Iris anomalies and the incidence of ACTA2 mutation.

BACKGROUND: Central cysts of the iris pigment epithelium, or iris flocculi, are frequently reported in the literature in association with thoracic aortic aneurysm and dissection due to smooth muscle alpha-actin 2 (ACTA2) mutations. Children with ACTA2 mutations may also present with congenital mydriasis. We report our experience regarding the frequency of ACTA2 mutation in children with the above iris anomalies. METHODS: This is a retrospective, consecutive case series of all children presenting for iris flocculi or congenital mydriasis at a single tertiary centre from October 2012 to December 2016. RESULTS: 13 children with iris flocculi and 3 with congenital mydriasis presented during the study period. 10 children with iris flocculi completed genetic testing, and none were positive for ACTA2 mutation. All children with congenital mydriasis presented with a multisystem smooth muscle dysfunction syndrome; two of these three children tested positive for missense R179 ACTA2 mutations. CONCLUSIONS: In this series, ACTA2 mutation or copy number variation was not detected in children presenting for iris flocculi, whereas congenital mydriasis was associated with R179 mutation in both cases that tested positive for ACTA2 mutation. The case of congenital mydriasis without typical cardiac features of the R179 ACTA2 phenotype or intracranial vasculopathy was negative for ACTA2 mutation. While all children presenting with these iris anomalies should be offered a genetic evaluation, incidence data should inform genetic counselling, particularly in the absence of a family history of aneurysm or sudden death, or systemic signs of smooth muscle dysfunction.

Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.

BACKGROUND: Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features. MATERIALS AND METHODS: We conducted a retrospective case series study of patients diagnosed with PCARP and genetic testing positive for FLVCR1 mutation between 1 January 2015 and 1 October 2017 at the Children's Hospital of Pittsburgh. Clinical charts, visual fields, fundus autofluorescence, and spectral-domain optical coherence tomography (SD-OCT) were reviewed. RESULTS: Seven patients from three families were identified to have PCARP and FLVCR1 mutation. The median age at presentation was 13 years (range, 7-28 years). Common clinical exam findings were astigmatism, cataracts, and vitreous syneresis. Funduscopy on all patients revealed bull's eye maculopathy, retinal vessels attenuation, and bone spicule changes in the peripheral retina. Fundus autofluorescence showed bilateral hyperautofluorescent rings. SD-OCT demonstrated morphological changes, which differed based on age. The youngest sibling family exhibited peripheral loss, but subfoveal preservation of the outer retinal layers. These layers were lost in the oldest sibling family. Visual fields loss paralleled SD-OCT findings. CONCLUSION: There is limited published ophthalmic data on FLVCR1-related PCARP. We describe clinical and retinal imaging features in the one of the largest cohorts of affected patients in the literature. Given the availability of genetic testing for this phenotype, testing for FLVCR1 mutations should be considered in pediatric and adult patients with sensory ataxia and retinitis pigmentosa.

Apparent Diffusion Coefficient (ADC) of the vitreous humor and Susceptibility Weighted Imaging (SWI) of the retina in abused children with retinal hemorrhages.

This study speculated that the apparent diffusion coefficient (ADC) of the vitreous humor might be altered in the setting of abusive head trauma (AHT) with retinal hemorrhages (RH). Fourty-four subjects were analyzed (n=20 AHT cases; n=24 controls). There was no statistically significant difference in normalized ADC values between the cases and controls (-0.14 and -0.08 respectively, p=0.46), but analysis of RH by susceptibility weighted imaging (SWI) compared to dilated funduscopic exam demonstrated statistically significant correlation (p=0.003 and 0.012). Our results suggest that SWI serves as a more sensitive diagnostic tool for detection of ocular injury in AHT than ADC.

Management of Descemet Membrane Detachment After Forceps Birth Injury.

PURPOSE: To describe the clinical signs of Descemet membrane (DM) detachment due to forceps-related birth injury and its subsequent management using optical coherence tomography. METHODS: Case report. RESULTS: A 3-day-old term infant presented with left eye corneal clouding and a definitive history of traumatic forceps-assisted delivery. Despite topical therapy, corneal clouding persisted, necessitating an examination under anesthesia using ultrasound and handheld optical coherence tomography. This revealed not only a tear in DM but also a large detachment. Injection of air alone failed to achieve apposition of DM to the posterior stroma. Apposition was achieved only after penetration of the overlying cornea with the needle of a 10-0 nylon suture and release of clear viscous fluid. The cornea cleared within the first week and continued in the months to follow. CONCLUSIONS: Prolonged corneal edema should alert the physician to probable DM detachment after forceps-related birth injury. Injecting air alone may not be sufficient to reattach the detached DM.

Bilateral congenital lacrimal fistulae: a case report.

A congenital lacrimal fistula is a rare developmental anomaly, usually unilateral. While it is often asymptomatic, some patients present with epiphora or discharge. We report the case of a 4-year-old boy with bilateral lacrimal fistulae. No other systemic, nasal, or ocular anomalies were found. In the absence of significant symptoms, we decided on a course of observation. In this article, we discuss the embryologic basis of congenital lacrimal fistulae, as well as the typical presentation and possible treatment modalities. The presence of a lacrimal fistula is an indication to search for a variety of underlying systemic and ocular anomalies.

Bilateral congenital lacrimal fistulae: a case report and review of the literature.

The lacrimal system is comprised of the lacrimal glands for tear production and the lacrimal drainage system for draining tears away from the eyes. Congenital lacrimal system anomalies other than nasolacrimal duct obstruction are uncommon. Congenital lacrimal fistulae are a rare developmental anomaly, and when they occur, they are usually unilateral. Fistulae and diverticulae can originate from the canaliculus, lacrimal sac, or nasolacrimal duct. They can be seen externally as small orifices or pits located inferior and/or medial to the medial canthi. These anomalies are often asymptomatic and may go undetected. However, they can also present with epiphora or discharge. We report the case of a 4-year-old male with bilateral congenital lacrimal fistulae. The patient presented to our clinic after his parents discovered bilateral pits located inferior and medial to the medial canthi. The pits had first been noticed only a few weeks prior to presentation. There was no history of drainage or infection. The diagnosis of bilateral congenital lacrimal fistulae was confirmed with computed tomographic imaging. No other systemic, nasal, or ocular anomalies were found. The patient was referred to pediatric ophthalmology and because the lacrimal fistulae have been asymptomatic to this point, it was decided to proceed with a course of observation. We will discuss the embryologic basis for congenital lacrimal fistulae, as well as the typical presentation and possible treatment modalities. The presence of lacrimal fistulae is an indicator to search for a variety of underlying systemic and ocular anomalies.

Retinopathy of prematurity.

Retinopathy of prematurity (ROP) is a rapidly evolving area of pediatric ophthalmology. Over the past decade, a new understanding of the pathophysiology of ROP has emerged. Advances in clinical research have lead to modifications in screening criteria and treatment guidelines for ROP. With this knowledge, new treatment modalities such as anti-angiogenic agents are being investigated. This review will highlight some of the current concepts related to ROP.

Optic-nerve gliomas, chiasmal gliomas and neurofibromatosis type 1.

PURPOSE OF REVIEW: To review the most recent literature describing the natural history and disease progression patterns of optic-pathway gliomas in neurofibromatosis type 1 (NF1) patients. To aid in clarifying the current treatment patterns and follow-up recommendations. RECENT FINDINGS: Contrary to prior documentation, current literature reveals that optic-pathway gliomas in NF1 can be diagnosed after the age of 6, and may progress until the age of 12. The disease progression occurs most frequently in the first two years following diagnosis. SUMMARY: Optic-pathway gliomas in NF1 can display a variety of manifestations and exhibit an unpredictable disease course. No specific characteristics have been found thus far to predict an aggressive compared with indolent disease course. Recently primary diagnoses of optic-pathway gliomas have been made in children aged six or older, and have been shown to progress until the age of 12. Although large-scale studies are required to change current follow-up recommendations, the data suggest that NF1 patients should be vigilantly evaluated for optic-pathway gliomas past the age of 12.