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.

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.

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.

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.

Clinical characteristics and surgical approach to visually significant persistent pupillary membranes.

BACKGROUND: Infants with hyperplastic persistent pupillary membranes (PPM) may be at risk for deprivation amblyopia due to obstructions of the visual axis. We describe the long-term visual and anatomic outcomes of a surgical technique for their removal. METHODS: The medical records of consecutive patients <3 years of age who underwent surgical removal of PPMs between December 1998 and May 2012 were retrospectively reviewed. Each PPM was judged to be visually significant based on poor visual acuity, poor retinoscopic reflex, or inability to visualize the fundus. The surgical technique included injection of a viscoelastic agent beneath the pupillary strands to bow them anteriorly, careful peeling of residual adherent strands from the anterior lens capsule, and lysis of the strands at the pupillary margin with intraocular scissors. Pre- and postoperative visual and anatomic results were recorded. RESULTS: This case series included 10 eyes of 6 patients: PPMs were bilateral in 4 patients and unilateral in 2. The patient age at time of surgery ranged from 2.5 months to 2.5 years (mean, 14 months). Mean postoperative follow-up was 5.3 years (range, 2.5-8 years). All patients had successful clearance of the visual axis and good visual acuity. No intraoperative complications occurred. CONCLUSIONS: All patients in this series had excellent visual and structural outcomes, with no significant complications. The technique described here may be considered for patients with visually significant PPMs to improve visual function and pupil appearance.

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

The phenotype of recurrent ∼600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum of neurodevelopmental impairments including developmental delay and intellectual disability, epilepsy, autism and psychiatric disorders which are all subject to incomplete penetrance and variable expressivity. A variety of brain MRI abnormalities were reported in patients with 16p11.2 rearrangements, but no systematic correlation has been studied among patients with similar brain anomalies, their neurodevelopmental and clinical phenotypes. We present three patients with the proximal 16p11.2 microduplication exhibiting significant developmental delay, anxiety disorder and other variable clinical features. Our patients have abnormal brain MRI findings of cerebral T2 hyperintense foci (3/3) and ventriculomegaly (2/3). The neuroradiological or neurological findings in two cases prompted an extensive diagnostic work-up. One patient has exhibited neurological regression and progressive vision impairment and was diagnosed with juvenile neuronal ceroid-lipofuscinosis. We compare the clinical course and phenotype of these patients in regard to the clinical significance of the cerebral lesions and the need for MRI surveillance. We conclude that in all three patients the lesions were not progressive, did not show any sign of malignant transformation and could not be correlated to specific clinical features. We discuss potential etiologic mechanisms that may include overexpression of genes within the duplicated region involved in control of cell proliferation and complex molecular mechanisms such as the MAPK/ERK pathway. Systematic studies in larger cohorts are needed to confirm our observation and to establish the prevalence and clinical significance of these neuroanatomical abnormalities in patients with 16p11.2 duplications.

Comparison of the effectiveness and safety of transscleral cyclophotocoagulation and endoscopic cyclophotocoagulation in pediatric glaucoma.

PURPOSE: Among the options for surgical management of pediatric glaucoma, destruction of the ciliary body reduces aqueous production and, consequently, intraocular pressure (IOP). Compared to more invasive filtering and shunt procedures, cyclodestruction is an attractive option for control of IOP in pediatric glaucomas. METHODS: The relative reduction in IOP, duration of effect, and comparable safety and efficacy of transscleral cyclophotocoagulation (TSCP) and endoscopic cyclophotocoagulation (ECP) in pediatric patients with glaucoma was studied in this retrospective chart review. RESULTS: A reduction in IOP of 28.6% and 33.2% with TSCP and ECP, respectively, was found. Eyes treated with ECP underwent an average of 3.24 cyclodestructive procedures; eyes treated with TSCP underwent an average of 2.29 cyclodestructive treatments. These differences were not statistically significant. A final success rate of 67.6% after TSCP and 62% after ECP failed to significantly differ between the two groups. Consequently, two-thirds of the patients were able to avoid penetrating surgery and the associated risks after one or more cyclodestructive procedures. CONCLUSIONS: TSCP and ECP are safe, effective, and comparable treatments for pediatric glaucomas. The results suggest that TSCP and ECP may be considered first-line therapy to achieve control of IOP in all forms of pediatric glaucoma. [J Pediatr Ophthalmol Strabismus 2014;51(2):120-127.].

Delayed visual maturation in otherwise normal infants.

BACKGROUND: Children may present in early infancy for evaluation of decreased visual responsiveness. Most such infants have systemic or ocular abnormalities that explain their poor fixation and tracking. Some infants, however, have no other medical or ocular problems. This study evaluated prognostic factors in this latter group of otherwise normal infants with decreased visual responsiveness. METHODS: This was a retrospective cohort study in which medical records of infants evaluated for decreased visual responsiveness were reviewed to identify children who had no history of premature birth or systemic problems associated with developmental delay. Examination findings that were predicted to indicate a good prognosis included: the presence of some reaction to light, normal pupil responses, no nystagmus, and no structural ocular abnormalities. Follow-up information was obtained from office visits and telephone interviews. Main outcome measures were visual acuity and developmental status. RESULTS: Thirty-two children met the criteria noted above. Six were excluded due to lack of follow-up. Four were normal by the time of their initial examination. Follow-up for the remaining patients ranged from 3 months to 11 years (mean 2.94 years). One patient developed strabismus and required surgery. The remaining patients all had normal vision and development. CONCLUSIONS: Otherwise normal infants who present for evaluation of decreased visual responsiveness have a good prognosis if they have some reaction to light, normal pupil responses, absence of nystagmus, and no structural ocular abnormalities. The developmental prognosis for these infants appears to be good. Additional testing at the time of initial evaluation is not indicated.

Oblique muscle surgery for treatment of nystagmus with head tilt.

BACKGROUND: Patients with nystagmus may adopt an abnormal head posture if they have a null zone in eccentric gaze. These patients uncommonly present with torticollis due to a null zone when the head is tilted. We describe the results of surgery on the oblique muscles to improve the abnormal head posture in this condition. METHODS: This was a retrospective review of patients who had head tilts due to null zones of nystagmus. Surgery consisted of an anterior 50% tenectomy of the superior oblique tendon on one side and recession of the inferior oblique muscle to a position 6 mm posterior to the insertion of the inferior rectus muscle on the contralateral side. The patients' clinical histories and outcomes were reviewed. RESULTS: Six patients underwent the procedure. Of these, four had infantile nystagmus syndrome and two were born prematurely and had histories of intraventricular hemorrhages. Five of the patients had previous Kestenbaum surgery that corrected the horizontal component of their abnormal head postures. Age at time of surgery for the head tilt ranged from 3 to 13 years. Postoperative follow-up ranged from 1.5 to 3 years. The preoperative head tilts ranged from 25° to 45° (mean, 39°). The postoperative improvement ranged from 20° to 40° (mean, 28°). One of the patients with a history of intraventricular hemorrhage required additional surgery for strabismus unrelated to nystagmus. CONCLUSIONS: Anterior tenectomy of the superior oblique tendon combined with contralateral recession of the inferior oblique muscle improved head tilts related to a null zone of nystagmus.

Long-term results of botulinum toxin-augmented medial rectus recessions for large-angle infantile esotropia.

PURPOSE: To evaluate the long-term results of medial rectus recessions augmented by botulinum toxin injection for treating infants with large-angle (> 60 prism diopters [PD]) infantile esotropia. DESIGN: Interventional case series. SETTINGS: Hospital-based clinical practice. PATIENT POPULATION: Twenty-three patients with large-angle infantile esotropia who were followed for at least 2 years postoperatively. INTERVENTION: Surgical treatment with botulinum toxin in addition to bilateral medial rectus muscle recessions. The preoperative findings, treatment, and outcomes were reviewed. MAIN OUTCOME MEASURES: Surgery was considered successful if the patients did not require additional horizontal strabismus surgery and had less than 10 PD of horizontal deviation. RESULTS: The age at surgery ranged from 4 to 36 months (mean 14.5 months) and the angle of esotropia ranged from 65 to 100 PD (mean 72 PD). Treatment was successful in 17 of 23 patients (74%), with follow-up of 2 to 13 years (mean 6.6 years). CONCLUSION: Botulinum toxin-augmented medial rectus recession is an effective treatment for large-angle infantile esotropia, with stable results over time.

The association of neonatal dacryocystoceles and infantile dacryocystitis with nasolacrimal duct cysts (an American Ophthalmological Society thesis).

PURPOSE: To investigate whether neonatal dacryocystoceles and dacryocystitis are associated with nasolacrimal duct cysts, and to report the outcomes of treatment of these disorders. METHODS: This was a retrospective medical record review of two groups of infants with nasolacrimal duct (NLD) obstruction. The first group had dacryocystoceles with or without dacryocystitis. The second group had NLD obstruction with symptoms severe enough to require early NLD probing. All of the patients underwent NLD probing and nasal endoscopy. When present, NLD cysts were removed. RESULTS: In the first group, 33 infants had dacryocystoceles. Acute dacryocystitis was present in 16 patients, 12 had noninfected dacryocystoceles that did not resolve, and 5 had dacryocystoceles that resolved but severe symptoms persisted. All of the patients had NLD cysts that were surgically removed. The symptoms resolved after surgery in 31 patients (94%). In the second group, 27 infants less than 6 months old without dacryocystoceles underwent early NLD probing and endoscopy due to severity of symptoms. Twelve (44%) of these patients had NLD cysts. The symptoms resolved in 11 (92%) of 12 patients following NLD probing and cyst removal. CONCLUSIONS: Neonatal dacryocystoceles are almost always associated with NLD cysts. The success rate of NLD probing and endoscopic cyst removal in these patients is excellent. Nasolacrimal duct cysts also are present in many young infants with severe symptoms of NLD obstruction. Nasal endoscopy is an important adjunct to the management of these infants.