Axenfeld-Rieger syndrome in the pediatric population: A review.

Axenfeld-Rieger syndrome (ARS) is a rare autosomal-dominant neurocristopathy that presents with a variety of classical ocular and systemic findings. The pathophysiology of the disease involves anterior segment dysgenesis, and patients may present with ophthalmic complications early in life, including secondary glaucoma, high refractive errors, amblyopia, and permanent visual damage. There are a limited number of studies in the literature that focus primarily on pediatric patients with ARS. The purpose of this article was to review the current literature on clinical presentation, genetic associations, diagnosis, secondary complications, and treatment of ARS in pediatric patients. Evaluating the essential clinical aspects of the disease in children may allow for earlier diagnosis and treatment and prevent visual morbidity from amblyopia and secondary glaucoma that may result in permanent visual damage.

Toxoplasma Retinochoroiditis with Chorioretinal Neovascularization in a Young Patient.

We present a pediatric case to highlight the clinical appearance and management of choroidal neovascularization in the setting of active toxoplasma retinochoroiditis (TRC). A 17-year-old female presented with 2 days of blurry vision in her left eye. Retinal examination demonstrated a pigmented chorioretinal lesion with associated subretinal fluid, vessel sheathing, and adjacent intraretinal hemorrhage. She was diagnosed with active choroidal neovascularization and successful treatment with bevacizumab revealed an underlying active toxoplasmosis lesion. Choroidal neovascularization may rarely present during an acute case of TRC. Dual therapy with anti-vascular endothelial growth factor antibody and anti-parasitic agents leads to improved visual outcomes.

Role of Optical Coherence Tomography in Identifying Retinal Biomarkers in Frontotemporal Dementia: A Review.

PURPOSE OF REVIEW: Frontotemporal dementia (FTD) is often misdiagnosed or recognized late. Clinical heterogeneity and overlap with other dementias impede accurate diagnosis. FTD biomarkers are limited, expensive, and invasive. We present a narrative review of the current literature focused on optical coherence tomography (OCT) to identify retinal biomarkers of dementia, discuss OCT findings in FTD, and explore the implications of an FTD-specific ocular biomarker for research and patient care. RECENT FINDINGS: Recent studies suggest that outer retinal thinning detected via OCT may function as a novel ocular biomarker of FTD. The degree and rate of inner retinal thinning may correlate with disease severity and progression. In Alzheimer disease (AD), OCT demonstrates thinning of the inner retina, which may differentiate this condition from FTD. We conducted a comprehensive search of the literature and reviewed published OCT findings in FTD, AD, and mild cognitive impairment, as well as reports on biomarkers of FTD and AD used in the research and patient care settings. Three of the authors (O.M., N.S.K., and K.Z.Y.) independently conducted literature searches using PubMed to identify studies published before May 1, 2020, using the following search terminology: "Alzheimer's disease," "Alzheimer's dementia," "frontotemporal dementia," "FTD," "mild cognitive impairment," "dementia biomarkers," and "neurodegeneration biomarkers." Search results were then refined using one or more of the following keywords: "optical coherence tomography," "optical coherence tomography angiography," "retinal imaging," and "retinal thinning." The selection of published works for inclusion in this narrative review was then limited to full-text articles written in English based on consensus agreement of the authors. SUMMARY: FTD diagnosis is imprecise, emphasizing the need for improved state and trait biomarkers. OCT imaging of the retina holds considerable potential for establishing effective ocular biomarkers for FTD.

The Diagnostic Conundrum of Retinitis and a Pigmented Scar.

We report a finding of a pigmented chorioretinal scar with acute retinal necrosis (ARN) caused by herpes simplex virus 2 (HSV-2) infection rather than toxoplasma, creating an initial diagnostic dilemma. A 53-year-old functionally monocular male presented with painless floaters and blurry vision in his seeing eye over a period of 4 days. An exam demonstrated anterior chamber (AC) reaction, vitritis, multifocal patches of whitening, and an occlusive retinal vasculitis. A superior pigmented chorioretinal scar with overlying contracted vitreous was noted in the periphery with no adjacent retinal whitening. The patient was treated for both ARN and toxoplasma chorioretinitis until PCR study of the vitreous and AC returned positive for HSV-2 and negative for toxoplasmosis. Management consisted of a dual therapy regimen of both oral and intravitreal antiviral agents as well as oral corticosteroids. The patient's clinical course was complicated by rhegmatogenous retinal detachment within 2 weeks after symptom onset, requiring pars plana vitrectomy with silicone oil and intraoperative intraocular incubation with foscarnet. We review emerging evidence for pigmented chorioretinal scars in ARN specifically caused by HSV-2, as well as diagnostic and treatment dilemmas in the management of ARN and ARN detachments.