Kamiar Mireskandari

Prediction of visual outcomes after open globe injury in children: a 17-year Canadian experience.

PURPOSE To analyze the predictive value of ocular trauma scoring systems for open globe injury in children, to determine risk factors for poor visual outcome, and to assess circumstances under which trauma occurs. METHODS The medical records of patients <18 years of age who presented with open globe injuries from January 1992 to December 2009 were examined retrospectively. Information recorded included demographic profile; date, time, and place of injury; cause and extent of injury; complications; and final best-corrected visual acuity. Injuries were classified by Ocular Trauma Classification Group guidelines. RESULTS A total of 131 patients were included. Final best-corrected visual acuity was ≥20/40 in 74 patients (56.5%) after mean follow-up of 24.8 months. Injuries occurred more commonly in boys (98/131), and 45% of injuries occurred in children aged ≤5 years (P = 0.001). Injuries were more common indoors (P = 0.003), in the afternoon (P < 0.001), and on Saturdays and Mondays (P = 0.004). Multiple regression analysis identified risk factors for final best-corrected visual acuity <20/40: age <5 years, injuries with retrolimbal involvement, wound length >5 mm, globe rupture, vitreous hemorrhage, and retinal detachment (P < 0.05). CONCLUSIONS Visual outcomes after pediatric open globe injury in this study compare favorably to results reported previously. Knowledge of weekly fluctuations in occurrence may help guide development of prevention strategies. Age <5 years is an independent risk factor for a poorer outcome. The ocular trauma score is useful in assessing prognosis after pediatric open globe injury.

Utilisation of an outpatient sedation unit in paediatric ophthalmology: safety and effectiveness of chloral hydrate in 1509 sedation episodes

Objective To report the largest study on the safety and effectiveness of sedation in paediatric ophthalmology in a nurse-led outpatient sedation unit. Design Retrospective cohort study reviewing all children who underwent sedation from January 2006 to December 2010. Patients were sedated with 80 mg/kg of chloral hydrate (CH) given orally with top up dose given at half dose as required. All demographic data, sedation and procedure duration, sedation success and adverse events were recorded. Univariate and multiple regression analyses were performed to assess factors associated with success and complications. Results Data was collected for 1509 sedation episodes. More boys were sedated compared with girls (56.3% vs 43.7% p=0.0003) with an average age of 23.86 months and weight of 11.76 kg. A higher proportion of patients had an American Society of Anaesthesiologists status of II than I (58.5%:41.5%, p=0.0001). Successful sedation was obtained in 96.69% of children with 4.77% requiring a top up dose to achieve this. The average sedation duration was 53.4 min (SD=21.5) with an average of 1.7 procedures performed; the most common being a detailed examination (93.5%) and electroretinogram (45.1%). Adverse events included paradoxical reaction (1.33%), oxygen desaturation (0.99%) and vomiting (0.53%). There were no serious complications or hospital admission. Multiple logistic regression analysis found weight greater than 15 kg and needing a top up dose to be significant risk factors for Failure (OR=2.49 and 8.69, respectively) and Adverse events (OR=2.1 and 3.97, respectively). Sex and American Society of Anesthesiologists Physical Status score did not significantly affect outcomes. Conclusions CH sedation allows detailed examination and investigations in the majority of children with few side effects. Patients over 15 kg and need for a top up dose are risk factors for failure and adverse events. This is the largest study in the current literature looking at the use of CH sedation in ophthalmology and confirms its safety and effectiveness.

Corneal Fine Needle Diathermy With Adjuvant Bevacizumab to Treat Corneal Neovascularization in Children.

Purpose: To report the outcomes of corneal fine needle diathermy (FND) with adjuvant intrastromal and subconjunctival bevacizumab injection for corneal neovascularization (CN) in children. Methods: Medical records of all children who had undergone FND with adjuvant bevacizumab injection were reviewed retrospectively. Treatment efficacy was evaluated by changes in visual acuity, regression of CN, and clearing of lipid deposits with the aid of slit-lamp color images that were taken before surgical intervention and at last follow-up visit. Postoperative complications were recorded and served to assess the safety of the procedure. Results: Nine eyes of 9 patients were included in the study. The mean age of the patients was 8.4 ± 4.2 years (4–15 years) and the mean follow-up time was 18.7 ± 12.2 months (5–35 months). Three eyes had a history of herpes simplex keratitis (HSK), 3 eyes had complete corneal anesthesia, 2 eyes had CN following suture tract infection after corneal transplant for HSK scar and limbal dermoid excision, and 1 eye had blepharokeratoconjunctivitis. After treatment, 8 eyes had complete CN resolution, and 1 eye with corneal anesthesia following brain tumor resection had partial regression in vessel distribution and size. Lipid deposition clearance lagged behind CN resolution. Mean duration of CN before treatment was 15.3 ± 14.0 months (1–37 months). Mean corrected distance visual acuity before and after surgery was 0.66 ± 0.31 and 0.50 ± 0.37 logMAR, respectively (P = 0.02). Conclusions: Corneal FND with adjuvant bevacizumab injection is effective at treating sectorial corneal vessels in children.

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing. The targeted sequencing of AP3B2 in 86 unrelated individuals with EOEE led to the identification of an additional family. We gathered five additional families with eight affected individuals through the Matchmaker Exchange initiative by matching autosomal-recessive mutations in AP3B2. Reverse phenotyping of 12 affected individuals from eight families revealed a homogeneous EOEE phenotype characterized by severe developmental delay, poor visual contact with optic atrophy, and postnatal microcephaly. No spasticity, albinism, or hematological symptoms were reported. AP3B2 encodes the neuron-specific subunit of the AP-3 complex. Autosomal-recessive variations of AP3B1, the ubiquitous isoform, cause Hermansky-Pudlak syndrome type 2. The only isoform for the δ subunit of the AP-3 complex is encoded by AP3D1. Autosomal-recessive mutations in AP3D1 cause a severe disorder cumulating the symptoms of the AP3B1 and AP3B2 defects.

Long-Term Corneal Endothelial Cell Counts After Penetrating Keratoplasty in Infants.

Purpose: To report long-term endothelial cell counts after penetrating keratoplasty (PKP) in infants. Methods: The charts of all children who have undergone PKP in their first year of life between 1998 and 2013 at the Hospital for Sick Children, Toronto, Canada, were reviewed retrospectively. Patients who had a single successful transplant with a valid endothelial cell density (ECD) analysis postsurgery were included in the study. Donor ECDs were provided by a local eye bank. Specular microscopy images were taken at a variable interval after surgery using a noncontact specular microscope (ROBO, Konan; Konan Medical) and endothelial cell loss was calculated. In young children images were taken in the lateral decubitus position under general anesthesia. Results: Twenty-one eyes of 16 patients were included in the study. Median patient age at the time of surgery was 2.0 months [mode, 2.0; interquartile range (IQR), 1.6–2.6 months] and median follow-up time was 49.0 months (IQR, 33.0–99.5 months). The most common indication for surgery was Peters anomaly, in 16 eyes (76.2%). Ten eyes had additional intraocular surgeries posttransplant. The median ECDs prekeratoplasty and at last follow-up were 2958 cells per square millimeter (IQR, 2807–3205 cells/mm2) and 1307 cells per square millimeter (IQR, 946–1613 cells/mm2) respectively, reflecting a median endothelial cell loss of 59.2% (IQR, 44.3%–68.8%). Iris adhesions to the graft–host junction were strongly associated with low final ECD (P = 0.01). Conclusions: Despite technical challenges and difficult postoperative care, pediatric keratoplasty is associated with a lower endothelial cell loss over time compared with that reported in adults after PKP.

Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.

Ocular anomalies have been frequently reported in Noonan syndrome. Anterior segment anomalies have been described in 57% of PTPN11 positive patients, with the most common findings being corneal changes and in particular, prominent corneal nerves and cataracts. We report on a neonate with a confirmed PTPN11 mutation and ocular findings consistent with Axenfeld anomaly. The patient initially presented with non‐immune hydrops and subsequently developed hypertrophic cardiomyopathy and dysmorphic features typical of Noonan syndrome. While a pathogenic mutation in PTPN11 was confirmed, prior testing for the two common genes associated with Axenfeld–Rieger syndrome, PITX2, and FOXC1 was negative. This finding expands the spectrum of anterior chamber anomalies seen in Noonan syndrome and perhaps suggests a common neural crest related mechanism that plays a critical role in the development of the eye and other organs.