Best's vitelliform macular dystrophy in 10- and 31-month-old siblings

There are limited reports of Best's disease in children younger than 3 years. This is a case series of two family members aged 10 and 31 months with Best's disease. To the authors' knowledge, the 10-month-old male infant is the youngest patient with Best's disease documented by fundus photography

Bilateral fluorescein angiographic findings in unilateral Coats' disease

Two patients with clinically unilateral Coats' disease were imaged with fluorescein angiography during an examination under anesthesia. Both patients were found to have abnormal retinal vasculature in their contralateral eye. These findings may represent a previously unrecognized bilateral component of Coats' disease

Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings

Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are classified as distinct diseases; however, emerging genetic research and fluoresce-in angiographic evidence suggest a margin of overlap between the two. PATIENTS AND METHODS This was an institutional review board-approved, retrospective case series. A literature review was performed, and medical records of all pediatric patients who underwent examination under anesthesia and laser for FEVR at the Bascom Palmer Eye Institute Pediatric Retina Service by one of the authors (AMB) from Jan. 1, 2006, to June 30, 2013, were analyzed retrospectively. Nine infants born prematurely had fluorescein angiograms and a clinical course most consistent with FEVR. Angiographic findings included irregular sprouts of vascularization at the vascular/ avascular junction, distinct pruning of vessels, pinpoint areas of hyperfluorescence, and segmental areas of vascular leakage. The authors propose a classification of ROPER (ROP vs. FEVR) to more accurately stratify these patients. Identification of this subset of patients will allow for sustained surveillance of infants with ROPER who demonstrate a continuing risk of disease activity

Familial exudative vitreoretinopathy in a premature child

Many of the clinical features associated with familial exudative vitreoretinopathy (FEVR) overlap with those commonly found in retinopathy of prematurity (ROP). Differentiating these two distinct entities may be challenging in premature infants. FEVR can be distinguished from ROP in that the former demonstrates exudates on examination and tends to recur or reactivate. The authors report the case of a premature infant diagnosed with FEVR and treated with diode laser who was subsequently lost to follow-up. Upon re-establishing care 3 years later, the patient demonstrated renewed bilateral vitreoretinopathy. This manuscript underscores the importance of accurate distinction between FEVR and ROP for the purpose of optimal patient management

Retinoschisis in the Setting of Coats’ Disease

This is a report of a 5-year-old boy who presented with an exudative retinopathy consistent with Coats' disease. Optical coherence tomography confirmed the concurrent presence of retinoschisis in the same eye, adjacent to the areas of exudation and ischemia. Treatment with laser photocoagulation, corticosteroids, and anti-VEGF therapy led to the resolution of the schisis cavity 1 year later. This represents the second published account of retinoschisis in the setting of Coats' disease

Congenital optic nerve pit in trisomy 18

The authors report the first case of trisomy 18 associated with a clinically detectable optic nerve pit. A female infant with a birth weight of 2,150 g was born by cesarean section to a healthy 40-year-old woman at 38 weeks of gestation. Trisomy 18 had been diagnosed by prenatal genetic testing. Ophthalmologic examination was remarkable for bilateral narrowed palpebral fissures with punctal agenesis, corectopic pupils without reaction to light, bilateral inferior peripapillary retinochoroidal hypopigmentation, and significant optic nerve cupping in the left eye with associated temporal optic nerve pit. It has generally been accepted that optic nerve pits are a congenital anomaly. However, the pathophysiological background of optic nerve pits remains unclear and controversial. This is the first clinical and photographic documentation of an optic nerve pit in a neonate and in Edwards syndrome

Intraoperative spectral-domain optical coherence tomography in coats' disease

The authors describe the spectral-domain optical coherence tomography findings in three patients undergoing examinations under anesthesia for treatment of Coats' disease. Patients were treated using a multifaceted approach of intravitreal bevacizumab and indirect diode laser vascular ablation. A handheld, portable spectral-domain optical coherence tomography system was used as a novel and critical intraoperative tool in differentiating Coats' disease from diffuse retinoblastoma and other simulating conditions and to monitor reductions in subretinal and intraretinal exudation during the course of treatment

Widefield fluorescein angiography based laser treatment in pediatric retinal disease

Purpose: To report use of widefield fluorescein angiography (FA) for targeted therapy of Coats’ disease and familial exudative vitreoretinopathy (FEVR). Study design: Retrospective, noncomparative, consecutive case series. Material and Methods: Patients diagnosed with Coats’ disease or FEVR and evaluated with widefield FA, treated with indirect laser from January 1, 2003 to December 31, 2012. Visual acuity (VA) and anatomic status of eyes was evaluated. Results: 17 eyes were treated for Coats’ disease, and 25 eyes treated for FEVR. Mean VA in the Coats’ group was 20/384 at baseline, and mean VA at the last followup was 20/258. In the FEVR group, mean VA was 20/100 at baseline, and 20/358 at last follow-up. None of the Coats’ eyes required enucleation or additional surgical intervention. Two of the eyes with FEVR required surgery due to advanced disease. Conclusion: Widefield angiographyguided laser therapy in Coats’ disease and FEVR led to visual and anatomic stability in these diseases