 years who had completed treatment for RB. Visual acuity, saccades via fixation analysis, and contrast sensitivity by Cardiff contrast sensitivity were assessed, and multivariable linear regression was performed. RESULTS: Eleven children were enrolled (mean age, 10.7 ± 3.9 years). Treatment included enucleation (8 children [73%]) and chemotherapy (10 [91%]). Of the 11, one participant was unable to complete testing of saccades, and another was unable to complete contrast sensitivity testing. Decreased saccade parameters (velocity, latency, or accuracy) and impaired contrast sensitivity were observed in all 10 participants who underwent visual testing. Multivariable analysis revealed that worse logMAR visual acuity (B, -4.54 [-6.8, -2.2]; P = 0.004) and bilateral disease (B, -3.9 [-6.4, -1.4]; P = 0.009) were associated with worse contrast sensitivity. Germline disease was associated with decreased vertical saccade accuracy (P = 0.02). CONCLUSIONS: Decreased contrast sensitivity and impaired saccades were universally observed in this cohort of RB survivors. Comprehensive visual evaluation should be considered for all RB survivors to provide optimal rehabilitative services for these patients.

Eye-related quality of life and activities of daily living in pediatric retinoblastoma patients: A single-center, non-controlled, cross-sectional analysis.

INTRODUCTION: Childhood retinoblastoma (RB) survivors are known to experience long-term morbidity; however, eye-related quality of life (QoL), which may significantly impact activities of daily living (ADL), has not been extensively studied in this population. The purpose of this cross-sectional study was to assess QoL and ADL morbidity among school-age RB survivors. METHODS: The Pediatric Eye Questionnaire (PedEyeQ) and Roll Evaluation Activities of Life (REAL) were administered to childhood RB survivors between ages 5 and 17 followed at St. Louis Children's Hospital. Visual outcomes and demographic predictors of ADL and QoL were examined. RESULTS: Total 23 patients (mean age 9.6 years) consented for participation in this study. All children experienced at least one domain on the PedEyeQ ≤ 80%. Subjects and parents marked functional vision to be the most impacted domain with a median score of 82.5 and 83.4, respectively. Only 10.5% of participants scored above 75% on the ADL percentile rank. On multivariable analysis, decreased visual acuity (VA) was associated with worse "Child Functional" (odds ratio [OR] -59.2, p = .004) and "Parent Worry Function" (OR -66.5, p = .03) metrics. Decreased contrast sensitivity was associated with worse "Parent Impact" (OR 21.0, p = .02) and "Parent Worry Function" (OR 3.70, p = .04) metrics. Longer saccade horizontal latency was associated with a worse "Parent Worry Function" metric (OR 43.0, p = .009). On multivariable analysis, no variable was significantly associated with ADL. CONCLUSION: RB survivors have impaired QoL and ADL. Screening for such difficulties should strongly be considered for all RB patients. Additional studies may help predict morbidity based on visual metrics and demographic data.

Pediatric Ophthalmology Scope of Practice.

PURPOSE: To determine practice patterns of pediatric ophthalmologists with respect to types of medical conditions cared for and age of patients treated due to limited data regarding pediatric ophthalmologists' scope of practice. METHODS: A survey was sent to 1408 international and United States members of the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) membership through the group's internet listserv. Responses were collated and analyzed. RESULTS: Ninety members (6.4%) responded. 89% of respondents confine their practices to pediatric ophthalmology and adult strabismus. The percentages of respondents who provide primary surgical and medical treatment of the following conditions include 68% for ptosis and anterior orbital lesions, 49% for cataracts, 38% for uveitis, 25% for retinopathy of prematurity, 19% for glaucoma, and 7% for retinoblastoma. For conditions other than strabismus, 59% restrict their practice to patients less than 21 years of age. CONCLUSION: Pediatric ophthalmologists provide primary medical and surgical care for children with a wide variety of ocular conditions, including complex disorders. Awareness of this variety of practice might prove beneficial in encouraging residents to consider careers in pediatric ophthalmology. Consequently, fellowship education in pediatric ophthalmology should include exposure to these areas.

Congenital inner eyelid folds.

BACKGROUND: We describe the ocular findings in two infants who were found to have unusual internal eyelid folds during routine probing for nasolacrimal duct (NLD) obstruction. MATERIALS AND METHODS: Medical records review of two patients with similar eyelid folds. RESULTS: Both children had unusual eyelid folds that began on the inner eyelid adjacent to the lacrimal canaliculi and extended to a position near the caruncle. Both children had resolution of NLDO following routine surgery, suggesting that the eyelid anomalies were an incidental finding at the time of NLDO surgery. CONCLUSION: The etiology of these unusual inner eyelid folds is not certain but may represent schisis or incomplete separation of the inner eyelid margin.

SUBHYALOID HEMORRHAGE IN EVANS SYNDROME.

PURPOSE: Evans syndrome is a rare disorder characterized by autoimmune hemolytic anemia and immune thrombocytopenia. We report the first case of ophthalmic involvement in a pediatric patient with Evans syndrome, in which painless vision loss was the presenting symptom. METHOD: A 15-year-old girl presented with acute painless loss of vision in her right eye and was found to have bilateral subhyaloid hemorrhages. RESULTS: She was treated with intravenous steroids and transitioned to hydroxychloroquine. Her retinal hemorrhages resolved and her vision improved. CONCLUSION: Nontraumatic subhyaloid hemorrhage is a rare cause of vision loss in children. Evans syndrome should be considered in the differential diagnosis of such patients when hematologic abnormalities are present.

Developmental Delay and School Performance Among Retinoblastoma Survivors: Development/school morbidity among retinoblastoma survivors.

PURPOSE: The purpose of this study was to describe the academic performance of childhood retinoblastoma (RB) survivors. DESIGN: Retrospective cohort study. METHODS: Retrospective chart review of children followed in a survivorship clinic. RESULTS: A total of 73 patients with RB (median age at diagnosis: 9.97 months; range: 0.29-65.1) were followed for a median of 6.4 years (0.2-1.76). A total of 48 patients (65.8%) had unilateral RB; 43 patients (63.0%) received systemic chemotherapy; and 57 patients (78.1%) underwent enucleation. At last follow-up, 5 children (6.8%) had bilateral visual acuity (VA) <20/70. Seventeen subjects (23.3%) reported school difficulties, and 10 subjects (13.7%) had an individualized education program (IEP). Multivariate analysis revealed that a history of receiving chemotherapy" Multivariate analysis revealed that a history of receiving chemotherapy was associated with self-reported school difficulties (odds ratio [CI]: 5.44; 95% confidence interval [CI]: 1.36-21.69; P = .016), and undergoing an IEP (OR: 11.47; 95% CI: 1.34-98.16; P = .03). The degree of visual impairment and history of enucleation did not influence the risk of self-reported school difficulties or the implementation of an IEP. Among unilateral RB patients, chemotherapy was an independent risk factor for self-reported school difficulties (OR: 12.8; 95% CI: 1.45-113; P = .009) and implementation of an IEP (OR: 15.2; 95% CI: 0.78-292; P = .02). CONCLUSIONS: Academic difficulties in childhood RB survivors are associated with chemotherapy treatment, a risk factor independent of VA.

Treatment of small and medium retinoblastoma tumors with Iris diode laser.

PURPOSE: Differing techniques have been reported for focal laser therapy for patients with small and medium retinoblastoma. We report the technique used at our center; and report the functional and anatomical outcomes for small and medium retinoblastomas treated with focal laser therapy with or without systemic chemotherapy. METHODS: A retrospective case study was conducted including pediatric patients with macular retinoblastoma treated with systemic chemotherapy and laser ablation from July 1990 to July 2015 at Washington University School of Medicine/Saint Louis Children's Hospital. RESULTS: Fourteen eyes (11 patients) with small and medium retinoblastoma tumors were treated with repetitive indirect laser hyperthermia and seven of those patients were treated with systemic chemotherapy as well. Using the International Retinoblastoma classification, one eye was stage A, 10 eyes were stage B, and three eyes were stage C. The mean follow-up time was 7.7 years. There were no recurrences of tumor in the patients. Final visual acuity outcomes were 20/20 to 20/50 in four eyes, 20/60 to 20/200 in four eyes, and 20/400 or less in six eyes. None of the patients developed metastatic disease. CONCLUSIONS: The evidence for systemic chemotherapy and diode laser therapy is limited to case series and retrospective reviews, but evidence suggests that it is an effective treatment for small and medium sized retinoblastoma tumors involving the macula with the potential for good visual outcomes.

Visual Outcomes in Presumed Congenital Foveal Toxoplasmosis.

PURPOSE: Congenital macular lesions attributed to toxoplasmosis may limit potential visual acuity. The appearance and location of these scars may cause physicians to overlook associated amblyopia. This study reviews the visual outcomes and benefits of amblyopia therapy in children with foveal toxoplasmosis scars. DESIGN: Retrospective observational case series. METHODS: Setting: Single center. PATIENT POPULATION: Children with presumed foveal toxoplasmosis scars who underwent amblyopia treatment. MAIN OUTCOME MEASURE: Charts were reviewed for amblyopia treatment, fundus photographs, optical coherence tomography (OCT), and visual acuity. RESULTS: Median age at presentation was 2.8 years and median follow-up was 6.2 years. Occlusion therapy was undertaken in 9 patients. Median duration of occlusion therapy was 1.7 years. Six patients improved with occlusion therapy (average 4.6 lines gained on optotype acuity). Final visual acuity ranged from 20/25 to 20/250, with 6 of 8 patients better than 20/80. OCT confirmed macular scars in 5 patients, with varying degrees of foveal architecture disruption. CONCLUSION: Despite the striking appearance of the lesions in patients with presumed foveal toxoplasmosis, visual potential may be better than expected. The appearance of the lesions is not always predictive of visual outcome. A trial of occlusion therapy to treat amblyopia should be initiated in these patients to ensure that they reach their maximal visual potential.

Outcome of Primary Probing for Simple Membraneous Congenital Nasolacrimal Duct Obstruction in Children Older Than 4 Years.

PURPOSE: To report outcomes of nasolacrimal duct (NLD) probing in children 4 years and older with simple membranous NLD obstruction. METHODS: The records of all patients 4 years and older with congenital NLD obstruction who underwent surgery from 1997 to 2015 at Washington University School of Medicine were retrospectively reviewed. Of 47 patients reviewed, 18 (38.3%) were found to have simple membranous obstructions and were included in this study. Simple membranous obstruction was present at the distal duct and was relieved with passage of the probes in all patients. Children with canalicular or diffuse distal NLD stenosis (as defined by a tight, gritty feeling or multiple obstructions when passing the probe through the bony portion of the NLD), trisomy 21, lacrimal trauma, or craniofacial abnormalities were excluded. A successful outcome was determined by resolution of epiphora and periocular crusting. RESULTS: Eighteen patients with ages ranging from 4.1 to 10.6 years with simple membranous NLD obstruction were treated. Sixteen of 18 (88.9%) patients had good outcomes following NLD probing. Two patients had persistent symptoms that resolved following balloon dilation and stent placement. CONCLUSIONS: This study found that the success rate of probing in older patients with simple membranous NLD obstruction was comparable to that of younger patients. NLD probing alone is a good treatment option for older children with simple membranous NLD obstruction. Additional procedures such as balloon catheter dilation or stent placement may not be necessary at the time of initial probing. [J Pediatr Ophthalmol Strabismus. 2020;57(1):44-47.].

Successful treatment of an exudative choroidal hemangioma with oral propranolol in a 10-year-old boy.

A 10-year-old boy was referred for a circumscribed choroidal hemangioma with underlying exudative detachment of the left eye. To avoid general anesthetics required for laser-based therapy in a child, we began a trial of oral propranolol. The patient's exudative detachment resolved, with resulting improvement in visual acuity, and remained quiescent for 3 years.

Long-term outcomes of strabismus surgery in Mobius sequence.

Purpose: Mobius sequence is a rare disorder that results from underdevelopment of the sixth and seventh cranial nerves, with subsequent facial weakness and impairment of ocular abduction. Approximately half of the affected patients have esotropia with limitation of extraocular movements. This study retrospectively reviews the long-term outcome of strabismus surgery for such patients. Methods: The long-term follow-up results in five children with Mobius sequence, who were observed after strabismus surgery for congenital esotropia, were analyzed. Results: All patients had a limitation of abduction in both eyes. Preoperative esotropia ranged from 20 to 30 prism diopters (PD) (mean 27 PD). Patient age at surgery ranged from 4.5 to 14 months. Bilateral medial rectus muscle recession was performed in all cases, ranging from 4.0 to 6.5 mm. Inferior transposition of the medial rectus muscles was performed in two patients for treatment of V-pattern, and two patients also had surgery for vertical strabismus. Follow-up ranged from 4 to 19.5 years (mean 11.7 years). The final horizontal alignment was <8 PD in all patients, and all demonstrated some binocularity. Conclusion: Bilateral medial rectus muscle recession is an effective treatment for esotropia associated with Mobius sequence, with good long-term stability.

Infantile Exotropia and Developmental Delay.

PURPOSE: To evaluate a group of infants with this disorder to determine the long-term outcome of surgery and to assess the need for neurologic evaluations. METHODS: This interventional case series reviewed the records of infants who underwent surgery for the treatment of exotropia with onset during the first year of life. The preoperative ophthalmic and systemic findings, treatment, and developmental and ophthalmic outcomes were reviewed. Surgery was considered successful if the horizontal deviation was less than 10 prism diopters (PD). Developmental assessments were obtained at each visit. RESULTS: Twenty-six patients presented between age 2 and 10 months with exotropia ranging from 20 to 95 PD. Ten (38%) patients had a developmental delay that was recognized at the first visit, 9 of whom had a systemic diagnosis at that time; the other patients remained developmentally normal during a mean follow-up of 7 years. Age at surgery ranged from 4 to 18 months. Surgery was successful in 10 (38%) of 26 patients after 1 surgery and in an additional 13 (50%) of 26 patients after a second surgery. CONCLUSIONS: In this study, the need for more than 1 surgery was higher in infantile exotropia when compared to other forms of childhood strabismus, but most children achieved good alignment with one or two surgeries. Developmental delay is common in patients with infantile exotropia, but this was usually recognized at the time of the initial evaluation. In the current patients, routine neurologic screening or imaging of these otherwise developmentally normal infants was not required. [J Pediatr Ophthalmol Strabismus. 2018;55(4):225-228.].

Orbital Causes of Incomitant Strabismus.

Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles. This paper reviews some disorders of the orbit that are associated with strabismus, including craniofacial malformations, orbital masses, trauma, and anomalous orbital structures.

Initial management of congenital canalicular atresia.

PURPOSE: To evaluate the initial management of pediatric patients with lacrimal canalicular atresia (CA) involving the upper or lower eyelid. METHODS: The medical records of 15 children with symptoms of nasolacrimal duct (NLD) obstruction and CA of either the upper or lower eyelid treated from 1994 to 2014 were retrospectively reviewed. Surgical treatment consisted of nasolacrimal probing through the patent canaliculus. Preoperative findings, treatment, and outcomes were reviewed. Outcomes were considered good if the patients had resolution of signs and symptoms of lacrimal obstruction, fair if the symptoms improved and additional surgery was not required, and poor if additional lacrimal surgery was performed. RESULTS: CA was found in 19 eyes of 15 patients: 11 eyes had upper CA; 8 eyes, lower. All 11 eyes with upper CA improved after NLD probing through the patent lower canaliculus. Of the 8 eyes with lower CA, 4 (50%) had good outcomes and 4 eyes had poor outcomes after NLD probing through the patent upper canaliculus. All of the latter patients improved after subsequent treatment with balloon catheter dilation (BCD), monocanalicular stent placement, or both. CONCLUSIONS: If a patient is found to have upper CA during initial surgery for NLD obstruction, NLD probing through the patent lower canaliculus has a good rate of surgical success. For patients with lower CA, the success rate of NLD probing through the upper canaliculus appears to be lower. Additional treatment during the initial surgery with either BCD or monocanalicular stent placement should be considered in these patients.

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.

BACKGROUND: Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder due to mutations in the AIRE gene. AIM: To report the ocular features and characterise the retinal phenotype in molecularly confirmed APS1. METHOD: This retrospective case series reviewed five molecularly confirmed cases with APS1 known to have ocular involvement (age range: 19 months-44 years; mean follow-up of 8 years). The medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG) and antiretinal antibody results were reviewed. RESULTS: All but one case had decreased vision at first presentation. All cases had peripheral pigmentary retinal changes; macular atrophy was noted in 80% of cases. The most common feature on spectral-domain optical coherence tomography was a disruption of the external limiting membrane and inner segment ellipsoid band (n=3). Fundus autofluorescence imaging demonstrated a parafoveal ring of hyper-autofluorescence (n=1) or a stippled and patchy autofluorescence pattern in the macula (n=1). The visual fields were constricted in all tested patients (n=3). The rod ERG was abnormal in all cases; the relative involvement of rods and cones differed. Four patients who were tested for antiretinal antibodies were found positive by immunohistochemistry (n=3) and/or western blot (n=2). CONCLUSIONS: Photoreceptor degeneration is part of APS1 phenotype and the presence of antiretinal antibodies strongly supports an aetiology similar to that of non-paraneoplastic autoimmune retinopathy. Periodic retinal evaluation and imaging, visual field testing and ERG would assist in monitoring the retinopathy in APS1-related disease.

Comparison of lateral rectus muscle re-recession and medial rectus muscle resection for treatment of postoperative exotropia.

PURPOSE: To compare the outcomes of unilateral lateral rectus muscle re-recession and medial rectus muscle resection for treatment of recurrent or persistent exotropia. DESIGN: Retrospective nonrandomized clinical trial. METHODS: setting: Hospital-based clinical practice. PATIENT POPULATION: Forty patients with recurrent or persistent exotropia following bilateral lateral rectus muscle recessions. INTERVENTION: Fourteen patients were treated with unilateral medial rectus muscle resection and 26 with unilateral lateral rectus muscle re-recession. MAIN OUTCOME MEASURES: Outcomes were considered successful if the patients had deviations less than 10 prism diopters (PD) at last follow-up. All patients were followed for at least 1 year postoperatively. RESULTS: The mean preoperative deviations were 17.4 PD in the medial rectus muscle resection group and 18.1 PD in the lateral rectus muscle re-recession group. Successful outcomes were achieved in 9 of 14 patients (64%) treated with medial rectus muscle resection and 19 of 26 patients (73%) treated with lateral rectus muscle re-recession. There was no statistically significant difference between these outcomes. Mean follow-up was 4.5 years in the medial rectus muscle resection group and 2.9 years in the lateral rectus muscle re-recession group. CONCLUSIONS: Surgery on a single muscle can be used to treat moderate-angle recurrent or persistent exotropia. Unilateral re-recession of the lateral rectus muscle and medial rectus muscle resection have equivalent success rates.