Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

PURPOSE: To determine the prevalence of choroidal abnormalities (CAs) and Lisch nodules (LNs) in children who met the clinical diagnostic criteria (CDC) alone and those with a molecularly confirmed diagnosis (MCD) of neurofibromatosis type 1 (NF1), and to ascertain any differences between the groups. METHODS: This was a cross-sectional observational study. All children who met the CDC and/or had MCD of NF1 and underwent eye examination were included. At least two CAs or LNs between the two eyes were set as a threshold to define the presence of either abnormality. Frequencies alongside 95% confidence intervals (CIs) were calculated. The relationship between patient age and the presence of LNs and/or CAs was estimated using logistic regression. RESULTS: The study cohort included 94 patients; CAs (64%) were more prevalent than LNs (41%) (0.22; 95% CI, 0.08-0.36; P = 0.0023). The probability of the presence of LNs was lower than that of CAs across all ages (odds ratio = 0.37; 95% CI, 0.20-0.69; P = 0.00173). CAs were exclusively found in 37% of patients and LNs in 16%; 80% had either CAs or LNs, or both. In the CDC group (n = 41), the difference in prevalence (CAs = 68%, LNs = 51%) did not attain statistical significance (0.17; 95% CI, -0.06 to 0.40; P = 0.18). In the MCD group (n = 53), the difference in prevalence (CAs = 60%, LNs = 34%) was significant (0.26; 95% CI, 0.006-0.47; P = 0.023). CONCLUSIONS: CAs were more frequent than LNs in pediatric NF1 patients regardless of age and MCD status. Combining ophthalmological exams with near-infrared imaging will increase the diagnostic reach in pediatric NF1. TRANSLATIONAL RELEVANCE: CAs detected on near-infrared imaging are objective biomarkers in NF1. They are more prevalent and detected earlier in the pediatric population compared with LNs. Hence, the presence of CAs should be routinely ascertained in children suspected with NF1.

PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.

PURPOSE: To present the scope of prenatal diagnosis and early treatment of patients with clinically heterogeneous phenotypic retinal dysplasia associated with NDP gene variants. METHODS: Retrospective. Review of electronic medical records. RESULTS: Twenty-nine-year-old woman known to carry a NDP gene variant presented to the eye clinic for consultation and risk assessment at her second pregnancy. Her 11-year-old son had bilateral retinal detachment, despite surgical treatment. The family declined prenatal testing. The patient was born full term, was examined, and underwent genetic testing after birth. He was found to have bilateral retinal avascular periphery abnormalities and preretinal hemorrhages on the left eye. The patient received bilateral laser treatment at 2 months of age. He was found to be doing well at 16 months after treatment with adequate visual acuity and flat maculae. The asymptomatic mother and maternal grandfather of the proband were found to have retinal periphery abnormalities with unremarkable posterior pole and excellent visual acuity. CONCLUSION: NDP gene variants associated with X-linked familial exudative vitreoretinopathy phenotype benefit from early treatment. Providers who take care of these patients need to monitor closely the pregnancy and delivery of a male child born to a female carrier to offer appropriate and timely treatment.

Dark without pressure retinal changes in a paediatric age group.

BACKGROUND/OBJECTIVES: We aim to describe the clinical and imaging characteristics of young children with dark without pressure- a well-defined area of dark retina in the mid periphery associated with attenuated hyperreflective outer segment bands on spectral domain OCT. SUBJECTS/METHODS: Retrospective medical chart review. We reviewed the charts and retinal images of children with dark without pressure (DWP) seen in the paediatric eye clinic that had undergone retinal imaging. RESULTS: We identified 6 children (3 males, 3 females) ranging in age from 3 to 13 years with DWP lesions. These were an incidental finding in children referred for other disorders. The lesions spared the macula and were typically in the mid-peripheral retina. In those children who could cooperate with detailed imaging, the DWP lesions were hypoautofluorecent on fundus autofluorescence imaging and OCT imaging showed reduced reflectance of the outer segments and EZ line as has been described in older children and adults. In two of the six subjects a DWP lesion appeared in an area of previously normal fundus; in no subjects did the lesion resolve over the period of follow up. CONCLUSIONS: The clinical and imaging characteristics of DWP lesions are similar in young children to those described in adults. The site of dysfunction appears to be at the level of the outer retina, but the precise cause is unknown. Recognition of this benign disorder will prevent patient anxiety and unnecessary further investigation.

Pars plana vitrectomy combined with scleral buckle versus pars plana vitrectomy for giant retinal tear.

BACKGROUND: A giant retinal tear (GRT) is a full-thickness neurosensory retinal break extending for 90° or more in the presence of a posterior vitreous detachment. OBJECTIVES: To evaluate the effectiveness and safety of pars plana vitrectomy combined with scleral buckle versus pars plana vitrectomy alone for eyes with giant retinal tear. SEARCH METHODS: We searched the Cochrane Central Register of Controlled Trials (CENTRAL; 2018, Issue 8), which contains the Cochrane Eyes and Vision Trials Register; Ovid MEDLINE; Embase.com; PubMed; Latin American and Caribbean Literature on Health Sciences (LILACS); ClinicalTrials.gov; and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP). We did not use any date or language restrictions in our electronic search. We last searched the electronic databases on 16 August 2018. SELECTION CRITERIA: We included only randomized controlled trials (RCTs) comparing pars plana vitrectomy combined with scleral buckle versus pars plana vitrectomy alone for giant retinal tear regardless of age, gender, lens status (e.g. phakic or pseudophakic eyes) of the affected eye(s), or etiology of GRT among participants enrolled in these trials. DATA COLLECTION AND ANALYSIS: Two review authors independently assessed titles and abstracts, then full-text articles, using Covidence. Any differences in classification between the two review authors were resolved through discussion. Two review authors independently abstracted data and assessed risk of bias of included trials. MAIN RESULTS: We found two RCTs in abstract format (105 participants randomized). Neither RCT was published in full. Based on the data presented in the abstracts, scleral buckling might be beneficial (relative risk of re-attachement ranged from 3.0 to 4.4), but the findings are inconclusive due to a lack of peer reviewed publication and insufficient information for assessing risk of bias. AUTHORS' CONCLUSIONS: We found no conclusive evidence from RCTs on which to base clinical recommendations for scleral buckle combined with pars plana vitrectomy for giant retinal tear. RCTs are clearly needed to address this evidence gap. Such trials should be randomized, and patients should be classified by giant retinal tear characteristics (extension (90º, 90º to 180º, > 180º), location (oral, anterior, posterior to equator)), proliferative vitreoretinopathy stage, and endotamponade. Analysis should include both short-term (three months and six months) and long-term (one year to two years) outcomes for primary retinal reattachment, mean change in best corrected visual acuity, study eyes that required second surgery for retinal reattachment, and adverse events such as elevation of intraocular pressure above 21 mmHg, choroidal detachment, cystoid macular edema, macular pucker, proliferative vitreoretinopathy, and progression of cataract in initially phakic eyes.

Ocular injury during fetal endoscopy surgery.

A premature infant born at 31 weeks' gestational age was evaluated for periocular laceration and retrobulbar hematoma secondary to injury during a percutaneous fetal procedure. He later developed optic nerve atrophy.